Skip to main content
SpringerLink
Log in
Book cover

Surgical Pathology of Non-neoplastic Gastrointestinal Diseases pp 239–263Cite as

Other Inflammatory Disorders of Duodenum

  • Chapter
  • First Online:

  • 1550 Accesses

Abstract

Chronic duodenitis and peptic duodenitis are the most common types of inflammatory disorders present in the duodenum. Lymphocytic duodenitis is a histological diagnosis associated with a heterogeneous group of gluten-mediated and non-gluten-related diseases. Inflammatory bowel diseases, both Crohn’s disease and ulcerative colitis, eosinophilic duodenitis/enteritis, graft-versus-host disease, systemic diseases such as sarcoidosis, and immunodeficiency disorders including common variable immunodeficiency, X-linked agammaglobulinemia, and severe combined immunodeficiency can also involve duodenum and small bowel.

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   89.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   119.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD   169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

References

  1. Kreuning J, Bosman FT, Kuiper G, Wal AM, Lindeman J. Gastric and duodenal mucosa in ‘healthy’ individuals. An endoscopic and histopathological study of 50 volunteers. J Clin Pathol. 1978;31(1):69–77.

    CAS  PubMed  PubMed Central  Google Scholar 

  2. Jenkins D, Goodall A, Gillet FR, Scott BB. Defining duodenitis: quantitative histological study of mucosal responses and their correlations. J Clin Pathol. 1985;38(10):1119–26.

    CAS  PubMed  PubMed Central  Google Scholar 

  3. Terada T. Pathologic observations of the duodenum in 615 consecutive duodenal specimens: I. benign lesions. Int J Clin Exp Pathol. 2012;5(1):46–51.

    PubMed  PubMed Central  Google Scholar 

  4. Alper A, Hardee S, Rojas-Velasquez D, Escalera S, Morotti RA, Pashankar DS. Prevalence and clinical, endoscopic, and pathological features of duodenitis in children. J Pediatr Gastroenterol Nutr. 2016;62(2):314–6. https://doi.org/10.1097/mpg.0000000000000942.

    Article  PubMed  PubMed Central  Google Scholar 

  5. Moghal N, Jafarey NA. A histological study of the effects of nonsteroidal anti-inflammatory drugs (NSAIDs) on the gastric and duodenal mucosa. J Pak Med Assoc. 1989;39(11):287–90.

    CAS  PubMed  Google Scholar 

  6. Taha AS. Histopathological aspects of mucosal injury related to non-steroidal anti-inflammatory drugs. Ital J Gastroenterol. 1996;28(Suppl 4):12–5.

    CAS  PubMed  Google Scholar 

  7. Wee A, Kang JY, Ho MS, Choong HL, Wu AY, Sutherland IH. Gastroduodenal mucosa in uraemia: endoscopic and histological correlation and prevalence of helicobacter-like organisms. Gut. 1990;31(10):1093–6.

    CAS  PubMed  PubMed Central  Google Scholar 

  8. Misra V, Misra SP, Shukla SK, Jaiswal PK, Agarwal R, Tondon S. Endoscopic and histological changes in upper gastrointestinal tract of patients with chronic renal failure. Indian J Pathol Microbiol. 2004;47(2):170–3.

    PubMed  Google Scholar 

  9. Zukerman GR, Mills BA, Koehler RE, Siegel A, Harter HR, DeSchryver-Kecskemeti K. Nodular duodenitis. Pathologic and clinical characteristics in patients with end-stage renal disease. Dig Dis Sci. 1983;28(11):1018–24.

    CAS  PubMed  Google Scholar 

  10. Kreuning J, vd Wal AM, Kuiper G, Lindeman J. Chronic nonspecific duodenitis. A multiple biopsy study of the duodenal bulb in health and disease. Scand J Gastroenterol Suppl. 1989;167:16–20.

    CAS  PubMed  Google Scholar 

  11. Lewis S, Stableforth W, Awasthi R, Awasthi A, Pitts N, Ottaway J, et al. An examination of the relationship between the endoscopic appearance of duodenitis and the histological findings in patients with epigastric pain. Int J Clin Exp Pathol. 2012;5(6):581–7.

    PubMed  PubMed Central  Google Scholar 

  12. Whitehead R, Roca M, Meikle DD, Skinner J, Truelove SC. The histological classification of duodenitis in fibreoptic biopsy specimens. Digestion. 1975;13(3):129–36.

    CAS  PubMed  Google Scholar 

  13. Genta RM, Kinsey RS, Singhal A, Suterwala S. Gastric foveolar metaplasia and gastric heterotopia in the duodenum: no evidence of an etiologic role for Helicobacter pylori. Hum Pathol. 2010;41(11):1593–600. https://doi.org/10.1016/j.humpath.2010.04.010.

    Article  PubMed  Google Scholar 

  14. Leonard N, Feighery CF, Hourihane DO. Peptic duodenitis—does it exist in the second part of the duodenum? J Clin Pathol. 1997;50(1):54–8.

    CAS  PubMed  PubMed Central  Google Scholar 

  15. Frierson HF Jr, Caldwell SH, Marshall BJ. Duodenal bulb biopsy findings for patients with non-ulcer dyspepsia with or without Campylobacter pylori gastritis. Mod Pathol. 1990;3(3):271–6.

    PubMed  Google Scholar 

  16. Walker MM, Dixon MF. Gastric metaplasia: its role in duodenal ulceration. Aliment Pharmacol Ther. 1996;10(Suppl 1):119–28.

    PubMed  Google Scholar 

  17. Marshall BJ, Goodwin CS, Warren JR, Murray R, Blincow ED, Blackbourn SJ, et al. Prospective double-blind trial of duodenal ulcer relapse after eradication of Campylobacter pylori. Lancet (London, England). 1988;2(8626–8627):1437–42.

    CAS  Google Scholar 

  18. Blaser MJ. Gastric Campylobacter-like organisms, gastritis, and peptic ulcer disease. Gastroenterology. 1987;93(2):371–83.

    CAS  PubMed  Google Scholar 

  19. Graham DY. Campylobacter pylori and peptic ulcer disease. Gastroenterology. 1989;96(2 Pt 2 Suppl):615–25.

    CAS  PubMed  Google Scholar 

  20. Parrish JA, Rawlins DC. Intestinal mucosa in the Zollinger-Ellison syndrome. Gut. 1965;6(3):286–9.

    CAS  PubMed  PubMed Central  Google Scholar 

  21. Wyatt JI, Rathbone BJ, Sobala GM, Shallcross T, Heatley RV, Axon AT, et al. Gastric epithelium in the duodenum: its association with Helicobacter pylori and inflammation. J Clin Pathol. 1990;43(12):981–6.

    CAS  PubMed  PubMed Central  Google Scholar 

  22. Walker MM, Crabtree JE. Helicobacter pylori infection and the pathogenesis of duodenal ulceration. Ann N Y Acad Sci. 1998;859:96–111.

    CAS  PubMed  Google Scholar 

  23. Wyatt JI, Rathbone BJ, Dixon MF, Heatley RV. Campylobacter pyloridis and acid induced gastric metaplasia in the pathogenesis of duodenitis. J Clin Pathol. 1987;40(8):841–8.

    CAS  PubMed  PubMed Central  Google Scholar 

  24. Shabib SM, Cutz E, Drumm B, Sherman PM. Association of gastric metaplasia and duodenitis with Helicobacter pylori infection in children. Am J Clin Pathol. 1994;102(2):188–91.

    CAS  PubMed  Google Scholar 

  25. Khulusi S, Badve S, Patel P, Lloyd R, Marrero JM, Finlayson C, et al. Pathogenesis of gastric metaplasia of the human duodenum: role of Helicobacter pylori, gastric acid, and ulceration. Gastroenterology. 1996;110(2):452–8.

    CAS  PubMed  Google Scholar 

  26. Wyatt JI. Histopathology of gastroduodenal inflammation: the impact of Helicobacter pylori. Histopathology. 1995;26(1):1–15.

    CAS  PubMed  Google Scholar 

  27. Hamlet A, Thoreson AC, Nilsson O, Svennerholm AM, Olbe L. Duodenal Helicobacter pylori infection differs in cagA genotype between asymptomatic subjects and patients with duodenal ulcers. Gastroenterology. 1999;116(2):259–68.

    CAS  PubMed  Google Scholar 

  28. Ellison EH, Wilson SD. The Zollinger-Ellison syndrome: re-appraisal and evaluation of 260 registered cases. Ann Surg. 1964;160:512–30.

    CAS  PubMed  PubMed Central  Google Scholar 

  29. Memeo L, Jhang J, Hibshoosh H, Green PH, Rotterdam H, Bhagat G. Duodenal intraepithelial lymphocytosis with normal villous architecture: common occurrence in H. pylori gastritis. Mod Pathol. 2005;18(8):1134–44. https://doi.org/10.1038/modpathol.3800404.

    Article  PubMed  Google Scholar 

  30. Li XB, Ge ZZ, Chen XY, Liu WZ. Duodenal gastric metaplasia and Helicobacter pylori infection in patients with diffuse nodular duodenitis. Braz J Med Biol Res. 2007;40(7):897–902.

    CAS  PubMed  Google Scholar 

  31. Noach LA, Rolf TM, Bosma NB, Schwartz MP, Oosting J, Rauws EA, et al. Gastric metaplasia and Helicobacter pylori infection. Gut. 1993;34(11):1510–4.

    CAS  PubMed  PubMed Central  Google Scholar 

  32. Brown I, Mino-Kenudson M, Deshpande V, Lauwers GY. Intraepithelial lymphocytosis in architecturally preserved proximal small intestinal mucosa: an increasing diagnostic problem with a wide differential diagnosis. Arch Pathol Lab Med. 2006;130(7):1020–5. https://doi.org/10.1043/1543–2165(2006)130[1020:iliapp]2.0.co;2.

    Article  PubMed  Google Scholar 

  33. Hammer ST, Greenson JK. The clinical significance of duodenal lymphocytosis with normal villus architecture. Arch Pathol Lab Med. 2013;137(9):1216–9. https://doi.org/10.5858/arpa.2013–0261-RA.

    Article  PubMed  Google Scholar 

  34. Vande Voort JL, Murray JA, Lahr BD, Van Dyke CT, Kroning CM, Moore SB, et al. Lymphocytic duodenosis and the spectrum of celiac disease. Am J Gastroenterol. 2009;104(1):142–8. https://doi.org/10.1038/ajg.2008.7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  35. Lauwers GY, Fasano A, Brown IS. Duodenal lymphocytosis with no or minimal enteropathy: much ado about nothing? Mod Pathol. 2015;28(Suppl 1):S22–9. https://doi.org/10.1038/modpathol.2014.135.

    Article  PubMed  Google Scholar 

  36. Ierardi E, Losurdo G, Iannone A, Piscitelli D, Amoruso A, Barone M, et al. Lymphocytic duodenitis or microscopic enteritis and gluten-related conditions: what needs to be explored? Ann Gastroenterol. 2017;30(4):380–92. https://doi.org/10.20524/aog.2017.0165.

    Article  PubMed  PubMed Central  Google Scholar 

  37. Rostami K, Aldulaimi D, Holmes G, Johnson MW, Robert M, Srivastava A, et al. Microscopic enteritis: Bucharest consensus. World J Gastroenterol. 2015;21(9):2593–604. https://doi.org/10.3748/wjg.v21.i9.2593.

    Article  PubMed  PubMed Central  Google Scholar 

  38. Mahadeva S, Wyatt JI, Howdle PD. Is a raised intraepithelial lymphocyte count with normal duodenal villous architecture clinically relevant? J Clin Pathol. 2002;55(6):424–8.

    CAS  PubMed  PubMed Central  Google Scholar 

  39. Kakar S, Nehra V, Murray JA, Dayharsh GA, Burgart LJ. Significance of intraepithelial lymphocytosis in small bowel biopsy samples with normal mucosal architecture. Am J Gastroenterol. 2003;98(9):2027–33. https://doi.org/10.1111/j.1572–0241.2003.07631.x.

    Article  PubMed  Google Scholar 

  40. Shmidt E, Smyrk TC, Faubion WA, Oxentenko AS. Duodenal intraepithelial lymphocytosis with normal villous architecture in pediatric patients: Mayo Clinic experience, 2000–2009. J Pediatr Gastroenterol Nutr. 2013;56(1):51–5. https://doi.org/10.1097/MPG.0b013e318267c353.

    Article  PubMed  Google Scholar 

  41. Shmidt E, Smyrk TC, Boswell CL, Enders FT, Oxentenko AS. Increasing duodenal intraepithelial lymphocytosis found at upper endoscopy: time trends and associations. Gastrointest Endosc. 2014;80(1):105–11. https://doi.org/10.1016/j.gie.2014.01.008.

    Article  PubMed  Google Scholar 

  42. Galli G, Purchiaroni F, Lahner E, Sacchi MC, Pilozzi E, Corleto VD, et al. Time trend occurrence of duodenal intraepithelial lymphocytosis and celiac disease in an open access endoscopic population. United European Gastroenterol J. 2017;5(6):811–8. https://doi.org/10.1177/2050640616680971.

    Article  PubMed  Google Scholar 

  43. Sergi C, Shen F, Bouma G. Intraepithelial lymphocytes, scores, mimickers and challenges in diagnosing gluten-sensitive enteropathy (celiac disease). World J Gastroenterol. 2017;23(4):573–89. https://doi.org/10.3748/wjg.v23.i4.573.

    Article  PubMed  PubMed Central  Google Scholar 

  44. Losurdo G, Piscitelli D, Giangaspero A, Principi M, Buffelli F, Giorgio F, et al. Evolution of nonspecific duodenal lymphocytosis over 2 years of follow-up. World J Gastroenterol. 2015;21(24):7545–52. https://doi.org/10.3748/wjg.v21.i24.7545.

    Article  PubMed  PubMed Central  Google Scholar 

  45. Goldstein NS, Underhill J. Morphologic features suggestive of gluten sensitivity in architecturally normal duodenal biopsy specimens. Am J Clin Pathol. 2001;116(1):63–71. https://doi.org/10.1309/5prj-cm0u-6kld-6kcm.

    Article  CAS  PubMed  Google Scholar 

  46. Patterson ER, Shmidt E, Oxentenko AS, Enders FT, Smyrk TC. Normal villous architecture with increased intraepithelial lymphocytes: a duodenal manifestation of Crohn disease. Am J Clin Pathol. 2015;143(3):445–50. https://doi.org/10.1309/ajcpbkqnd4shvx9q.

    Article  PubMed  Google Scholar 

  47. Fasano A, Sapone A, Zevallos V, Schuppan D. Nonceliac gluten sensitivity. Gastroenterology. 2015;148(6):1195–204. https://doi.org/10.1053/j.gastro.2014.12.049.

    Article  CAS  PubMed  Google Scholar 

  48. Volta U, Caio G, Karunaratne TB, Alaedini A, De Giorgio R. Non-coeliac gluten/wheat sensitivity: advances in knowledge and relevant questions. Expert Rev Gastroenterol Hepatol. 2017;11(1):9–18. https://doi.org/10.1080/17474124.2017.1260003.

    Article  CAS  PubMed  Google Scholar 

  49. Aziz I, Lewis NR, Hadjivassiliou M, Winfield SN, Rugg N, Kelsall A, et al. A UK study assessing the population prevalence of self-reported gluten sensitivity and referral characteristics to secondary care. Eur J Gastroenterol Hepatol. 2014;26(1):33–9. https://doi.org/10.1097/01.meg.0000435546.87251.f7.

    Article  PubMed  Google Scholar 

  50. Wise L, Kyriakos M, McCown A, Ballinger WF. Crohn’s disease of the duodenum. A report and analysis of eleven new cases. Am J Surg. 1971;121(2):184–94.

    CAS  PubMed  Google Scholar 

  51. Nugent FW, Roy MA. Duodenal Crohn’s disease: an analysis of 89 cases. Am J Gastroenterol. 1989;84(3):249–54.

    CAS  PubMed  Google Scholar 

  52. Ingle SB, Adgaonkar BD, Jamadar NP, Siddiqui S, Hinge CR. Crohn’s disease with gastroduodenal involvement: diagnostic approach. World J Clin Cases. 2015;3(6):479–83. https://doi.org/10.12998/wjcc.v3.i6.479.

    Article  PubMed  PubMed Central  Google Scholar 

  53. Sonnenberg A, Melton SD, Genta RM. Frequent occurrence of gastritis and duodenitis in patients with inflammatory bowel disease. Inflamm Bowel Dis. 2011;17(1):39–44. https://doi.org/10.1002/ibd.21356.

    Article  PubMed  Google Scholar 

  54. Diaz L, Hernandez-Oquet RE, Deshpande AR, Moshiree B. Upper gastrointestinal involvement in Crohn disease: histopathologic and endoscopic findings. South Med J. 2015;108(11):695–700. https://doi.org/10.14423/smj.0000000000000373.

    Article  PubMed  Google Scholar 

  55. Ruuska T, Vaajalahti P, Arajarvi P, Maki M. Prospective evaluation of upper gastrointestinal mucosal lesions in children with ulcerative colitis and Crohn’s disease. J Pediatr Gastroenterol Nutr. 1994;19(2):181–6.

    CAS  PubMed  Google Scholar 

  56. Tobin JM, Sinha B, Ramani P, Saleh AR, Murphy MS. Upper gastrointestinal mucosal disease in pediatric Crohn disease and ulcerative colitis: a blinded, controlled study. J Pediatr Gastroenterol Nutr. 2001;32(4):443–8.

    CAS  PubMed  Google Scholar 

  57. Hummel TZ, ten Kate FJ, Reitsma JB, Benninga MA, Kindermann A. Additional value of upper GI tract endoscopy in the diagnostic assessment of childhood IBD. J Pediatr Gastroenterol Nutr. 2012;54(6):753–7. https://doi.org/10.1097/MPG.0b013e318243e3e3.

    Article  PubMed  Google Scholar 

  58. Sullivan KJ, Wei M, Chernetsova E, Hallani S, de Nanassy J, Benchimol EI, et al. Value of upper endoscopic biopsies in predicting medical refractoriness in pediatric patients with ulcerative colitis. Hum Pathol. 2017;66:167–76. https://doi.org/10.1016/j.humpath.2017.06.006.

    Article  PubMed  Google Scholar 

  59. Nugent FW, Richmond M, Park SK. Crohn’s disease of the duodenum. Gut. 1977;18(2):115–20.

    CAS  PubMed  PubMed Central  Google Scholar 

  60. Song DJ, Whang IS, Choi HW, Jeong CY, Jung SH. Crohn’s disease confined to the duodenum: a case report. World J Clin Cases. 2016;4(6):146–50. https://doi.org/10.12998/wjcc.v4.i6.146.

    Article  PubMed  PubMed Central  Google Scholar 

  61. Yamamoto T, Bain IM, Connolly AB, Keighley MR. Gastroduodenal fistulas in Crohn’s disease: clinical features and management. Dis Colon Rectum. 1998;41(10):1287–92.

    CAS  PubMed  Google Scholar 

  62. Uchino M, Ikeuchi H, Matsuoka H, Matsumoto T, Takesue Y, Tomita N. Clinical features and management of duodenal fistula in patients with Crohn’s disease. Hepatogastroenterology. 2012;59(113):171–4. https://doi.org/10.5754/hge10205.

    Article  PubMed  Google Scholar 

  63. Honma J, Mitomi H, Murakami K, Igarashi M, Saigenji K, Toyama K. Nodular duodenitis involving CD8+ cell infiltration in patients with ulcerative colitis. Hepatogastroenterology. 2001;48(42):1604–10.

    CAS  PubMed  Google Scholar 

  64. Cameron DJ. Upper and lower gastrointestinal endoscopy in children and adolescents with Crohn’s disease: a prospective study. J Gastroenterol Hepatol. 1991;6(4):355–8.

    CAS  PubMed  Google Scholar 

  65. Laube R, Liu K, Schifter M, Yang JL, Suen MK, Leong RW. Oral and upper gastrointestinal Crohn’s disease. J Gastroenterol Hepatol. 2018;33(2):355–64. https://doi.org/10.1111/jgh.13866.

    Article  PubMed  Google Scholar 

  66. Hardee S, Alper A, Pashankar DS, Morotti RA. Histopathology of duodenal mucosal lesions in pediatric patients with inflammatory bowel disease: statistical analysis to identify distinctive features. Pediatr Dev Pathol. 2014;17(6):450–4. https://doi.org/10.2350/14–07–1529-oa.1.

    Article  PubMed  Google Scholar 

  67. Brown IS, Miller GC, Bettington ML, Rosty C. Histopathological findings of extra-ileal manifestations at initial diagnosis of Crohn’s disease-related ileitis. Virchows Arch. 2016;469(5):515–22. https://doi.org/10.1007/s00428–016–2009–7.

    Article  CAS  PubMed  Google Scholar 

  68. Sakuraba A, Iwao Y, Matsuoka K, Naganuma M, Ogata H, Kanai T, et al. Endoscopic and pathologic changes of the upper gastrointestinal tract in Crohn’s disease. Biomed Res Int. 2014;2014:610767. https://doi.org/10.1155/2014/610767.

    Article  PubMed  PubMed Central  Google Scholar 

  69. Wright CL, Riddell RH. Histology of the stomach and duodenum in Crohn’s disease. Am J Surg Pathol. 1998;22(4):383–90.

    CAS  PubMed  Google Scholar 

  70. Lin J, McKenna BJ, Appelman HD. Morphologic findings in upper gastrointestinal biopsies of patients with ulcerative colitis: a controlled study. Am J Surg Pathol. 2010;34(11):1672–7. https://doi.org/10.1097/PAS.0b013e3181f3de93.

    Article  PubMed  Google Scholar 

  71. Rubenstein J, Sherif A, Appelman H, Chey WD. Ulcerative colitis associated enteritis: is ulcerative colitis always confined to the colon? J Clin Gastroenterol. 2004;38(1):46–51.

    PubMed  Google Scholar 

  72. Corporaal S, Karrenbeld A, van der Linde K, Voskuil JH, Kleibeuker JH, Dijkstra G. Diffuse enteritis after colectomy for ulcerative colitis: two case reports and review of the literature. Eur J Gastroenterol Hepatol. 2009;21(6):710–5. https://doi.org/10.1097/MEG.0b013e32831bc400.

    Article  PubMed  Google Scholar 

  73. Annese V, Caruso N, Bisceglia M, Lombardi G, Clemente R, Modola G, et al. Fatal ulcerative panenteritis following colectomy in a patient with ulcerative colitis. Dig Dis Sci. 1999;44(6):1189–95.

    CAS  PubMed  Google Scholar 

  74. Queliza K, Ihekweazu FD, Schady D, Jensen C, Kellermayer R. Granulomatous upper gastrointestinal inflammation in pediatric ulcerative colitis. J Pediatr Gastroenterol Nutr. 2017. https://doi.org/10.1097/mpg.0000000000001771.

    PubMed  PubMed Central  Google Scholar 

  75. Tsujino T, Ito Y, Yoshida H, Ikushima S, Takemura T, Nakata R, et al. Duodenal mass in a patient with weight loss and liver dysfunction. Duodenal and liver sarcoidosis. Gut. 2011;60(12):1659–60, 77. https://doi.org/10.1136/gut.2010.212365.

    Article  PubMed  Google Scholar 

  76. Ghrenassia E, Mekinian A, Chapelon-Albric C, Levy P, Cosnes J, Seve P, et al. Digestive-tract sarcoidosis: French nationwide case-control study of 25 cases. Medicine. 2016;95(29):e4279. https://doi.org/10.1097/md.0000000000004279.

    Article  PubMed  PubMed Central  Google Scholar 

  77. Baughman RP, Lower EE, du Bois RM. Sarcoidosis. Lancet (London, England). 2003;361(9363):1111–8. https://doi.org/10.1016/s0140–6736(03)12888–7.

    Article  CAS  Google Scholar 

  78. Valeyre D, Prasse A, Nunes H, Uzunhan Y, Brillet PY, Muller-Quernheim J. Sarcoidosis. Lancet (London, England). 2014;383(9923):1155–67. https://doi.org/10.1016/s0140–6736(13)60680–7.

    Article  Google Scholar 

  79. Hillerdal G, Nou E, Osterman K, Schmekel B. Sarcoidosis: epidemiology and prognosis. A 15-year European study. Am Rev Respir Dis. 1984;130(1):29–32. https://doi.org/10.1164/arrd.1984.130.1.29.

    Article  CAS  PubMed  Google Scholar 

  80. Nunes H, Bouvry D, Soler P, Valeyre D. Sarcoidosis. Orphanet J Rare Dis. 2007;2:46. https://doi.org/10.1186/1750–1172–2-46.

    Article  PubMed  PubMed Central  Google Scholar 

  81. Morimoto T, Azuma A, Abe S, Usuki J, Kudoh S, Sugisaki K, et al. Epidemiology of sarcoidosis in Japan. Eur Respir J. 2008;31(2):372–9. https://doi.org/10.1183/09031936.00075307.

    Article  CAS  PubMed  Google Scholar 

  82. Farman J, Ramirez G, Rybak B, Lebwohl O, Semrad C, Rotterdam H. Gastric sarcoidosis. Abdom Imaging. 1997;22(3):248–52.

    CAS  PubMed  Google Scholar 

  83. Vahid B, Spodik M, Braun KN, Ghazi LJ, Esmaili A. Sarcoidosis of gastrointestinal tract: a rare disease. Dig Dis Sci. 2007;52(12):3316–20. https://doi.org/10.1007/s10620–006–9448-y.

    Article  PubMed  Google Scholar 

  84. Sprague R, Harper P, McClain S, Trainer T, Beeken W. Disseminated gastrointestinal sarcoidosis. Case report and review of the literature. Gastroenterology. 1984;87(2):421–5.

    CAS  PubMed  Google Scholar 

  85. Bulger K, O’Riordan M, Purdy S, O’Brien M, Lennon J. Gastrointestinal sarcoidosis resembling Crohn’s disease. Am J Gastroenterol. 1988;83(12):1415–7.

    CAS  PubMed  Google Scholar 

  86. Rauf A, Davis P, Levendoglu H. Sarcoidosis of the small intestine. Am J Gastroenterol. 1988;83(2):187–9.

    CAS  PubMed  Google Scholar 

  87. Lindgren A, Engstrom CP, Nilsson O, Abrahamsson H. Protein-losing enteropathy in an unusual form of sarcoidosis. Eur J Gastroenterol Hepatol. 1995;7(10):1005–7.

    CAS  PubMed  Google Scholar 

  88. Popovic OS, Brkic S, Bojic P, Kenic V, Jojic N, Djuric V, et al. Sarcoidosis and protein losing enteropathy. Gastroenterology. 1980;78(1):119–25.

    CAS  PubMed  Google Scholar 

  89. MacRury SM, McQuaker G, Morton R, Hume R. Sarcoidosis: association with small bowel disease and folate deficiency. J Clin Pathol. 1992;45(9):823–5.

    CAS  PubMed  PubMed Central  Google Scholar 

  90. Stampfl DA, Grimm IS, Barbot DJ, Rosato FE, Gordon SJ. Sarcoidosis causing duodenal obstruction. Case report and review of gastrointestinal manifestations. Dig Dis Sci. 1990;35(4):526–32.

    CAS  PubMed  Google Scholar 

  91. Noel JM, Katona IM, Pineiro-Carrero VM. Sarcoidosis resulting in duodenal obstruction in an adolescent. J Pediatr Gastroenterol Nutr. 1997;24(5):594–8.

    CAS  PubMed  Google Scholar 

  92. Esmadi M, Ahmad DS, Odum B, Diaz-Arias A, Hammad H. Sarcoidosis: an extremely rare cause of granulomatous enterocolitis. J Gastrointestin Liver Dis. 2012;21(4):423–5.

    PubMed  Google Scholar 

  93. Kambham N, Higgins JP, Sundram U, Troxell ML. Hematopoietic stem cell transplantation: graft versus host disease and pathology of gastrointestinal tract, liver, and lung. Adv Anat Pathol. 2014;21(5):301–20. https://doi.org/10.1097/pap.0000000000000032.

    Article  PubMed  Google Scholar 

  94. Holmberg L, Kikuchi K, Gooley TA, Adams KM, Hockenbery DM, Flowers ME, et al. Gastrointestinal graft-versus-host disease in recipients of autologous hematopoietic stem cells: incidence, risk factors, and outcome. Biol Blood Marrow Transplant. 2006;12(2):226–34. https://doi.org/10.1016/j.bbmt.2005.10.011.

    Article  PubMed  Google Scholar 

  95. Zhang Y, Ruiz P. Solid organ transplant-associated acute graft-versus-host disease. Arch Pathol Lab Med. 2010;134(8):1220–4. https://doi.org/10.1043/2008–0679-rs.1.

    Article  PubMed  Google Scholar 

  96. Jagasia MH, Greinix HT, Arora M, Williams KM, Wolff D, Cowen EW, et al. National Institutes of Health consensus development project on criteria for clinical trials in chronic graft-versus-host disease: I. The 2014 diagnosis and staging working group report. Biol Blood Marrow Transplant. 2015;21(3):389–401.e1. https://doi.org/10.1016/j.bbmt.2014.12.001.

    Article  PubMed  Google Scholar 

  97. Ferrara JL, Levine JE, Reddy P, Holler E. Graft-versus-host disease. Lancet (London, England). 2009;373(9674):1550–61. https://doi.org/10.1016/s0140–6736(09)60237–3.

    Article  CAS  Google Scholar 

  98. Ross WA, Couriel D. Colonic graft-versus-host disease. Curr Opin Gastroenterol. 2005;21(1):64–9.

    PubMed  Google Scholar 

  99. Przepiorka D, Smith TL, Folloder J, Khouri I, Ueno NT, Mehra R, et al. Risk factors for acute graft-versus-host disease after allogeneic blood stem cell transplantation. Blood. 1999;94(4):1465–70.

    CAS  PubMed  Google Scholar 

  100. Aslanian H, Chander B, Robert M, Cooper D, Proctor D, Seropian S, et al. Prospective evaluation of acute graft-versus-host disease. Dig Dis Sci. 2012;57(3):720–5. https://doi.org/10.1007/s10620–011–1938-x.

    Article  PubMed  Google Scholar 

  101. Ross WA, Ghosh S, Dekovich AA, Liu S, Ayers GD, Cleary KR, et al. Endoscopic biopsy diagnosis of acute gastrointestinal graft-versus-host disease: rectosigmoid biopsies are more sensitive than upper gastrointestinal biopsies. Am J Gastroenterol. 2008;103(4):982–9. https://doi.org/10.1111/j.1572–0241.2007.01639.x.

    Article  PubMed  Google Scholar 

  102. Washington K, Jagasia M. Pathology of graft-versus-host disease in the gastrointestinal tract. Hum Pathol. 2009;40(7):909–17. https://doi.org/10.1016/j.humpath.2009.04.001.

    Article  PubMed  Google Scholar 

  103. Cogbill CH, Drobyski WR, Komorowski RA. Gastrointestinal pathology of autologous graft-versus-host disease following hematopoietic stem cell transplantation: a clinicopathological study of 17 cases. Mod Pathol. 2011;24(1):117–25. https://doi.org/10.1038/modpathol.2010.163.

    Article  PubMed  Google Scholar 

  104. Wu G, Selvaggi G, Nishida S, Moon J, Island E, Ruiz P, et al. Graft-versus-host disease after intestinal and multivisceral transplantation. Transplantation. 2011;91(2):219–24. https://doi.org/10.1097/TP.0b013e3181ff86ec.

    Article  PubMed  Google Scholar 

  105. Choi SW, Levine JE, Ferrara JL. Pathogenesis and management of graft-versus-host disease. Immunol Allergy Clin North Am. 2010;30(1):75–101. https://doi.org/10.1016/j.iac.2009.10.001.

    Article  PubMed  PubMed Central  Google Scholar 

  106. Gomez AJ, Arai S, Higgins JP, Kambham N. Clinicopathologic threshold of acute colorectal graft-versus-host disease. Arch Pathol Lab Med. 2016;140(6):570–7. https://doi.org/10.5858/arpa.2015–0187-OA.

    Article  PubMed  Google Scholar 

  107. Assi MA, Pulido JS, Peters SG, McCannel CA, Razonable RR. Graft-vs.-host disease in lung and other solid organ transplant recipients. Clin Transplant. 2007;21(1):1–6. https://doi.org/10.1111/j.1399–0012.2006.00573.x.

    Article  PubMed  Google Scholar 

  108. Ljungman P, Hakki M, Boeckh M. Cytomegalovirus in hematopoietic stem cell transplant recipients. Hematol Oncol Clin North Am. 2011;25(1):151–69. https://doi.org/10.1016/j.hoc.2010.11.011.

    Article  PubMed  PubMed Central  Google Scholar 

  109. Park SH, Choi SM, Lee DG, Choi JH, Yoo JH, Kim SH, et al. Infectious complications associated with alemtuzumab use for allogeneic hematopoietic stem cell transplantation: comparison with anti-thymocyte globulin. Transpl Infect Dis. 2009;11(5):413–23. https://doi.org/10.1111/j.1399–3062.2009.00414.x.

    Article  CAS  PubMed  Google Scholar 

  110. Cho BS, Yahng SA, Kim JH, Yoon JH, Shin SH, Lee SE, et al. Impact of cytomegalovirus gastrointestinal disease on the clinical outcomes in patients with gastrointestinal graft-versus-host disease in the era of preemptive therapy. Ann Hematol. 2013;92(4):497–504. https://doi.org/10.1007/s00277–012–1632-x.

    Article  CAS  PubMed  Google Scholar 

  111. Bhutani D, Dyson G, Manasa R, Deol A, Ratanatharathorn V, Ayash L, et al. Incidence, risk factors, and outcome of cytomegalovirus viremia and gastroenteritis in patients with gastrointestinal graft-versus-host disease. Biol Blood Marrow Transplant. 2015;21(1):159–64. https://doi.org/10.1016/j.bbmt.2014.10.004.

    Article  PubMed  Google Scholar 

  112. Flomenberg P, Babbitt J, Drobyski WR, Ash RC, Carrigan DR, Sedmak GV, et al. Increasing incidence of adenovirus disease in bone marrow transplant recipients. J Infect Dis. 1994;169(4):775–81.

    CAS  PubMed  Google Scholar 

  113. Runde V, Ross S, Trenschel R, Lagemann E, Basu O, Renzing-Kohler K, et al. Adenoviral infection after allogeneic stem cell transplantation (SCT): report on 130 patients from a single SCT unit involved in a prospective multi center surveillance study. Bone Marrow Transplant. 2001;28(1):51–7. https://doi.org/10.1038/sj.bmt.1703083.

    Article  CAS  PubMed  Google Scholar 

  114. Suparno C, Milligan DW, Moss PA, Mautner V. Adenovirus infections in stem cell transplant recipients: recent developments in understanding of pathogenesis, diagnosis and management. Leuk Lymphoma. 2004;45(5):873–85. https://doi.org/10.1080/10428190310001628176.

    Article  CAS  PubMed  Google Scholar 

  115. Feuchtinger T, Lang P, Handgretinger R. Adenovirus infection after allogeneic stem cell transplantation. Leuk Lymphoma. 2007;48(2):244–55. https://doi.org/10.1080/10428190600881157.

    Article  CAS  PubMed  Google Scholar 

  116. Kampmann B, Cubitt D, Walls T, Naik P, Depala M, Samarasinghe S, et al. Improved outcome for children with disseminated adenoviral infection following allogeneic stem cell transplantation. Br J Haematol. 2005;130(4):595–603. https://doi.org/10.1111/j.1365–2141.2005.05649.x.

    Article  CAS  PubMed  Google Scholar 

  117. Yilmaz M, Chemaly RF, Han XY, Thall PF, Fox PS, Tarrand JJ, et al. Adenoviral infections in adult allogeneic hematopoietic SCT recipients: a single center experience. Bone Marrow Transplant. 2013;48(9):1218–23. https://doi.org/10.1038/bmt.2013.33.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  118. Shulman HM, Cardona DM, Greenson JK, Hingorani S, Horn T, Huber E, et al. NIH Consensus development project on criteria for clinical trials in chronic graft-versus-host disease: II. The 2014 pathology working group report. Biol Blood Marrow Transplant. 2015;21(4):589–603. https://doi.org/10.1016/j.bbmt.2014.12.031.

    Article  PubMed  PubMed Central  Google Scholar 

  119. Nomura K, Iizuka T, Kaji D, Yamamoto H, Kuribayashi Y, Kimura R, et al. Clinicopathological features of patients with acute graft-versus-host disease of the upper digestive tract. J Gastroenterol Hepatol. 2014;29(11):1867–72. https://doi.org/10.1111/jgh.12651.

    Article  PubMed  Google Scholar 

  120. Ma C, Maluf HM, Liu TC. Acute graft-versus-host disease is more prevalent and severe in the lower than the upper gastrointestinal tract. Hum Pathol. 2015;46(10):1480–7. https://doi.org/10.1016/j.humpath.2015.06.005.

    Article  PubMed  Google Scholar 

  121. Thompson B, Salzman D, Steinhauer J, Lazenby AJ, Wilcox CM. Prospective endoscopic evaluation for gastrointestinal graft-versus-host disease: determination of the best diagnostic approach. Bone Marrow Transplant. 2006;38(5):371–6. https://doi.org/10.1038/sj.bmt.1705453.

    Article  CAS  PubMed  Google Scholar 

  122. Snover DC. Graft-versus-host disease of the gastrointestinal tract. Am J Surg Pathol. 1990;14(Suppl 1):101–8.

    PubMed  Google Scholar 

  123. Sale GE, Shulman HM, McDonald GB, Thomas ED. Gastrointestinal graft-versus-host disease in man. A clinicopathologic study of the rectal biopsy. Am J Surg Pathol. 1979;3(4):291–9.

    CAS  PubMed  Google Scholar 

  124. Lin J, Fan R, Zhao Z, Cummings OW, Chen S. Is the presence of 6 or fewer crypt apoptotic bodies sufficient for diagnosis of graft versus host disease? A decade of experience at a single institution. Am J Surg Pathol. 2013;37(4):539–47. https://doi.org/10.1097/PAS.0b013e318272c62a.

    Article  PubMed  Google Scholar 

  125. Shulman HM, Kleiner D, Lee SJ, Morton T, Pavletic SZ, Farmer E, et al. Histopathologic diagnosis of chronic graft-versus-host disease: National Institutes of Health consensus development project on criteria for clinical trials in chronic graft-versus-host disease: II. Pathology working group report. Biol Blood Marrow Transplant. 2006;12(1):31–47. https://doi.org/10.1016/j.bbmt.2005.10.023.

    Article  PubMed  Google Scholar 

  126. Nguyen CV, Kastenberg DM, Choudhary C, Katz LC, DiMarino A, Palazzo JP. Is single-cell apoptosis sufficient for the diagnosis of graft-versus-host disease in the colon? Dig Dis Sci. 2008;53(3):747–56. https://doi.org/10.1007/s10620–007–9904–3.

    Article  PubMed  Google Scholar 

  127. Lerner KG, Kao GF, Storb R, Buckner CD, Clift RA, Thomas ED. Histopathology of graft-vs.-host reaction (GvHR) in human recipients of marrow from HL-A-matched sibling donors. Transplant Proc. 1974;6(4):367–71.

    CAS  PubMed  Google Scholar 

  128. Wong NA. Gastrointestinal pathology in transplant patients. Histopathology. 2015;66(4):467–79. https://doi.org/10.1111/his.12542.

    Article  PubMed  Google Scholar 

  129. Akpek G, Chinratanalab W, Lee LA, Torbenson M, Hallick JP, Anders V, et al. Gastrointestinal involvement in chronic graft-versus-host disease: a clinicopathologic study. Biol Blood Marrow Transplant. 2003;9(1):46–51. https://doi.org/10.1053/bbmt.2003.49999.

    Article  PubMed  Google Scholar 

  130. Welch DC, Wirth PS, Goldenring JR, Ness E, Jagasia M, Washington K. Gastric graft-versus-host disease revisited: does proton pump inhibitor therapy affect endoscopic gastric biopsy interpretation? Am J Surg Pathol. 2006;30(4):444–9.

    PubMed  Google Scholar 

  131. Weidner AS, Panarelli NC, Rennert H, Jessurun J, Yantiss RK. Immunohistochemistry improves the detection of adenovirus in gastrointestinal biopsy specimens from hematopoietic stem cell transplant recipients. Am J Clin Pathol. 2016;146(5):627–31. https://doi.org/10.1093/ajcp/aqw179.

    Article  CAS  PubMed  Google Scholar 

  132. Lin J, Chen S, Zhao Z, Cummings OW, Fan R. CD123 is a useful immunohistochemical marker to facilitate diagnosis of acute graft-versus-host disease in colon. Hum Pathol. 2013;44(10):2075–80. https://doi.org/10.1016/j.humpath.2013.02.023.

    Article  CAS  PubMed  Google Scholar 

  133. Parfitt JR, Jayakumar S, Driman DK. Mycophenolate mofetil-related gastrointestinal mucosal injury: variable injury patterns, including graft-versus-host disease-like changes. Am J Surg Pathol. 2008;32(9):1367–72.

    PubMed  Google Scholar 

  134. Nguyen T, Park JY, Scudiere JR, Montgomery E. Mycophenolic acid (cellcept and myofortic) induced injury of the upper GI tract. Am J Surg Pathol. 2009;33(9):1355–63. https://doi.org/10.1097/PAS.0b013e3181a755bd.

    Article  PubMed  Google Scholar 

  135. Star KV, Ho VT, Wang HH, Odze RD. Histologic features in colon biopsies can discriminate mycophenolate from GVHD-induced colitis. Am J Surg Pathol. 2013;37(9):1319–28. https://doi.org/10.1097/PAS.0b013e31829ab1ef.

    Article  PubMed  Google Scholar 

  136. Shin CR, Nathan J, Alonso M, Yazigi N, Kocoshis S, Tiao G, et al. Incidence of acute and chronic graft-versus-host disease and donor T-cell chimerism after small bowel or combined organ transplantation. J Pediatr Surg. 2011;46(9):1732–8. https://doi.org/10.1016/j.jpedsurg.2011.04.016.

    Article  PubMed  Google Scholar 

  137. Talley NJ, Shorter RG, Phillips SF, Zinsmeister AR. Eosinophilic gastroenteritis: a clinicopathological study of patients with disease of the mucosa, muscle layer, and subserosal tissues. Gut. 1990;31(1):54–8.

    CAS  PubMed  PubMed Central  Google Scholar 

  138. Ingle SB, Hinge Ingle CR. Eosinophilic gastroenteritis: an unusual type of gastroenteritis. World J Gastroenterol. 2013;19(31):5061–6. https://doi.org/10.3748/wjg.v19.i31.5061.

    Article  PubMed  PubMed Central  Google Scholar 

  139. Reed C, Woosley JT, Dellon ES. Clinical characteristics, treatment outcomes, and resource utilization in children and adults with eosinophilic gastroenteritis. Dig Liver Dis. 2015;47(3):197–201. https://doi.org/10.1016/j.dld.2014.11.009.

    Article  PubMed  Google Scholar 

  140. Zhang M, Li Y. Eosinophilic gastroenteritis: a state-of-the-art review. J Gastroenterol Hepatol. 2017;32(1):64–72. https://doi.org/10.1111/jgh.13463.

    Article  PubMed  Google Scholar 

  141. Mansoor E, Saleh MA, Cooper GS. Prevalence of eosinophilic gastroenteritis and colitis in a population-based study, from 2012 to 2017. Clin Gastroenterol Hepatol. 2017;15(11):1733–41. https://doi.org/10.1016/j.cgh.2017.05.050.

    Article  PubMed  Google Scholar 

  142. Jensen ET, Martin CF, Kappelman MD, Dellon ES. Prevalence of eosinophilic gastritis, gastroenteritis, and colitis: estimates from a national administrative database. J Pediatr Gastroenterol Nutr. 2016;62(1):36–42. https://doi.org/10.1097/mpg.0000000000000865.

    Article  PubMed  PubMed Central  Google Scholar 

  143. Yan BM, Shaffer EA. Primary eosinophilic disorders of the gastrointestinal tract. Gut. 2009;58(5):721–32. https://doi.org/10.1136/gut.2008.165894.

    Article  CAS  PubMed  Google Scholar 

  144. Pineton de Chambrun G, Gonzalez F, Canva JY, Gonzalez S, Houssin L, Desreumaux P, et al. Natural history of eosinophilic gastroenteritis. Clin Gastroenterol Hepatol. 2011;9(11):950–6.e1. https://doi.org/10.1016/j.cgh.2011.07.017.

    Article  PubMed  Google Scholar 

  145. Zhang L, Duan L, Ding S, Lu J, Jin Z, Cui R, et al. Eosinophilic gastroenteritis: clinical manifestations and morphological characteristics, a retrospective study of 42 patients. Scand J Gastroenterol. 2011;46(9):1074–80. https://doi.org/10.3109/00365521.2011.579998.

    Article  PubMed  Google Scholar 

  146. Klein NC, Hargrove RL, Sleisenger MH, Jeffries GH. Eosinophilic gastroenteritis. Medicine. 1970;49(4):299–319.

    CAS  PubMed  Google Scholar 

  147. Prussin C. Eosinophilic gastroenteritis and related eosinophilic disorders. Gastroenterol Clin North Am. 2014;43(2):317–27. https://doi.org/10.1016/j.gtc.2014.02.013.

    Article  PubMed  PubMed Central  Google Scholar 

  148. Conner JR, Kirsch R. The pathology and causes of tissue eosinophilia in the gastrointestinal tract. Histopathology. 2017;71(2):177–99. https://doi.org/10.1111/his.13228.

    Article  PubMed  Google Scholar 

  149. McCarthy AJ, Sheahan K. Classification of eosinophilic disorders of the small and large intestine. Virchows Arch. 2017. https://doi.org/10.1007/s00428–017–2249–1.

  150. Alhmoud T, Hanson JA, Parasher G. Eosinophilic gastroenteritis: an underdiagnosed condition. Dig Dis Sci. 2016;61(9):2585–92. https://doi.org/10.1007/s10620–016–4203–5.

    Article  CAS  PubMed  Google Scholar 

  151. Yantiss RK. Eosinophils in the GI tract: how many is too many and what do they mean? Mod Pathol. 2015;28(Suppl 1):S7–21. https://doi.org/10.1038/modpathol.2014.132.

    Article  PubMed  Google Scholar 

  152. Hurrell JM, Genta RM, Melton SD. Histopathologic diagnosis of eosinophilic conditions in the gastrointestinal tract. Adv Anat Pathol. 2011;18(5):335–48. https://doi.org/10.1097/PAP.0b013e318229bfe2.

    Article  CAS  PubMed  Google Scholar 

  153. Gathmann B, Grimbacher B, Beaute J, Dudoit Y, Mahlaoui N, Fischer A, et al. The European internet-based patient and research database for primary immunodeficiencies: results 2006–2008. Clin Exp Immunol. 2009;157(Suppl 1):3–11. https://doi.org/10.1111/j.1365–2249.2009.03954.x.

    Article  PubMed  PubMed Central  Google Scholar 

  154. Bonilla FA, Barlan I, Chapel H, Costa-Carvalho BT, Cunningham-Rundles C, de la Morena MT, et al. International Consensus Document (ICON): common variable immunodeficiency disorders. J Allergy Clin Immunol Pract. 2016;4(1):38–59. https://doi.org/10.1016/j.jaip.2015.07.025.

    Article  PubMed  Google Scholar 

  155. Hammarstrom L, Vorechovsky I, Webster D. Selective IgA deficiency (SIgAD) and common variable immunodeficiency (CVID). Clin Exp Immunol. 2000;120(2):225–31.

    CAS  PubMed  PubMed Central  Google Scholar 

  156. Bogaert DJ, Dullaers M, Lambrecht BN, Vermaelen KY, De Baere E, Haerynck F. Genes associated with common variable immunodeficiency: one diagnosis to rule them all? J Med Genet. 2016;53(9):575–90. https://doi.org/10.1136/jmedgenet-2015–103690.

    Article  CAS  PubMed  Google Scholar 

  157. Kienzler AK, Hargreaves CE, Patel SY. The role of genomics in common variable immunodeficiency disorders. Clin Exp Immunol. 2017;188(3):326–32. https://doi.org/10.1111/cei.12947.

    Article  CAS  PubMed  Google Scholar 

  158. Grimbacher B, Hutloff A, Schlesier M, Glocker E, Warnatz K, Drager R, et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat Immunol. 2003;4(3):261–8. https://doi.org/10.1038/ni902.

    Article  CAS  PubMed  Google Scholar 

  159. Castigli E, Wilson SA, Garibyan L, Rachid R, Bonilla F, Schneider L, et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet. 2005;37(8):829–34. https://doi.org/10.1038/ng1601.

    Article  CAS  PubMed  Google Scholar 

  160. Salzer U, Chapel HM, Webster AD, Pan-Hammarstrom Q, Schmitt-Graeff A, Schlesier M, et al. Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet. 2005;37(8):820–8. https://doi.org/10.1038/ng1600.

    Article  CAS  PubMed  Google Scholar 

  161. Malphettes M, Gerard L, Carmagnat M, Mouillot G, Vince N, Boutboul D, et al. Late-onset combined immune deficiency: a subset of common variable immunodeficiency with severe T cell defect. Clin Infect Dis. 2009;49(9):1329–38. https://doi.org/10.1086/606059.

    Article  CAS  PubMed  Google Scholar 

  162. Malamut G, Verkarre V, Suarez F, Viallard JF, Lascaux AS, Cosnes J, et al. The enteropathy associated with common variable immunodeficiency: the delineated frontiers with celiac disease. Am J Gastroenterol. 2010;105(10):2262–75. https://doi.org/10.1038/ajg.2010.214.

    Article  CAS  PubMed  Google Scholar 

  163. Mannon PJ, Fuss IJ, Dill S, Friend J, Groden C, Hornung R, et al. Excess IL-12 but not IL-23 accompanies the inflammatory bowel disease associated with common variable immunodeficiency. Gastroenterology. 2006;131(3):748–56. https://doi.org/10.1053/j.gastro.2006.06.022.

    Article  CAS  PubMed  Google Scholar 

  164. Oksenhendler E, Gerard L, Fieschi C, Malphettes M, Mouillot G, Jaussaud R, et al. Infections in 252 patients with common variable immunodeficiency. Clin Infect Dis. 2008;46(10):1547–54. https://doi.org/10.1086/587669.

    Article  PubMed  Google Scholar 

  165. Ardeniz O, Cunningham-Rundles C. Granulomatous disease in common variable immunodeficiency. Clin Immunol (Orlando, FL). 2009;133(2):198–207. https://doi.org/10.1016/j.clim.2009.05.001.

    Article  CAS  Google Scholar 

  166. Cunningham-Rundles C. The many faces of common variable immunodeficiency. Hematology Am Soc Hematol Educ Program. 2012;2012:301–5. https://doi.org/10.1182/asheducation-2012.1.301.

    Article  PubMed  Google Scholar 

  167. Boursiquot JN, Gerard L, Malphettes M, Fieschi C, Galicier L, Boutboul D, et al. Granulomatous disease in CVID: retrospective analysis of clinical characteristics and treatment efficacy in a cohort of 59 patients. J Clin Immunol. 2013;33(1):84–95. https://doi.org/10.1007/s10875–012–9778–9.

    Article  CAS  PubMed  Google Scholar 

  168. Teahon K, Webster AD, Price AB, Weston J, Bjarnason I. Studies on the enteropathy associated with primary hypogammaglobulinaemia. Gut. 1994;35(9):1244–9.

    CAS  PubMed  PubMed Central  Google Scholar 

  169. Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol (Orlando, FL). 1999;92(1):34–48. https://doi.org/10.1006/clim.1999.4725.

    Article  CAS  Google Scholar 

  170. Khodadad A, Aghamohammadi A, Parvaneh N, Rezaei N, Mahjoob F, Bashashati M, et al. Gastrointestinal manifestations in patients with common variable immunodeficiency. Dig Dis Sci. 2007;52(11):2977–83. https://doi.org/10.1007/s10620–006–9736–6.

    Article  PubMed  Google Scholar 

  171. Jorgensen SF, Reims HM, Frydenlund D, Holm K, Paulsen V, Michelsen AE, et al. A cross-sectional study of the prevalence of gastrointestinal symptoms and pathology in patients with common variable immunodeficiency. Am J Gastroenterol. 2016;111(10):1467–75. https://doi.org/10.1038/ajg.2016.329.

    Article  CAS  PubMed  Google Scholar 

  172. Lougaris V, Ravelli A, Villanacci V, Salemme M, Soresina A, Fuoti M, et al. Gastrointestinal pathologic abnormalities in pediatric- and adult-onset common variable immunodeficiency. Dig Dis Sci. 2015;60(8):2384–9. https://doi.org/10.1007/s10620–015–3638–4.

    Article  CAS  PubMed  Google Scholar 

  173. Uzzan M, Ko HM, Mehandru S, Cunningham-Rundles C. Gastrointestinal disorders associated with common variable immune deficiency (CVID) and chronic granulomatous disease (CGD). Curr Gastroenterol Rep. 2016;18(4):17. https://doi.org/10.1007/s11894–016–0491–3.

    Article  PubMed  PubMed Central  Google Scholar 

  174. Woodward JM, Gkrania-Klotsas E, Cordero-Ng AY, Aravinthan A, Bandoh BN, Liu H, et al. The role of chronic norovirus infection in the enteropathy associated with common variable immunodeficiency. Am J Gastroenterol. 2015;110(2):320–7. https://doi.org/10.1038/ajg.2014.432.

    Article  CAS  PubMed  Google Scholar 

  175. Woodward J, Gkrania-Klotsas E, Kumararatne D. Chronic norovirus infection and common variable immunodeficiency. Clin Exp Immunol. 2017;188(3):363–70. https://doi.org/10.1111/cei.12884.

    Article  CAS  PubMed  Google Scholar 

  176. Agarwal S, Smereka P, Harpaz N, Cunningham-Rundles C, Mayer L. Characterization of immunologic defects in patients with common variable immunodeficiency (CVID) with intestinal disease. Inflamm Bowel Dis. 2011;17(1):251–9. https://doi.org/10.1002/ibd.21376.

    Article  PubMed  Google Scholar 

  177. Maarschalk-Ellerbroek LJ, Oldenburg B, Mombers IM, Hoepelman AI, Brosens LA, Offerhaus GJ, et al. Outcome of screening endoscopy in common variable immunodeficiency disorder and X-linked agammaglobulinemia. Endoscopy. 2013;45(4):320–3. https://doi.org/10.1055/s-0032–1326078.

    Article  CAS  PubMed  Google Scholar 

  178. Daniels JA, Lederman HM, Maitra A, Montgomery EA. Gastrointestinal tract pathology in patients with common variable immunodeficiency (CVID): a clinicopathologic study and review. Am J Surg Pathol. 2007;31(12):1800–12. https://doi.org/10.1097/PAS.0b013e3180cab60c.

    Article  PubMed  Google Scholar 

  179. Washington K, Stenzel TT, Buckley RH, Gottfried MR. Gastrointestinal pathology in patients with common variable immunodeficiency and X-linked agammaglobulinemia. Am J Surg Pathol. 1996;20(10):1240–52.

    CAS  PubMed  Google Scholar 

  180. Luzi G, Zullo A, Iebba F, Rinaldi V, Sanchez Mete L, Muscaritoli M, et al. Duodenal pathology and clinical-immunological implications in common variable immunodeficiency patients. Am J Gastroenterol. 2003;98(1):118–21. https://doi.org/10.1111/j.1572–0241.2003.07159.x.

    Article  PubMed  Google Scholar 

  181. Biagi F, Bianchi PI, Zilli A, Marchese A, Luinetti O, Lougaris V, et al. The significance of duodenal mucosal atrophy in patients with common variable immunodeficiency: a clinical and histopathologic study. Am J Clin Pathol. 2012;138(2):185–9. https://doi.org/10.1309/ajcpeiilh2c0wfye.

    Article  PubMed  Google Scholar 

  182. Quinti I, Soresina A, Guerra A, Rondelli R, Spadaro G, Agostini C, et al. Effectiveness of immunoglobulin replacement therapy on clinical outcome in patients with primary antibody deficiencies: results from a multicenter prospective cohort study. J Clin Immunol. 2011;31(3):315–22. https://doi.org/10.1007/s10875–011–9511–0.

    Article  CAS  PubMed  Google Scholar 

  183. Dhalla F, da Silva SP, Lucas M, Travis S, Chapel H. Review of gastric cancer risk factors in patients with common variable immunodeficiency disorders, resulting in a proposal for a surveillance programme. Clin Exp Immunol. 2011;165(1):1–7. https://doi.org/10.1111/j.1365–2249.2011.04384.x.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  184. Gangemi S, Allegra A, Musolino C. Lymphoproliferative disease and cancer among patients with common variable immunodeficiency. Leuk Res. 2015;39(4):389–96. https://doi.org/10.1016/j.leukres.2015.02.002.

    Article  CAS  PubMed  Google Scholar 

  185. Bruton OC. Agammaglobulinemia. Pediatrics. 1952;9(6):722–8.

    CAS  PubMed  Google Scholar 

  186. Vetrie D, Vorechovsky I, Sideras P, Holland J, Davies A, Flinter F, et al. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature. 1993;361(6409):226–33. https://doi.org/10.1038/361226a0.

    Article  CAS  PubMed  Google Scholar 

  187. Tsukada S, Saffran DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, et al. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell. 1993;72(2):279–90.

    CAS  PubMed  Google Scholar 

  188. Conley ME, Rohrer J, Minegishi Y. X-linked agammaglobulinemia. Clin Rev Allergy Immunol. 2000;19(2):183–204. https://doi.org/10.1385/criai:19:2:183.

    Article  CAS  PubMed  Google Scholar 

  189. Winkelstein JA, Marino MC, Lederman HM, Jones SM, Sullivan K, Burks AW, et al. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine. 2006;85(4):193–202. https://doi.org/10.1097/01.md.0000229482.27398.ad.

    Article  PubMed  Google Scholar 

  190. Conley ME, Broides A, Hernandez-Trujillo V, Howard V, Kanegane H, Miyawaki T, et al. Genetic analysis of patients with defects in early B-cell development. Immunol Rev. 2005;203:216–34. https://doi.org/10.1111/j.0105–2896.2005.00233.x.

    Article  CAS  PubMed  Google Scholar 

  191. Ponader S, Burger JA. Bruton’s tyrosine kinase: from X-linked agammaglobulinemia toward targeted therapy for B-cell malignancies. J Clin Oncol. 2014;32(17):1830–9. https://doi.org/10.1200/jco.2013.53.1046.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  192. Holinski-Feder E, Weiss M, Brandau O, Jedele KB, Nore B, Backesjo CM, et al. Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course. Pediatrics. 1998;101(2):276–84.

    CAS  PubMed  Google Scholar 

  193. Broides A, Yang W, Conley ME. Genotype/phenotype correlations in X-linked agammaglobulinemia. Clin Immunol (Orlando, FL). 2006;118(2–3):195–200. https://doi.org/10.1016/j.clim.2005.10.007.

    Article  CAS  Google Scholar 

  194. Lopez-Granados E, Perez de Diego R, Ferreira Cerdan A, Fontan Casariego G, Garcia Rodriguez MC. A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia. J Allergy Clin Immunol. 2005;116(3):690–7. https://doi.org/10.1016/j.jaci.2005.04.043.

    Article  CAS  PubMed  Google Scholar 

  195. Bearden D, Collett M, Quan PL, Costa-Carvalho BT, Sullivan KE. Enteroviruses in X-linked agammaglobulinemia: update on epidemiology and therapy. J Allergy Clin Immunol Pract. 2016;4(6):1059–65. https://doi.org/10.1016/j.jaip.2015.12.015.

    Article  PubMed  Google Scholar 

  196. Agarwal S, Mayer L. Diagnosis and treatment of gastrointestinal disorders in patients with primary immunodeficiency. Clin Gastroenterol Hepatol. 2013;11(9):1050–63. https://doi.org/10.1016/j.cgh.2013.02.024.

    Article  PubMed  PubMed Central  Google Scholar 

  197. Barmettler S, Otani IM, Minhas J, Abraham RS, Chang Y, Dorsey MJ, et al. Gastrointestinal manifestations in X-linked agammaglobulinemia. J Clin Immunol. 2017;37(3):287–94. https://doi.org/10.1007/s10875–017–0374-x.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  198. Lederman HM, Winkelstein JA. X-linked agammaglobulinemia: an analysis of 96 patients. Medicine. 1985;64(3):145–56.

    CAS  PubMed  Google Scholar 

  199. Hernandez-Trujillo VP, Scalchunes C, Cunningham-Rundles C, Ochs HD, Bonilla FA, Paris K, et al. Autoimmunity and inflammation in X-linked agammaglobulinemia. J Clin Immunol. 2014;34(6):627–32. https://doi.org/10.1007/s10875–014–0056-x.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  200. Cellier C, Foray S, Hermine O. Regional enteritis associated with enterovirus in a patient with X-linked agammaglobulinemia. N Engl J Med. 2000;342(21):1611–2. https://doi.org/10.1056/nejm200005253422113.

    Article  CAS  PubMed  Google Scholar 

  201. Abramowsky CR, Sorensen RU. Regional enteritis-like enteropathy in a patient with agammaglobulinemia: histologic and immunocytologic studies. Hum Pathol. 1988;19(4):483–6.

    CAS  PubMed  Google Scholar 

  202. van der Meer JW, Weening RS, Schellekens PT, van Munster IP, Nagengast FM. Colorectal cancer in patients with X-linked agammaglobulinaemia. Lancet (London, England). 1993;341(8858):1439–40.

    Google Scholar 

  203. Bachmeyer C, Monge M, Cazier A, Le Deist F, de Saint Basile G, Durandy A, et al. Gastric adenocarcinoma in a patient with X-linked agammaglobulinaemia. Eur J Gastroenterol Hepatol. 2000;12(9):1033–5.

    CAS  PubMed  Google Scholar 

  204. Staines Boone AT, Torres Martinez MG, Lopez Herrera G, de Leija Portilla JO, Espinosa Padilla SE, Espinosa Rosales FJ, et al. Gastric adenocarcinoma in the context of X-linked agammaglobulinemia: case report and review of the literature. J Clin Immunol. 2014;34(2):134–7. https://doi.org/10.1007/s10875–013–9971–5.

    Article  CAS  PubMed  Google Scholar 

  205. Silva P, Justicia A, Regueiro A, Farina S, Couselo JM, Loidi L. Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene. Genes Immun. 2017;18(3):197–9. https://doi.org/10.1038/gene.2017.14.

    Article  CAS  PubMed  Google Scholar 

  206. Yel L, Minegishi Y, Coustan-Smith E, Buckley RH, Trubel H, Pachman LM, et al. Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. N Engl J Med. 1996;335(20):1486–93. https://doi.org/10.1056/nejm199611143352003.

    CAS  PubMed  Google Scholar 

  207. Lopez Granados E, Porpiglia AS, Hogan MB, Matamoros N, Krasovec S, Pignata C, et al. Clinical and molecular analysis of patients with defects in micro heavy chain gene. J Clin Invest. 2002;110(7):1029–35. https://doi.org/10.1172/jci15658.

    Article  PubMed  PubMed Central  Google Scholar 

  208. Notarangelo LD, Duse M, Ugazio AG. Immunodeficiency with hyper-IgM (HIM). Immunodefic Rev. 1992;3(2):101–21.

    CAS  PubMed  Google Scholar 

  209. Winkelstein JA, Marino MC, Ochs H, Fuleihan R, Scholl PR, Geha R, et al. The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine. 2003;82(6):373–84. https://doi.org/10.1097/01.md.0000100046.06009.b0.

    Article  CAS  PubMed  Google Scholar 

  210. Davies EG, Thrasher AJ. Update on the hyper immunoglobulin M syndromes. Br J Haematol. 2010;149(2):167–80. https://doi.org/10.1111/j.1365–2141.2010.08077.x.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  211. Qamar N, Fuleihan RL. The hyper IgM syndromes. Clin Rev Allergy Immunol. 2014;46(2):120–30. https://doi.org/10.1007/s12016–013–8378–7.

    Article  CAS  PubMed  Google Scholar 

  212. Allen RC, Armitage RJ, Conley ME, Rosenblatt H, Jenkins NA, Copeland NG, et al. CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science (New York, NY). 1993;259(5097):990–3.

    CAS  Google Scholar 

  213. Aruffo A, Farrington M, Hollenbaugh D, Li X, Milatovich A, Nonoyama S, et al. The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. Cell. 1993;72(2):291–300.

    CAS  PubMed  Google Scholar 

  214. DiSanto JP, Bonnefoy JY, Gauchat JF, Fischer A, de Saint Basile G. CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM. Nature. 1993;361(6412):541–3. https://doi.org/10.1038/361541a0.

    Article  CAS  PubMed  Google Scholar 

  215. Korthauer U, Graf D, Mages HW, Briere F, Padayachee M, Malcolm S, et al. Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. Nature. 1993;361(6412):539–41. https://doi.org/10.1038/361539a0.

    Article  CAS  PubMed  Google Scholar 

  216. Leven EA, Maffucci P, Ochs HD, Scholl PR, Buckley RH, Fuleihan RL, et al. Hyper IgM syndrome: a report from the USIDNET registry. J Clin Immunol. 2016;36(5):490–501. https://doi.org/10.1007/s10875–016–0291–4.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  217. Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, et al. Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr. 1997;131(1 Pt 1):47–54.

    CAS  PubMed  Google Scholar 

  218. Hayward AR, Levy J, Facchetti F, Notarangelo L, Ochs HD, Etzioni A, et al. Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM. J Immunol. 1997;158(2):977–83.

    CAS  PubMed  Google Scholar 

  219. Erdos M, Garami M, Rakoczi E, Zalatnai A, Steinbach D, Baumann U, et al. Neuroendocrine carcinoma associated with X-linked hyper-immunoglobulin M syndrome: report of four cases and review of the literature. Clin Immunol (Orlando, FL). 2008;129(3):455–61. https://doi.org/10.1016/j.clim.2008.08.005.

    Article  CAS  Google Scholar 

  220. Cirillo E, Giardino G, Gallo V, D’Assante R, Grasso F, Romano R, et al. Severe combined immunodeficiency—an update. Ann N Y Acad Sci. 2015;1356:90–106. https://doi.org/10.1111/nyas.12849.

    Article  PubMed  Google Scholar 

  221. Agarwal S, Mayer L. Gastrointestinal manifestations in primary immune disorders. Inflamm Bowel Dis. 2010;16(4):703–11. https://doi.org/10.1002/ibd.21040.

    Article  PubMed  Google Scholar 

  222. Cossu F. Genetics of SCID. Ital J Pediatr. 2010;36:76. https://doi.org/10.1186/1824–7288–36–76.

    Article  PubMed  PubMed Central  Google Scholar 

  223. Fischer A, Notarangelo LD, Neven B, Cavazzana M, Puck JM. Severe combined immunodeficiencies and related disorders. Nat Rev Dis Primers. 2015;1:15061. https://doi.org/10.1038/nrdp.2015.61.

    Article  PubMed  Google Scholar 

  224. Shearer WT, Dunn E, Notarangelo LD, Dvorak CC, Puck JM, Logan BR, et al. Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. J Allergy Clin Immunol. 2014;133(4):1092–8. https://doi.org/10.1016/j.jaci.2013.09.044.

    Article  PubMed  Google Scholar 

  225. Honig M, Schwarz K. Omenn syndrome: a lack of tolerance on the background of deficient lymphocyte development and maturation. Curr Opin Rheumatol. 2006;18(4):383–8. https://doi.org/10.1097/01.bor.0000231907.50290.6f.

    Article  PubMed  Google Scholar 

  226. Felgentreff K, Perez-Becker R, Speckmann C, Schwarz K, Kalwak K, Markelj G, et al. Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. Clin Immunol (Orlando, FL). 2011;141(1):73–82. https://doi.org/10.1016/j.clim.2011.05.007.

    Article  CAS  Google Scholar 

  227. Humblet-Baron S, Schonefeldt S, Garcia-Perez JE, Baron F, Pasciuto E, Liston A. Cytotoxic T-lymphocyte-associated protein 4-Ig effectively controls immune activation and inflammatory disease in a novel murine model of leaky severe combined immunodeficiency. J Allergy Clin Immunol. 2017;140(5):1394–403.e8. https://doi.org/10.1016/j.jaci.2016.12.968.

    Article  CAS  PubMed  Google Scholar 

  228. Omenn GS. Familial reticuloendotheliosis with eosinophilia. N Engl J Med. 1965;273:427–32. https://doi.org/10.1056/nejm196508192730806.

    Article  CAS  PubMed  Google Scholar 

  229. Rota IA, Dhalla F. FOXN1 deficient nude severe combined immunodeficiency. Orphanet J Rare Dis. 2017;12(1):6. https://doi.org/10.1186/s13023–016–0557–1.

    Article  PubMed  PubMed Central  Google Scholar 

  230. Moreno LA, Gottrand F, Turck D, Manouvrier-Hanu S, Mazingue F, Morisot C, et al. Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family. Am J Med Genet. 1990;37(1):143–6. https://doi.org/10.1002/ajmg.1320370133.

    Article  CAS  PubMed  Google Scholar 

  231. Rothenberg ME, White FV, Chilmonczyk B, Chatila T. A syndrome involving immunodeficiency and multiple intestinal atresias. Immunodeficiency. 1995;5(3):171–8.

    CAS  PubMed  Google Scholar 

  232. Cole C, Freitas A, Clifton MS, Durham MM. Hereditary multiple intestinal atresias: 2 new cases and review of the literature. J Pediatr Surg. 2010;45(4):E21–4. https://doi.org/10.1016/j.jpedsurg.2010.01.017.

    Article  PubMed  Google Scholar 

  233. Snover DC, Filipovich AH, Ramsay NK, Weisdorf SA, Kersey JH. Graft-versus-host-disease-like histopathological findings in pre-bone-marrow transplantation biopsies of patients with severe T cell deficiency. Transplantation. 1985;39(1):95–7.

    CAS  PubMed  Google Scholar 

  234. Muller SM, Ege M, Pottharst A, Schulz AS, Schwarz K, Friedrich W. Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: a study of 121 patients. Blood. 2001;98(6):1847–51.

    CAS  PubMed  Google Scholar 

  235. Antachopoulos C. Invasive fungal infections in congenital immunodeficiencies. Clin Microbiol Infect. 2010;16(9):1335–42. https://doi.org/10.1111/j.1469–0691.2010.03289.x.

    Article  CAS  PubMed  Google Scholar 

  236. Boeck A, Buckley RH, Schiff RI. Gastroesophageal reflux and severe combined immunodeficiency. J Allergy Clin Immunol. 1997;99(3):420–4.

    CAS  PubMed  Google Scholar 

  237. Sponzilli I, Notarangelo LD. Severe combined immunodeficiency (SCID): from molecular basis to clinical management. Acta Biomed. 2011;82(1):5–13.

    CAS  PubMed  Google Scholar 

  238. Thrasher AJ, Williams DA. Evolving gene therapy in primary immunodeficiency. Mol Ther. 2017;25(5):1132–41. https://doi.org/10.1016/j.ymthe.2017.03.018.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  239. Ochs HD, Filipovich AH, Veys P, Cowan MJ, Kapoor N. Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment. Biol Blood Marrow Transplant. 2009;15(1 Suppl):84–90. https://doi.org/10.1016/j.bbmt.2008.10.007.

    Article  PubMed  Google Scholar 

  240. Ariga T. Wiskott-Aldrich syndrome; an x-linked primary immunodeficiency disease with unique and characteristic features. Allergol Int. 2012;61(2):183–9. https://doi.org/10.2332/allergolint.11-RAI-0412.

    Article  CAS  PubMed  Google Scholar 

  241. Massaad MJ, Ramesh N, Geha RS. Wiskott-Aldrich syndrome: a comprehensive review. Ann N Y Acad Sci. 2013;1285:26–43. https://doi.org/10.1111/nyas.12049.

    Article  CAS  PubMed  Google Scholar 

  242. Derry JM, Ochs HD, Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell. 1994;78(4):635–44.

    CAS  PubMed  Google Scholar 

  243. Ozsahin H, Cavazzana-Calvo M, Notarangelo LD, Schulz A, Thrasher AJ, Mazzolari E, et al. Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation. Blood. 2008;111(1):439–45. https://doi.org/10.1182/blood-2007–03–076679.

    Article  CAS  PubMed  Google Scholar 

  244. Notarangelo LD, Miao CH, Ochs HD. Wiskott-Aldrich syndrome. Curr Opin Hematol. 2008;15(1):30–6. https://doi.org/10.1097/MOH.0b013e3282f30448.

    Article  CAS  PubMed  Google Scholar 

  245. Dupuis-Girod S, Medioni J, Haddad E, Quartier P, Cavazzana-Calvo M, Le Deist F, et al. Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics. 2003;111(5 Pt 1):e622–7.

    PubMed  Google Scholar 

  246. Cannioto Z, Berti I, Martelossi S, Bruno I, Giurici N, Crovella S, et al. IBD and IBD mimicking enterocolitis in children younger than 2 years of age. Eur J Pediatr. 2009;168(2):149–55. https://doi.org/10.1007/s00431–008–0721–2.

    Article  CAS  PubMed  Google Scholar 

  247. Folwaczny C, Ruelfs C, Walther J, Konig A, Emmerich B. Ulcerative colitis in a patient with Wiskott-Aldrich syndrome. Endoscopy. 2002;34(10):840–1. https://doi.org/10.1055/s-2002–34272.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA

    Tsung-Teh Wu

Authors
  1. Tsung-Teh Wu
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Tsung-Teh Wu .

Editor information

Editors and Affiliations

  1. Mayo Clinic, Rochester, MN, USA

    Lizhi Zhang

  2. University of California Irvine, Irvine, CA, USA

    Vishal S. Chandan

  3. Mayo Clinic, Rochester, MN, USA

    Tsung-Teh Wu

Rights and permissions

Reprints and permissions

Copyright information

© 2019 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Wu, TT. (2019). Other Inflammatory Disorders of Duodenum. In: Zhang, L., Chandan, V., Wu, TT. (eds) Surgical Pathology of Non-neoplastic Gastrointestinal Diseases. Springer, Cham. https://doi.org/10.1007/978-3-030-15573-5_10

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-15573-5_10

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-15572-8

  • Online ISBN: 978-3-030-15573-5

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation