Clinical spectrum of X-linked hyper-IgM syndrome☆,☆☆
Section snippets
Methods
The names and addresses of European physicians taking care of patients with HIM were obtained from the Registry of Primary Immunodeficiencies of the European Society for Immune Deficiency (Huddinge, Sweden). The physicians answered a detailed questionnaire, and clinical, genetic, and immunologic data were gathered and analyzed with Excel (Microsoft Corp.) and SPSS (SPSS, Inc.) software. Data on immunoglobulin serum levels, total lymphocyte count, and enumeration of CD4 + and CD8 + T cells and
Results
Ninety-eight patients were identified as having HIM. Of these, 56 (from 47 families) fulfilled the criteria for XHIM. The inclusion criteria were evidence of specific CD40L gene mutation (48 patients) and/or clear X-linked inheritance (with multiple affected males in multiple generations) in association with defective CD40L expression (8 patients). An X-linked pattern of inheritance was evident from the pedigree of 32 patients, who belonged to 23 unrelated families. The mean age at presentation
Discussion
Although originally considered a humoral form of immunodeficiency, XHIM was suspected in 1986 to be due to defective T-cell function, when Mayer et al. 17 demonstrated that B cells in XHIM could be driven to undergo isotype switch if cocultured in the presence of CD4 + T cells derived from a patient with Sézary disease. More recently, XHIM was shown to be due to mutations
References (46)
- et al.
The CD40 ligand, gp39, is defective in activated T-cells from patients with X-linked hyper-IgM syndrome
Cell
(1993) - et al.
CD40L base: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome
Immunol Today
(1996) - et al.
Mice deficient for the CD40 ligand
Immunity
(1994) - et al.
The immune responses in CD40–deficient mice: impaired immunoglobulin class switching and germinal center formation
Immunity
(1994) - et al.
A central role of CD40 ligand in the regulation of CD4 + T-cell responses
Immunology Today
(1996) - et al.
Disruption of CD40-CD40 ligand interactions results in an enhanced susceptibility to Leishmania amazonensis infection
Immunity
(1996) CD40 and its ligand in host defense
Immunity
(1996)- et al.
AIDS-related cholangitis: diagnostic features and course in 15 patients
J Hepatol
(1993) - et al.
Immunodeficiency with hyper-IgM (HIM)
Immunodeficiency Reviews
(1992) - et al.
CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome
Science
(1993)
CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM
Nature
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM
Nature
Defective expression of the CD40 ligand in X chromosome–linked immunoglobulin deficiency with normal or elevated IgM
Proc Natl Acad Sci U S A
Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper-IgM syndrome of various ancestry
Am J Hum Genet
The human T cell antigen gp39, a member of the TNF gene family, is a ligand for the CD40 receptor: expression of a soluble form of gp39 with B cell co-stimulatory activity
EMBO J
Activated human T cells express a ligand for the human B cell–associated antigen CD40, which participates in T cell–dependent acts of B lymphocytes
Eur J Immunol
A 39-kDa protein on activated helper T cells binds CD40 and transduces the signal for cognate activation of B cells
Proc Natl Acad U S A
Hypogammaglobulinemia associated with normal or increased IgM (the hyper-IgM syndrome): a case series review
Arch Dis Child
Disorders of the B-cell system
Hypogammaglobulinemie G et A avec hypergammaglobulinemie M: a propos de 12 observations
Arch Fr Pediatr
Ineffective expression of CD40 ligand on cord blood T cells may contribute to poor immunoglobulin production in the newborn
Eur J Immunol
Nonparametric estimation from incomplete observations
J Am Stat Assoc
Brief report: correction of X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation
N Engl J Med
Cited by (0)
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Reprint requests: Jacov Levy, MD, Department of Pediatrics, Soroka Medical Center, Beer Sheva 84101, Israel.
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0022-3476/97/$5.00 + 0 9/21/81351