Combined Immune Deficiency in a Patient with a Novel NFKB2 Mutation

被引：54

作者：

Lindsley, Andrew W. ^{[1
]}

Qian, Yaping ^{[2
]}

Valencia, C. Alexander ^{[2
]}

Shah, Kara ^{[3
]}

Zhang, Kejian ^{[2
]}

Assa'ad, Amal ^{[1
]}

机构：

[1] Cincinnati Childrens Hosp Med Ctr, Div Allergy & Immunol, Cincinnati, OH 45229 USA

[2] Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA

[3] Cincinnati Childrens Hosp Med Ctr, Div Dermatol, Cincinnati, OH 45229 USA

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2014年 / 34卷 / 08期

关键词：

NFKB2; CVID; common variable immunodeficiency; CID; combined immune deficiency; TCR signaling; memory T cells; autoimmune alopecia; TNFRSF13B; TACI; KAPPA-B; PATHWAY;

D O I：

10.1007/s10875-014-0095-3

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

NFKB2 encodes the p100/p52 protein, a critical mediator of the canonical and noncanonical NFkB signaling pathways. Here we report the comprehensive immune evaluation of a child with a novel NFKB2 mutation and provide evidence that aberrant NFKB2 signaling not only causes humoral immune deficiency, but also interferes with the TCR-mediated proliferation of T cells. These observations expand the known phenotype associated with NFKB2 mutations.

引用

页码：910 / 915

页数：6

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