Abstract
Inborn errors of metabolism consist of a heterogeneous group of disorders with various organ systems manifestations, and some metabolic diseases also cause immunological disorders or dysregulation. In this review, metabolic diseases that affect the immunological system and particularly lead to primary immune deficiency will be reviewed. In a patient with frequent infections and immunodeficiency, the presence of symptoms such as growth retardation, abnormal facial appearance, heart, skeletal, lung deformities, skin findings, arthritis, motor developmental retardation, seizure, deafness, hepatomegaly, splenomegaly, impairment of liver function tests, the presence of anemia, thrombocytopenia and eosinophilia in hematological examinations should suggest metabolic diseases for the underlying cause. In some patients, these phenotypic findings may appear before the immunodeficiency picture. Metabolic diseases leading to immunological disorders are likely to be rare but probably underdiagnosed. Therefore, the presence of recurrent infections or autoimmune findings in a patient with a suspected metabolic disease should suggest that immune deficiency may also accompany the picture, and diagnostic examinations in this regard should be deepened.
Research funding: None declared.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
References
1. Picard, C, Bobby Gaspar, H, Al-Herz, W, Bousfiha, A, Casanova, JL, Chatila, T, et al.. International union of immunological societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity. J Clin Immunol 2018;38:96–128.10.1007/s10875-017-0464-9Search in Google Scholar PubMed PubMed Central
2. Raje, N, Dinakar, C. Overview of immunodeficiency disorders. Immunol Allergy Clin 2015;35:599–623.10.1016/j.iac.2015.07.001Search in Google Scholar PubMed PubMed Central
3. Saudubray, JM, Garcia-Cazorla, A. An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders. Dialogues Clin Neurosci 2018;20:301–25.10.31887/DCNS.2018.20.4/jmsaudubraySearch in Google Scholar
4. Lloyd, DFA, Vara, R, Mathur, S. Cardiac manifestations of inherited metabolic disease in children. Pediatr Int 2017;59:525–9.10.1111/ped.13272Search in Google Scholar PubMed
5. Guerrero, RB, Kloke, KM, Salazar, D. Inborn errors of metabolism and the gastrointestinal tract. Gastroenterol Clin N Am 2019;48:183–98.10.1016/j.gtc.2019.02.001Search in Google Scholar PubMed
6. Fumagalli, M, Lecca, D, Abbracchio, MP, Ceruti, S. Pathophysiological role of purines and pyrimidines in neurodevelopment: unveiling new pharmacological approaches to congenital brain diseases. Front Pharmacol 2017;8:941.10.3389/fphar.2017.00941Search in Google Scholar PubMed PubMed Central
7. Camici, M, Micheli, V, Ipata, PL, Tozzi, MG. Pediatric neurological syndromes and inborn errors of purine metabolism. Neurochem Int 2010;56:367–78.10.1016/j.neuint.2009.12.003Search in Google Scholar PubMed
8. Quéméneur, L, Gerland, L-M, Flacher, M, Ffrench, M, Revillard, J-P, Genestier, L. Differential control of cell cycle, proliferation, and survival of primary T lymphocytes by purine and pyrimidine nucleotides. J Immunol 2003;170:4986–95.10.4049/jimmunol.170.10.4986Search in Google Scholar PubMed
9. Wilcken, B. Leukoencephalopathies associated with disorders of cobalamin and folate metabolism. Semin Neurol 2012;32:68–74.10.1055/s-0032-1306389Search in Google Scholar PubMed
10. Kubová, H, Folbergrová, J, Mareš, P. Seizures induced by homocysteine in rats during ontogenesis. Epilepsia 1995;36:750–6.10.1111/j.1528-1157.1995.tb01611.xSearch in Google Scholar PubMed
11. Mareš, P, Folbergrová, J, Langmeier, M, Haugvicová, R, Kubová, H. Convulsant action of D,L-Homocysteic acid and its stereoisomers in immature rats. Epilepsia 1997;38:767–76.10.1111/j.1528-1157.1997.tb01463.xSearch in Google Scholar
12. Huemer, M, Diodato, D, Schwahn, B, Schiff, M, Bandeira, A, Benoist, J-F, et al.. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. J Inherit Metab Dis 2017;40:21–48.10.1007/s10545-016-9991-4Search in Google Scholar
13. Agrawal, S, Agrawal, A, Said, HM. Biotin deficiency enhances the inflammatory response of human dendritic cells. Am J Physiol Cell Physiol 2016;311:C386–91.10.1152/ajpcell.00141.2016Search in Google Scholar
14. Cowan, MJ, Packman, S, Wara, DW, Ammann, AJ, Yoshino, M, Sweetman, L, et al.. Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity. Lancet 1979;2:115–8.10.1016/S0140-6736(79)90002-3Search in Google Scholar
15. Kiykim, E, Kiykim, A, Cansever, MS, Aktuglu Zeybek, CA. Biotinidase deficiency mimicking primary immune deficiencies. BMJ Case Rep 2015;2015:bcr2014209275.10.1136/bcr-2014-209275Search in Google Scholar PubMed PubMed Central
16. Kardas, F, Patiroglu, T, Unal, E, Chiang, SCC, Bryceson, YT, Kendirci, M. Hemophagocytic syndrome in a 4-month-old infant with biotinidase deficiency. Pediatr Blood Canc 2012;59:191–3.10.1002/pbc.23247Search in Google Scholar PubMed
17. Karagoz, T, Coskun, T, Ozalp, I, Ozkaya, E, Ersoy, F. Immune functions in children with classical phenylketonuria and tetrahydrobiopterin deficiencies. Indian Pediatr 2003;40:822–33.Search in Google Scholar
18. Gokce, M, Unal, O, Hismi, B, Gumruk, F, Coskun, T, Balta, G, et al.. Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism. Pediatr Hematol Oncol 2012;29:92–8.10.3109/08880018.2011.601402Search in Google Scholar PubMed
19. Al-Essa, M, Dhaunsi, GS, Al-Qabandi, W, Khan, I. Impaired NADPH oxidase activity in peripheral blood lymphocytes of galactosemia patients. Exp Biol Med 2013;238:779–86.10.1177/1535370213480692Search in Google Scholar PubMed
20. Tarasenko, TN, Gomez-Rodriguez, J, McGuire, PJ. Impaired T cell function in argininosuccinate synthetase deficiency. J Leukoc Biol 2015;97:273–8.10.1189/jlb.1AB0714-365RSearch in Google Scholar PubMed PubMed Central
21. Monticelli, M, Ferro, T, Jaeken, J, dos Reis Ferreira, V, Videira, PA. Immunological aspects of congenital disorders of glycosylation (CDG): a review. J Inherit Metab Dis 2016;39:765–80.10.1007/s10545-016-9954-9Search in Google Scholar PubMed
22. Ibarra-González, I, Fernández-Lainez, C, Guillén-López, S, López-Mejía, L, Belmont-Matínez, L, Sokolsky, TD, et al.. Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia. Clin Chim Acta 2020;501:216–21.10.1016/j.cca.2019.10.041Search in Google Scholar
23. Dworski, S, Lu, P, Khan, A, Maranda, B, Mitchell, JJ, Parini, R, et al.. Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy. Biochim Biophys Acta (BBA) – Mol Basis Dis 2017;1863:386–94.10.1016/j.bbadis.2016.11.031Search in Google Scholar
24. van der Meer, SB, Poggi, F, Spada, M, Bonnefont, JP, Ogier, H, Hubert, P, et al.. Clinical outcome and long-term management of 17 patients with propionic acidaemia. Eur J Pediatr 1996;155:205–10.10.1007/BF01953939Search in Google Scholar
25. Werlin, SLE. Coli sepsis as a presenting sign in neonatal propionic acidemia. Am J Med Genet 1993;46:455–6.10.1002/ajmg.1320460423Search in Google Scholar
26. Baumgartner, MR, Hörster, F, Dionisi-Vici, C, Haliloglu, G, Karall, D, Chapman, KA, et al.. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis 2014;9:130.10.1186/s13023-014-0130-8Search in Google Scholar
27. Stork, LC, Ambruso, DR, Wallner, SF, Sambrano, JE, Moscinski, LC, Wilson, HL, et al.. Pancytopenia in propionic acidemia: hematologic evaluation and studies of hematopoiesis in vitro. Pediatr Res 1986;20:783–8.10.1203/00006450-198608000-00017Search in Google Scholar
28. Raby, RB, Ward, JC, Herrod, HG. Propionic acidaemia and immunodeficiency. J Inherit Metab Dis 1994;17:250–1.10.1007/BF00711631Search in Google Scholar
29. Church, JA, Koch, R, Shaw, KNF, Nye, CA, Donnell, GN. Immune functions in methylmalonicaciduria. J Inherit Metab Dis 1984;7:12–4.10.1007/BF01805612Search in Google Scholar
30. Litchfield, WJ, Wells, WW. Effect of galactose on free radical reactions of polymorphonuclear leukocytes. Arch Biochem Biophys 1978;188:26–30.10.1016/0003-9861(78)90351-XSearch in Google Scholar
31. Coss, KP, Hawkes, CP, Adamczyk, B, Stöckmann, H, Crushell, E, Saldova, R, et al.. N-glycan abnormalities in children with galactosemia. J Proteome Res 2014;13:385–94.10.1021/pr4008305Search in Google Scholar PubMed
32. Kobayashi, RH, Kettelhut, B V., Kobayashi, AL. Galactose inhibition of neonatal neutrophil function. Pediatr Infect Dis 1983;2:442–5.10.1097/00006454-198311000-00006Search in Google Scholar PubMed
33. Waggoner, DD, Buist, NRM, Donnell, GN. Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inherit Metab Dis 1990;13:802–18.10.1007/BF01800204Search in Google Scholar PubMed
34. Ferreira, CR, van Karnebeek, CDM, Vockley, J, Blau, N. A proposed nosology of inborn errors of metabolism. Genet Med 2019;42:706–27.10.1038/s41436-018-0022-8Search in Google Scholar PubMed PubMed Central
35. Kwan, A, Abraham, RS, Currier, R, Brower, A, Andruszewski, K, Abbott, JK, et al.. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. J Am Med Assoc 2014;312:729–38.10.1001/jama.2014.9132Search in Google Scholar PubMed PubMed Central
36. Bradford, KL, Moretti, FA, Carbonaro-Sarracino, DA, Gaspar, HB, Kohn, DB. Adenosine deaminase (ADA)-Deficient severe combined immune deficiency (SCID): molecular pathogenesis and clinical manifestations. J Clin Immunol 2017;37:626–37.10.1007/s10875-017-0433-3Search in Google Scholar PubMed
37. Flinn, AM, Gennery, AR. Adenosine deaminase deficiency: a review. Orphanet J Rare Dis 2018;13:65.10.1186/s13023-018-0807-5Search in Google Scholar PubMed PubMed Central
38. Apasov, SG, Blackburn, MR, Kellems, RE, Smith, PT, Sitkovsky, M V. Adenosine deaminase deficiency increases thymic apoptosis and causes defective T cell receptor signaling. J Clin Invest 2001;108:131–41.10.1172/JCI200110360Search in Google Scholar
39. Aluri, J, Desai, M, Gupta, M, Dalvi, A, Terance, A, Rosenzweig, SD, et al.. Clinical, immunological, and molecular findings in 57 patients with severe combined immunodeficiency (SCID) from India. Front Immunol 2019;10:23.10.3389/fimmu.2019.00023Search in Google Scholar PubMed PubMed Central
40. Grunebaum, E, Cutz, E, Roifman, CM. Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency. J Allergy Clin Immunol 2012;129:1588–93.10.1016/j.jaci.2012.02.003Search in Google Scholar PubMed
41. Manson, D, Diamond, L, Oudjhane, K, Hussain, FB, Roifman, C, Grunebaum, E. Characteristic scapular and rib changes on chest radiographs of children with ADA-deficiency SCIDS in the first year of life. Pediatr Radiol 2013;43:589–92.10.1007/s00247-012-2564-2Search in Google Scholar PubMed
42. Kohn, DB, Hershfield, MS, Puck, JM, Aiuti, A, Blincoe, A, Gaspar, HB, et al.. Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency. J Allergy Clin Immunol 2019;143:852–63.10.1016/j.jaci.2018.08.024Search in Google Scholar PubMed PubMed Central
43. Heimall, J, Logan, BR, Cowan, MJ, Notarangelo, LD, Griffith, LM, Puck, JM, et al.. Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study. Blood 2017;130:2718–27.10.1182/blood-2017-05-781849Search in Google Scholar PubMed PubMed Central
44. Cagdas, D, Gur Cetinkaya, P, Karaatmaca, B, Esenboga, S, Tan, C, Yılmaz, T, et al.. ADA deficiency: evaluation of the clinical and laboratory features and the outcome. J Clin Immunol 2018;38:484–93.10.1007/s10875-018-0496-9Search in Google Scholar PubMed
45. Grunebaum, E, Cohen, A, Roifman, CM. Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficiencies. Curr Opin Allergy Clin Immunol 2013;13:630–8.10.1097/ACI.0000000000000006Search in Google Scholar PubMed
46. Hoenig, M, Pannicke, U, Gaspar, HB, Schwarz, K. Recent advances in understanding the pathogenesis and management of reticular dysgenesis. Br J Haematol 2018;180:644–53.10.1111/bjh.15045Search in Google Scholar PubMed
47. Six, E, Lagresle-Peyrou, C, Susini, S, De Chappedelaine, C, Sigrist, N, Sadek, H, et al.. AK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineages. Cell Death Dis 2015;6:e1856.10.1038/cddis.2015.211Search in Google Scholar PubMed PubMed Central
48. Rissone, A, Weinacht, KG, la Marca, G, Bishop, K, Giocaliere, E, Jagadeesh, J, et al.. Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress. J Exp Med 2015;212:1185–202.10.1084/jem.20141286Search in Google Scholar PubMed PubMed Central
49. Pannicke, U, Hönig, M, Hess, I, Friesen, C, Holzmann, K, Rump, E-M, et al.. Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. Nat Genet 2009;41:101–5.10.1038/ng.265Search in Google Scholar PubMed
50. Hoenig, M, Lagresle-Peyrou, C, Pannicke, U, Notarangelo, LD, Porta, F, Gennery, AR, et al.. Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome. Blood 2017;129:2928–38.10.1182/blood-2016-11-745638Search in Google Scholar PubMed PubMed Central
51. Henderson, LA, Frugoni, F, Hopkins, G, Al-Herz, W, Weinacht, K, Comeau, AM, et al.. First reported case of Omenn syndrome in a patient with reticular dysgenesis. J Allergy Clin Immunol 2013;131:1227–30.10.1016/j.jaci.2012.07.045Search in Google Scholar PubMed PubMed Central
52. Chaigne-Delalande, B, Li, F-Y, O’Connor, GM, Lukacs, MJ, Jiang, P, Zheng, L, et al.. Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D. Science 2013;341:186–91.10.1126/science.1240094Search in Google Scholar PubMed PubMed Central
53. Trapani, V, Shomer, N, Rajcan-Separovic, E. The role of MAGT1 in genetic syndromes. Magnes Res 2015;28:46–55.10.1684/mrh.2015.0381Search in Google Scholar
54. Dhalla, F, Murray, S, Sadler, R, Chaigne-Delalande, B, Sadaoka, T, Soilleux, E, et al.. Identification of a novel mutation in MAGT1 and progressive multifocal leucoencephalopathy in a 58-year-old man with XMEN disease. J Clin Immunol 2015;35:112–8.10.1007/s10875-014-0116-2Search in Google Scholar PubMed PubMed Central
55. Ravell, J, Chaigne-Delalande, B, Lenardo, M. X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia disease: a combined immune deficiency with magnesium defect. Curr Opin Pediatr 2014;26:713–9.10.1097/MOP.0000000000000156Search in Google Scholar PubMed PubMed Central
56. Li, F-Y, Chaigne-Delalande, B, Su, H, Uzel, G, Matthews, H, Lenardo, MJ. XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against epstein-barr virus. Blood 2014;123:2148–52.10.1182/blood-2013-11-538686Search in Google Scholar PubMed PubMed Central
57. Byrne, S, Jansen, L, U-King-Im, J-M, Siddiqui, A, Lidov, HGW, Bodi, I, et al.. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain 2016;139:765–81.10.1093/brain/awv393Search in Google Scholar PubMed PubMed Central
58. Hori, I, Otomo, T, Nakashima, M, Miya, F, Negishi, Y, Shiraishi, H, et al.. Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement. Sci Rep 2017;7:3552.10.1038/s41598-017-02840-8Search in Google Scholar PubMed PubMed Central
59. Finocchi, A, Angelino, G, Cantarutti, N, Corbari, M, Bevivino, E, Cascioli, S, et al.. Immunodeficiency in Vici syndrome: a heterogeneous phenotype. Am J Med Genet 2012;158A:434–9.10.1002/ajmg.a.34244Search in Google Scholar PubMed
60. Field, MS, Kamynina, E, Watkins, D, Rosenblatt, DS, Stover, PJ. Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis. Proc Natl Acad Sci U S A 2015;112:400–5.10.1073/pnas.1414555112Search in Google Scholar PubMed PubMed Central
61. Watkins, D, Schwartzentruber, JA, Ganesh, J, Orange, JS, Kaplan, BS, Nunez, LD, et al.. Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1; gene in a single proband. J Med Genet 2011;48:590–92.10.1136/jmedgenet-2011-100286Search in Google Scholar PubMed
62. Burda, P, Kuster, A, Hjalmarson, O, Suormala, T, Bürer, C, Lutz, S, et al.. Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. J Inherit Metab Dis 2015;38:863–72.10.1007/s10545-015-9810-3Search in Google Scholar PubMed
63. Keller, MD, Ganesh, J, Heltzer, M, Paessler, M, Bergqvist, AGC, Baluarte, HJ, et al.. Severe combined immunodeficiency resulting from mutations in MTHFD1. Pediatrics 2013;131:e629–34.10.1542/peds.2012-0899Search in Google Scholar PubMed
64. Ramakrishnan, KA, Pengelly, RJ, Gao, Y, Morgan, M, Patel, S V, Davies, EG, et al.. Precision molecular diagnosis defines specific therapy in combined immunodeficiency with megaloblastic anemia secondary to MTHFD1 deficiency. J Allergy Clin Immunol Pract 2016;4:1160–6.e10.10.1016/j.jaip.2016.07.014Search in Google Scholar PubMed
65. Bergerson, JRE, Freeman, AF. An update on syndromes with a hyper-IgE phenotype. Immunol Allergy Clin 2019;39:49–61.10.1016/j.iac.2018.08.007Search in Google Scholar PubMed
66. Sassi, A, Lazaroski, S, Wu, G, Haslam, SM, Fliegauf, M, Mellouli, F, et al.. Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. J Allergy Clin Immunol 2014;133:1410–9.10.1016/j.jaci.2014.02.025Search in Google Scholar PubMed PubMed Central
67. Stray-Pedersen, A, Backe, PH, Sorte, HS, Mørkrid, L, Chokshi, NY, Erichsen, HC, et al.. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet 2014;95:96–107.10.1016/j.ajhg.2014.05.007Search in Google Scholar PubMed PubMed Central
68. Walker, PLC, Corrigan, A, Arenas, M, Escuredo, E, Fairbanks, L, Marinaki, A. Purine nucleoside phosphorylase deficiency: a mutation update. Nucleos Nucleot Nucleic Acids 2011;30:1243–7.10.1080/15257770.2011.630852Search in Google Scholar PubMed
69. Papinazath, T, Min, W, Sujiththa, S, Cohen, A, Ackerley, C, Roifman, CM, et al.. Effects of purine nucleoside phosphorylase deficiency on thymocyte development. J Allergy Clin Immunol 2011;128:854–63.10.1016/j.jaci.2011.07.039Search in Google Scholar PubMed
70. Arduini, A, Marasco, E, Marucci, G, Pardeo, M, Insalaco, A, Caiello, I, et al.. An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome. Pediatr Rheumatol Online J 2019;17:25.10.1186/s12969-019-0328-3Search in Google Scholar PubMed PubMed Central
71. Shah, N, Lingappa, L, Konanki, R, Rani, S, Vedam, R, Murugan, S. Immunodeficiency, motor delay, and hypouricemia caused by a novel mutation of purine nucleoside phosphorylase gene in an Indian infant. Ann Indian Acad Neurol 2019;22:231–3.10.4103/aian.AIAN_430_17Search in Google Scholar
72. Fekrvand, S, Yazdani, R, Abolhassani, H, Ghaffari, J, Aghamohammadi, A. The first purine nucleoside phosphorylase deficiency patient resembling IgA deficiency and a review of the literature. Immunol Invest 2019;48:410–30.10.1080/08820139.2019.1570249Search in Google Scholar PubMed
73. Ozkinay, F, Pehlivan, S, Onay, H, van den Berg, P, Vardar, F, Koturoglu, G, et al.. Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections. J Child Neurol 2007;22:741–3.10.1177/0883073807302617Search in Google Scholar PubMed
74. Yeates, L, Slatter, MA, Gennery, AR. Infusion of sibling marrow in a patient with purine nucleoside phosphorylase deficiency leads to split mixed donor chimerism and normal immunity. Front Pediatr 2017;5:143.10.3389/fped.2017.00143Search in Google Scholar PubMed PubMed Central
75. Somech, R, Lev, A, Grisaru-Soen, G, Shiran, SI, Simon, AJ, Grunebaum, E. Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency. Immunol Res 2013;56:150–4.10.1007/s12026-012-8380-9Search in Google Scholar PubMed
76. Kumar, A, Ziahosseini, K, Saeed, MU, Pearce, IA, Beare, NA V. Bilateral viral retinitis in a patient with immune deficiency because of purine nucleoside phosphorylase deficiency. Retin Cases Brief Rep 2012;6:153–5.10.1097/ICB.0b013e318218f37eSearch in Google Scholar PubMed
77. Trakadis, YJ, Alfares, A, Bodamer, OA, Buyukavci, M, Christodoulou, J, Connor, P, et al.. Update on transcobalamin deficiency: clinical presentation, treatment and outcome. J Inherit Metab Dis 2014;37:461–73.10.1007/s10545-013-9664-5Search in Google Scholar PubMed
78. Ünal, S, Karahan, F, Arıkoğlu, T, Akar, A, Kuyucu, S. Different presentations of patients with transcobalamin II deficiency: a single-center experience from Turkey. Turk J Haematol 2019;36:37–42.10.4274/tjh.galenos.2018.2018.0230Search in Google Scholar PubMed PubMed Central
79. Chao, MM, Illsinger, S, Yoshimi, A, Das, AM, Kratz, CP. Congenital transcobalamin II deficiency: a rare entity with a broad differential. Klin Pädiatr 2017;229:355–7.10.1055/s-0043-120266Search in Google Scholar PubMed
80. Yildirim, ZK, Nexo, E, Rupar, T, Buyukavci, M. Seven patients with transcobalamin deficiency diagnosed between 2010 and 2014: a single-center experience. J Pediatr Hematol Oncol 2017;39:38–41.10.1097/MPH.0000000000000685Search in Google Scholar PubMed
81. Nashabat, M, Maegawa, G, Nissen, PH, Nexo, E, Al-Shamrani, H, Al-Owain, M, et al.. Long-term outcome of 4 patients with transcobalamin deficiency caused by 2 novel TCN2 mutations. J Pediatr Hematol Oncol 2017;39:430–6.10.1097/MPH.0000000000000857Search in Google Scholar PubMed
82. Li, M, Xu, Y, Wang, Y, Yang, X-A, Jin, D. Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb. J Hum Genet 2019;64:265–8.10.1038/s10038-018-0552-6Search in Google Scholar PubMed
83. Kim, Y-M, Seo, GH, Jung, E, Jang, J-H, Kim, SZ, Lee, BH. Characteristic dysmorphic features in congenital disorders of glycosylation type IIb. J Hum Genet 2018;63:383–6.10.1038/s10038-017-0386-7Search in Google Scholar PubMed
84. Sadat, MA, Moir, S, Chun, T-W, Lusso, P, Kaplan, G, Wolfe, L, et al.. Glycosylation, hypogammaglobulinemia, and resistance to viral infections. N Engl J Med 2014;370:1615–25.10.1056/NEJMoa1302846Search in Google Scholar PubMed PubMed Central
85. Ouadani, H, Ben-Mustapha, I, Ben-ali, M, Ben-khemis, L, Larguèche, B, Boussoffara, R, et al.. Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. Immunogenetics 2016;68:19–28.10.1007/s00251-015-0878-6Search in Google Scholar PubMed
86. Quartier, P, Bustamante, J, Sanal, O, Plebani, A, Debré, M, Deville, A, et al.. Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to activation-induced cytidine deaminase deficiency. Clin Immunol 2004;110:22–9.10.1016/j.clim.2003.10.007Search in Google Scholar PubMed
87. Adang, L, Gavazzi, F, De Simone, M, Fazzi, E, Galli, J, Koh, J, et al.. Developmental outcomes of Aicardi Goutières syndrome. J Child Neurol 2019;35:7–16.10.1177/0883073819870944Search in Google Scholar PubMed PubMed Central
88. Samanta, D, Ramakrishnaiah, R. Recurrent encephalopathy with spinal cord involvement: an atypical manifestation of Aicardi-Goutières syndrome. Ann Indian Acad Neurol 2019;22:111–5.10.4103/aian.AIAN_12_18Search in Google Scholar PubMed PubMed Central
89. Crow, YJ, Chase, DS, Lowenstein Schmidt, J, Szynkiewicz, M, Forte, GMA, Gornall, HL, et al.. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet 2015;167A:296–312.10.1002/ajmg.a.36887Search in Google Scholar PubMed PubMed Central
90. Yarbrough, K, Danko, C, Krol, A, Zonana, J, Leitenberger, S. The importance of chilblains as a diagnostic clue for mild Aicardi–Goutières syndrome. Am J Med Genet 2016;170:3308–12.10.1002/ajmg.a.37944Search in Google Scholar PubMed
91. Garau, J, Cavallera, V, Valente, M, Tonduti, D, Sproviero, D, Zucca, S, et al.. Molecular genetics and interferon signature in the Italian Aicardi Goutières syndrome cohort: report of 12 new cases and literature review. J Clin Med 2019;8:750.10.3390/jcm8050750Search in Google Scholar PubMed PubMed Central
92. Tumienė, B, Voisin, N, Preikšaitienė, E, Petroška, D, Grikinienė, J, Samaitienė, R, et al.. Inflammatory myopathy in a patient with Aicardi-Goutières syndrome. Eur J Med Genet 2017;60:154–8.10.1016/j.ejmg.2016.12.004Search in Google Scholar PubMed
93. Blau, N, Bonafé, L, Krägeloh-Mann, I, Thöny, B, Kierat, L, Häusler, M, et al.. Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome. Neurology 2003;61:642–7.10.1212/01.WNL.0000082726.08631.E7Search in Google Scholar
94. Abdel-Salam, GMH, Zaki, MS, Lebon, P, Meguid, NA. Aicardi-Goutières syndrome: clinical and neuroradiological findings of 10 new cases. Acta Paediatr 2004;93:929–36.10.1111/j.1651-2227.2004.tb02691.xSearch in Google Scholar PubMed
95. Sozeri, B, Ercan, G, Dogan, OA, Yıldız, J, Demir, F, Doğanay, L. The same mutation in a family with adenosine deaminase 2 deficiency. Rheumatol Int 2019. https://doi.org/10.1007/s00296-019-04444-z.Search in Google Scholar
96. Sahin, S, Adrovic, A, Kasapcopur, O. A monogenic autoinflammatory disease with fatal vasculitis: deficiency of adenosine deaminase 2. Curr Opin Rheumatol 2020;32:3–14.10.1097/BOR.0000000000000669Search in Google Scholar PubMed
97. Ombrello, AK, Qin, J, Hoffmann, PM, Kumar, P, Stone, D, Jones, A, et al.. Treatment strategies for deficiency of adenosine deaminase 2. N Engl J Med 2019;380:1582–4.10.1056/NEJMc1801927Search in Google Scholar PubMed PubMed Central
98. Veiga-da-Cunha, M, Van Schaftingen, E, Bommer, GT. Inborn errors of metabolite repair. J Inherit Metab Dis 2020;43:14–24.10.1002/jimd.12187Search in Google Scholar PubMed PubMed Central
99. Kiykim, A, Baris, S, Karakoc-Aydiner, E, Ozen, AO, Ogulur, I, Bozkurt, S, et al.. G6PC3 deficiency: primary immune deficiency beyond just neutropenia. J Pediatr Hematol Oncol 2015;37:616–22.10.1097/MPH.0000000000000441Search in Google Scholar PubMed
100. Boztug, K, Rosenberg, PS, Dorda, M, Banka, S, Moulton, T, Curtin, J, et al.. Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel Genotypes and phenotypic variability in severe congenital neutropenia. J Pediatr 2012;160:679–83.10.1016/j.jpeds.2011.09.019Search in Google Scholar PubMed
101. Veiga-da-Cunha, M, Chevalier, N, Stephenne, X, Defour, J-P, Paczia, N, Ferster, A, et al.. Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency. Proc Natl Acad Sci U S A 2019;116:1241–50.10.1073/pnas.1816143116Search in Google Scholar PubMed PubMed Central
102. Chou, JY, Jun, HS, Mansfield, BC. Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes. J Inherit Metab Dis 2015;38:511–9.10.1007/s10545-014-9772-xSearch in Google Scholar PubMed
103. Visser, G, Rake, J-P, Fernandes, J, Labrune, P, Leonard, J V, Moses, S, et al.. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease Type I. J Pediatr 2000;137:187–91.10.1067/mpd.2000.105232Search in Google Scholar PubMed
104. Sarajlija, A, Djordjevic, M, Kecman, B, Skakic, A, Pavlovic, S, Pasic, S, et al.. Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib. Eur J Med Genet 2020;63:103767.10.1016/j.ejmg.2019.103767Search in Google Scholar PubMed
105. Jun, HS, Weinstein, DA, Lee, YM, Mansfield, BC, Chou, JY. Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib. Blood 2014;123:2843–53.10.1182/blood-2013-05-502435Search in Google Scholar PubMed PubMed Central
106. Kuijpers, TW, Maianski, NA, Tool, ATJ, Smit, GPA, Rake, JP, Roos, D, et al.. Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b). Blood 2003;101:5021–4.10.1182/blood-2002-10-3128Search in Google Scholar PubMed
107. Dale, DC, Bolyard, AA, Marrero, T, Kelley, ML, Makaryan, V, Tran, E, et al.. Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor. Curr Opin Hematol 2019;26:16–21.10.1097/MOH.0000000000000474Search in Google Scholar PubMed PubMed Central
108. Ikon, N, Ryan, RO. Barth syndrome: connecting cardiolipin to cardiomyopathy. Lipids 2017;52:99–108.10.1007/s11745-016-4229-7Search in Google Scholar PubMed PubMed Central
109. Finsterer, J. Barth syndrome: mechanisms and management. Appl Clin Genet 2019;12:95–106.10.2147/TACG.S171481Search in Google Scholar PubMed PubMed Central
110. Baban, A, Adorisio, R, Corica, B, Rizzo, C, Calì, F, Semeraro, M, et al.. Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: a potential pitfall for the diagnosis. Am J Med Genet 2020;182:64–70.10.1002/ajmg.a.61383Search in Google Scholar PubMed
111. Vernon, HJ, Sandlers, Y, McClellan, R, Kelley, RI. Clinical laboratory studies in Barth syndrome. Mol Genet Metabol 2014;112:143–7.10.1016/j.ymgme.2014.03.007Search in Google Scholar PubMed
112. Dinauer, MC. Disorders of neutrophil function: an overview. Methods Mol Biol 2014;1124:501–15.10.1007/978-1-62703-845-4_30Search in Google Scholar PubMed
113. Keszei, M, Westerberg, LS. Congenital defects in neutrophil dynamics. J Immunol Res 2014;2014:303782.10.1155/2014/303782Search in Google Scholar PubMed PubMed Central
114. Cagdas, D, Yılmaz, M, Kandemir, N, Tezcan, İ, Etzioni, A, Sanal, Ö. A novel mutation in leukocyte adhesion deficiency type II/CDGIIc. J Clin Immunol 2014;34:1009–14.10.1007/s10875-014-0091-7Search in Google Scholar PubMed
115. Yaman, Y, Köker, SA, FY, A, Genel, F, Acıpayam, C, Oymak, Y, et al.. Late diagnosis of leukocyte adhesion deficiency type II and Bombay blood type in a child: a rare case report. Cent J Immunol 2019;44:206–9.10.5114/ceji.2019.87073Search in Google Scholar PubMed PubMed Central
116. van der Hilst, JCH, Bodar, EJ, Barron, KS, Frenkel, J, Drenth, JPH, van der Meer, JWM, et al.. Long-Term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine 2008;87:301–10.10.1097/MD.0b013e318190cfb7Search in Google Scholar PubMed
117. ter Haar, NM, Jeyaratnam, J, Lachmann, HJ, Simon, A, Brogan, PA, Doglio, M, et al.. The phenotype and genotype of mevalonate kinase deficiency: a series of 114 cases from the eurofever registry. Arthritis Rheum 2016;68:2795–805.10.1002/art.39763Search in Google Scholar PubMed
118. Tanaka, T, Yoshioka, K, Nishikomori, R, Sakai, H, Abe, J, Yamashita, Y, et al.. National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics. Mod Rheumatol 2019;29:181–7.10.1080/14397595.2018.1442639Search in Google Scholar PubMed
119. Sánchez-Manubens, J, Iglesias, E, Anton, J. Canakinumab for the treatment of hyperimmunoglobulin D syndrome. Expet Rev Clin Immunol 2019;15:215–20.10.1080/1744666X.2019.1571410Search in Google Scholar PubMed
120. Deshayes, S, Georgin-Lavialle, S, Hot, A, Durel, C-A, Hachulla, E, Rouanes, N, et al.. Efficacy of continuous interleukin 1 blockade in mevalonate kinase deficiency: a multicenter retrospective study in 13 adult patients and literature review. J Rheumatol 2018;45:425–29.10.3899/jrheum.170684Search in Google Scholar PubMed
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