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Clinical Reviews in Allergy & Immunology

Published in:

01-04-2014

The Hyper IgM Syndromes

Authors: Nashmia Qamar, Ramsay L. Fuleihan

Published in: Clinical Reviews in Allergy & Immunology | Issue 2/2014

Abstract

The hyper IgM syndromes are a group of rare inherited immune deficiency disorders characterized by impairment of immunoglobulin isotype switching resulting from defects in the CD40 ligand/CD40 signaling pathway. X-linked forms of hyper IgM are caused by defects in the CD40 ligand gene or NF-κB essential modulator, while autosomal recessive forms of hyper IgM are caused by defects in CD40 or downstream signaling molecules including activation-induced cytidine deaminase, uracil N glycosylase or postmeiotic segregation increased 2. The loss of interaction between CD40 and its ligand results in an impairment of T cell function, of B cell differentiation and of monocyte function while only B cell differentiation appears to be affected in defects of sinaling molecules downstream of CD40 with the exception of defects of the NF-κB complex, which mediates signaling via multiple receptor pathways. With many genetic defects in the hyper IgM syndrome identified, it is possible to diagnose patients definitively, to perform genetic screening, and to delineate the clinical manifestations of the different diseases in this syndrome. Stem cell transplantation is an available therapeutic option for defects that result in a combined immunodeficiency while antibody replacement appears sufficient for the strictly humoral immunodeficiencies.

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Title: The Hyper IgM Syndromes
Authors: Nashmia Qamar
Ramsay L. Fuleihan
Publication date: 01-04-2014
Publisher: Springer US
Published in: Clinical Reviews in Allergy & Immunology / Issue 2/2014
Print ISSN: 1080-0549
Electronic ISSN: 1559-0267
DOI: https://doi.org/10.1007/s12016-013-8378-7

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