Clinical spectrum of X-linked hyper-IgM syndrome

Clinical spectrum of X-linked hyper-IgM syndrome We report the clinical and immunologic features and outcome in 56 patients with X-linked hyper-IgM syndrome, a disorder caused by mutations in the CD40 ligand gene. Upper and lower respiratory tract infections (the latter frequently caused by Pneumocystis carinii ), chronic diarrhea, and liver involvement (both often associated with Cryptosporidium infection) were common. Many patients had chronic neutropenia associated with oral and rectal ulcers. The marked prevalence of infections caused by intracellular pathogens suggests some degree of impairment of cell-mediated immunity. Although lymphocyte counts and in vitro proliferation to mitogens were normal, a defective in vitro proliferative response to antigens was observed in some patients, and additional defects of cell-mediated immunity may be presumed on the basis of current knowledge of CD40-ligand function. All patients received regular infusions of immunoglobulins. Four patients underwent liver transplantation because of sclerosing cholangitis, which relapsed in three. Three patients underwent bone marrow transplantation. Thirteen patients (23%) died of infection and/or liver disease. X-linked hyper-IgM syndrome, once considered a clinical variant of hypogammaglobulinemia, is a severe immunodeficiency with significant cellular involvement and a high mortality rate. (J Pediatr 1997;131:47-54) http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png The Journal of Pediatrics Elsevier

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Publisher
Elsevier
Copyright
Copyright © 1997 Mosby, Inc.
ISSN
0022-3476
DOI
10.1016/S0022-3476(97)70123-9
Publisher site
See Article on Publisher Site

Abstract

We report the clinical and immunologic features and outcome in 56 patients with X-linked hyper-IgM syndrome, a disorder caused by mutations in the CD40 ligand gene. Upper and lower respiratory tract infections (the latter frequently caused by Pneumocystis carinii ), chronic diarrhea, and liver involvement (both often associated with Cryptosporidium infection) were common. Many patients had chronic neutropenia associated with oral and rectal ulcers. The marked prevalence of infections caused by intracellular pathogens suggests some degree of impairment of cell-mediated immunity. Although lymphocyte counts and in vitro proliferation to mitogens were normal, a defective in vitro proliferative response to antigens was observed in some patients, and additional defects of cell-mediated immunity may be presumed on the basis of current knowledge of CD40-ligand function. All patients received regular infusions of immunoglobulins. Four patients underwent liver transplantation because of sclerosing cholangitis, which relapsed in three. Three patients underwent bone marrow transplantation. Thirteen patients (23%) died of infection and/or liver disease. X-linked hyper-IgM syndrome, once considered a clinical variant of hypogammaglobulinemia, is a severe immunodeficiency with significant cellular involvement and a high mortality rate. (J Pediatr 1997;131:47-54)

Journal

The Journal of PediatricsElsevier

Published: Jul 1, 1997

References

  • Ineffective expression of CD40 ligand on cord blood T cells may contribute to poor immunoglobulin production in the newborn
    Brugnoni, D; Airò, P; Graf, D; Marconi, M; Lebovitz, M; Plebani, A
  • Humoral immune responses in CD40 ligand–deficient mice
    Renshaw, BR; Fanslow, WC; Armitage, RJ; Campbell, KA; Liggitt, D; Koblar, SA
  • Identification of a CD40L gene mutation and genetic counseling in a family with immunodeficiency with hyperimmunoglobulinemia M
    Kraakman, MEM; de Weers, M; Espanol, T; Schuurman, RKB; Hendriks, RW
  • CD40 ligand is a T cell growth factor
    Armitage, RJ; Tough, TW; Macduff, BM; Fanslow, WC; Spriggs, MK; Ramsdell, F
  • Induction of B cell costimulatory function by recombinant murine CD40 ligand
    Kennedy, MK; Mohler, KM; Shanebeck, KD; Baum, PR; Picha, KS; Otten-Evans, CA
  • Activated T cells induce interleukin-12 production by monocytes via CD40-CD40 ligand interaction
    Shu, U; Kiniwa, M; Wu, CY; Maliszewski, C; Vezzio, N; Hakimi, J

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