Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

被引：219

作者：

Bogaert, Delfien J. A. ^{[1
,2
,3
,4
,5
]}

Dullaers, Melissa ^{[1
,5
,6
]}

Lambrecht, Bart N. ^{[5
,6
]}

Vermaelen, Karim Y. ^{[1
,6
,7
]}

De Baere, Elfride ^{[3
,4
]}

Haerynck, Filomeen ^{[1
,2
]}

机构：

[1] Ghent Univ Hosp, Dept Pulm Med, Clin Immunol Res Lab, Ghent, Belgium

[2] Ghent Univ Hosp, Dept Pediat Immunol & Pulmonol, Ctr Primary Immunodeficiency, Jeffrey Modell Diag & Res Ctr, Ghent, Belgium

[3] Univ Ghent, Ctr Med Genet, Ghent, Belgium

[4] Ghent Univ Hosp, Ghent, Belgium

[5] VIB Inflammat Res Ctr, Immunoregulat Lab, Ghent, Belgium

[6] Univ Ghent, Dept Internal Med, Ghent, Belgium

[7] Ghent Univ Hosp, Dept Pulm Med, Tumor Immunol Lab, Ghent, Belgium

来源：

JOURNAL OF MEDICAL GENETICS | 2016年 / 53卷 / 09期

关键词：

Common Variable Immunodeficiency; Hypogammaglobulinemia; Genetics; Monogenic; Complex inheritance; LOSS-OF-FUNCTION; ANTIBODY-DEFICIENCY SYNDROME; INFLAMMATORY-BOWEL-DISEASE; FACTOR-RECEPTOR DEFICIENCY; B-CELL DEFICIENCY; TNFRSF13C BAFF-R; IMMUNE DYSREGULATION; FUNCTION MUTATIONS; LYMPHOPROLIFERATIVE SYNDROME; GERMLINE MUTATIONS;

D O I：

10.1136/jmedgenet-2015-103690

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

Common variable immunodeficiency (CVID) is a primary antibody deficiency characterised by hypogammaglobulinaemia, impaired production of specific antibodies after immunisation and increased susceptibility to infections. CVID shows a considerable phenotypical and genetic heterogeneity. In contrast to many other primary immunodeficiencies, monogenic forms count for only 2-10% of patients with CVID. Genes that have been implicated in monogenic CVID include ICOS, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF12 (TWEAK), CD19, CD81, CR2 (CD21), MS4A1 (CD20), TNFRSF7 (CD27), IL21, IL21R, LRBA, CTLA4, PRKCD, PLCG2, NFKB1, NFKB2, PIK3CD, PIK3R1, VAV1, RAC2, BLK, IKZF1 (IKAROS) and IRF2BP2. With the increasing number of disease genes identified in CVID, it has become clear that CVID is an umbrella diagnosis and that many of these genetic defects cause distinct disease entities. Moreover, there is accumulating evidence that at least a subgroup of patients with CVID has a complex rather than a monogenic inheritance. This review aims to discuss current knowledge regarding the molecular genetic basis of CVID with an emphasis on the relationship with the clinical and immunological phenotype.

引用

页码：575 / 590

页数：16

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