Major Histocompatibility Complex Class II Deficiency in Kuwait: Clinical Manifestations, Immunological Findings and Molecular Profile

被引：24

作者：

Al-Herz, Waleed ^{[1
,2
]}

Alsmadi, Osama ^{[3
]}

Melhem, Motasem ^{[3
]}

Recher, Mike ^{[4
,5
]}

Frugoni, Francesco ^{[4
,5
]}

Notarangelo, Luigi D. ^{[4
,5
]}

机构：

[1] Kuwait Univ, Dept Pediat, Fac Med, Kuwait 24923, Kuwait

[2] Al Sabah Hosp, Dept Pediat, Allergy & Clin Immunol Unit, Kuwait, Kuwait

[3] Dasman Diabet Inst, Dasman Genome Ctr, Kuwait, Kuwait

[4] Harvard Univ, Sch Med, Div Immunol, Boston, MA USA

[5] Harvard Univ, Childrens Hosp, Sch Med, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2013年 / 33卷 / 03期

基金：

瑞士国家科学基金会;

关键词：

MHC class II deficiency; RFXANK gene; molecular diagnosis; consanguinity; Kuwait;

D O I：

10.1007/s10875-012-9831-8

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

071005 [微生物学]; 100108 [医学免疫学];

摘要：

Major Histocompatibility Complex (MHC) class II deficiency is a combined primary immunodeficiency disease that leads to overwhelming and recurrent infections. It was found to account for 19 % of combined immune deficiency cases in the National Primary Immunodeficiency Disorders Registry in Kuwait, a country with high prevalence of consanguinity. We present the clinical, immunologic and molecular features of 11 Kuwaiti patients who presented with MHC class II deficiency between 2004 and 2011.

引用

页码：513 / 519

页数：7

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