CD40: CD40L interactions in X-linked and non-X-linked hyper-IgM syndromes

被引:38
作者
Bhushan, A [1 ]
Covey, LR [1 ]
机构
[1] Rutgers State Univ, Dept Cell Biol & Neurosci, Piscataway, NJ 08854 USA
关键词
hyper IgM syndrome; CD40; ligand; class switch recombination; germline transcription; activation induced cytidine deaminase (AID);
D O I
10.1385/IR:24:3:311
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
Hyper-IgM (HIM) syndrome is a rare immunodeficiency characterized by low or absent IgG, IgA, and IgE with normal or elevated levels of IgM. This disorder can be acquired or familial with either X-linked or autosomal patterns of inheritance. The X-linked form of the disease is a consequence of mutations in the CD40 ligand (CD40L) gene that encodes a protein expressed primarily on activated CD4(+) T cells. The cognate interaction between CD40L on T cells and CD40 on antigen-stimulated B cells, macrophage, and dendritic cells is critical for the development of a comprehensive immune response. The non-X-linked form of HIM syndrome is heterogeneous and appears in some cases to be a consequence of mutations in the AID gene which encodes a B cell specific protein required for class switch recombination, somatic mutation, and germinal center formation. However, mutations in other unidentified genes are clearly the basis of the disease in a subset of patients. In this article, we review the essential features of the X-linked and non-X-linked forms of HIM syndrome and discuss the critical role the CD40:CD40L receptor-ligand pair plays in the pathogenesis of these immune deficiencies.
引用
收藏
页码:311 / 324
页数:14
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