Skip to main content

Advertisement

Log in

X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update

  • Published:
Immunologic Research Aims and scope Submit manuscript

Abstract

X-linked hypogammaglobulinemia and isolated growth hormone deficiency (XLH–GHD, OMIM # 307200) is a primary immunodeficiency disorder characterized by pan-hypogammaglobulinemia and isolated growth hormone deficiency. The disease, which is only known to occur in a single family, shares many features with X-linked agammaglobulinemia (XLA, OMIM # 300300). The current review summarizes the clinical, laboratory and genetic features of the disease as they have unfolded over the past quarter century since its description.

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

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5
Fig. 6

Similar content being viewed by others

References

  1. Fleisher TA, White RM, Broder S, Nissley SP, Blaese RM, Mulvihill JJ, Olive G, Waldmann TA. X-linked hypogammaglobulinemia and isolated growth hormone deficiency. N Engl J Med 1980;302:1429–34.

    Article  PubMed  CAS  Google Scholar 

  2. Conley ME, Burks AW, Herrod HG, Puck JM. Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency. J Pediatr 1991;119:392–7.

    Article  PubMed  CAS  Google Scholar 

  3. Duriez B, Duquesnoy P, Dastot F, Bougneres P, Amselem S, Goossens M. An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. FEBS Lett 1994;346:165–70.

    Article  PubMed  CAS  Google Scholar 

  4. Monafo V, Maghnie M, Terracciano L, Valtorta A, Massa M, Severi F. X-linked agammaglobulinemia and isolated growth hormone deficiency. Acta Paediatr Scand 1991;80:563–6.

    PubMed  CAS  Google Scholar 

  5. Vetrie D, Vorechovsky I, Sideras P, Holland J, Davies A, Flinter F, Hammarstrom L, Kinnon C, Levinsky R, Bobrow M, et al. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature 1993;361:226–33.

    Article  PubMed  CAS  Google Scholar 

  6. Wagner DK, Marti GE, Jaffe ES, Straus SE, Nelson DL, Fleisher TA. Lymphocyte analysis in a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency after development of echovirus dermatomyositis and meningoencephalitis. Int Arch Allergy Appl Immunol 1989;89:143–8.

    PubMed  CAS  Google Scholar 

  7. Wilfert CM, Buckley RH, Mohanakumar T, Griffith JF, Katz SL, Whisnant JK, Eggleston PA, Moore M, Treadwell E, Oxman MN, Rosen FS. Persistent and fatal central-nervous-system ECHOvirus infections in patients with agammaglobulinemia. N Engl J Med 1977;296:1485–9.

    Article  PubMed  CAS  Google Scholar 

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

    CAS  Google Scholar 

  9. Kovach SJ, Fischer AC, Katzman PJ, Salloum RM, Ettinghausen SE, Madeb R, Koniaris LG. Inflammatory myofibroblastic tumors. J Surg Oncol 2006;94:385–91.

    Article  PubMed  Google Scholar 

  10. Imanguli MM, et al. J Oral Maxillofac Surg in press accepted for publication, 2006.

  11. Lavilla P, Gil A, Rodriguez MC, Dupla ML, Pintado V, Fontan G. X-linked agammaglobulinemia and gastric adenocarcinoma. Cancer 1993;72:1528–31.

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  Google Scholar 

  13. Kerstens PJ, Endtz HP, Meis JF, Oyen WJ, Koopman RJ, van den Broek PJ, van der Meer JW. Erysipelas-like skin lesions associated with Campylobacter jejuni septicemia in patients with hypogammaglobulinemia. Eur J Clin Microbiol Infect Dis 1992;11:842–7.

    Article  PubMed  CAS  Google Scholar 

  14. Chusid MJ, Coleman CM, Dunne WM. Chronic asymptomatic Campylobacter bacteremia in a boy with X-linked hypogammaglobulinemia. Pediatr Infect Dis J 1987;6:943–4.

    Article  PubMed  CAS  Google Scholar 

  15. Stewart DM, Tian L, Notarangelo LD, Nelson DL. Update on X-linked hypogammaglobulinemia with isolated growth hormone deficiency. Curr Opin Allergy Clin Immunol 2005;5:510–2.

    Article  PubMed  CAS  Google Scholar 

  16. Stewart DM, Notarangelo LD, Kurman CC, Staudt LM, Nelson DL. Molecular genetic analysis of X-linked hypogammaglobulinemia and isolated growth hormone deficiency. J Immunol 1995;155:2770–4.

    PubMed  CAS  Google Scholar 

  17. Notarangelo LD, Wagner DK, Schwieterman WD, Camerino G, Fleisher TA, Nelson DL. Restriction fragment polymorphism analysis of patients with X-linked agammaglobulinemia and isolated growth hormone deficiency. In: Albertini A, Paoletti R, Reisfeld RA, editors. Molecular probes: technology and medical applications. New York: Raven Press; 1989. p. 143–8.

    Google Scholar 

  18. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996;380:152–4.

    Article  PubMed  CAS  Google Scholar 

  19. Packer BR, Yeager M, Staats B, Welch R, Crenshaw A, Kiley M, Eckert A, Beerman M, Miller E, Bergen A, Rothman N, Strausberg R, Chanock SJ. A public resource for sequence validation and assay development for genetic variation in candidate genes. Nucleic Acids Res 2004;32:D528–32.

    Article  PubMed  CAS  Google Scholar 

  20. Pruitt KD, Maglott DR. RefSeq and LocusLink: NCBI gene-centered resources. Nucleic Acids Res 2001;29:137–40.

    Article  PubMed  CAS  Google Scholar 

  21. Watanabe S, Take H, Takeda K, Yu ZX, Iwata N, Kajigaya S. Characterization of the CIN85 adaptor protein and identification of components involved in CIN85 complexes. Biochem Biophys Res Commun 2000;278:167–74.

    Article  PubMed  CAS  Google Scholar 

  22. Miyazaki Y, Sun X, Uchida H, Zhang J, Nimer S. MEF, a novel transcription factor with an Elf-1 like DNA binding domain but distinct transcriptional activating properties. Oncogene 1996;13:1721–9.

    PubMed  CAS  Google Scholar 

  23. Sitz KV, Burks AW, Williams LW, Kemp SF, Steele RW. Confirmation of X-linked hypogammaglobulinemia with isolated growth hormone deficiency as a disease entity. J Pediatr 1990;116:292–4.

    Article  PubMed  CAS  Google Scholar 

  24. Abo K, Nishio H, Lee MJ, Tsuzuki D, Takahashi T, Yoshida S, Nakajima T, Matsuo M, Sumino K. A novel single basepair insertion in exon 6 of the Bruton’s tyrosine kinase (Btk) gene from a Japanese X-linked agammaglobulinemia patient with growth hormone insufficiency. Hum Mutat 1998;11:336.

    PubMed  CAS  Google Scholar 

  25. Buzi F, Notarangelo LD, Plebani A, Duse M, Parolini O, Monteleone M, Ugazio AG. X-linked agammaglobulinemia, growth hormone deficiency and delay of growth and puberty. Acta Paediatr 1994;83:99–102.

    PubMed  CAS  Google Scholar 

  26. Lacorazza HD, Miyazaki Y, Di Cristofano A, Deblasio A, Hedvat C, Zhang J, Cordon-Cardo C, Mao S, Pandolfi PP, Nimer SD. The ETS protein MEF plays a critical role in perforin gene expression and the development of natural killer and NK-T cells. Immunity 2002;17:437–49.

    Article  PubMed  CAS  Google Scholar 

  27. Seki Y, Suico MA, Uto A, Hisatsune A, Shuto T, Isohama Y, Kai H. The ETS transcription factor MEF is a candidate tumor suppressor gene on the X chromosome. Cancer Res 2002;62:6579–86.

    PubMed  CAS  Google Scholar 

  28. Bennani-Baiti IM, Cooke NE, Liebhaber SA. Physical linkage of the human growth hormone gene cluster and the CD79b (Ig beta/B29) gene. Genomics 1998;48:258–64.

    Article  PubMed  CAS  Google Scholar 

  29. Su Y, Liebhaber SA, Cooke NE. The human growth hormone gene cluster locus control region supports position-independent pituitary- and placenta-specific expression in the transgenic mouse. J Biol Chem 2000;275:7902–9.

    Article  PubMed  CAS  Google Scholar 

  30. Gong S, Nussenzweig MC. Regulation of an early developmental checkpoint in the B cell pathway by Ig beta. Science 1996;272:411–4.

    Article  PubMed  CAS  Google Scholar 

  31. Kouro T, Nagata K, Takaki S, Nisitani S, Hirano M, Wahl MI, Witte ON, Karasuyama H, Takatsu K. Bruton’s tyrosine kinase is required for signaling the CD79b-mediated pro-B to pre-B cell transition. Int Immunol 2001;13:485–93.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to David L. Nelson.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Stewart, D.M., Tian, L., Notarangelo, L.D. et al. X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update. Immunol Res 38, 391–399 (2007). https://doi.org/10.1007/s12026-007-0052-9

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12026-007-0052-9

Keywords

Navigation