Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait

被引：51

作者：

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

Ragupathy, Raj ^{[3
]}

Massaad, Michel J. ^{[4
,5
]}

Al-Attiyah, Raja'a ^{[3
]}

Nanda, Arti ^{[6
]}

Engelhardt, Karin R. ^{[7
,8
,9
,10
]}

Grimbacher, Bodo ^{[7
,8
,9
,10
]}

Notarangelo, Luigi ^{[4
,5
]}

Chatila, Talal ^{[4
,5
]}

Geha, Raif S. ^{[4
,5
]}

机构：

[1] Kuwait Univ, Dept Pediat, Fac Med, Safat 13110 24923, Kuwait

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

[3] Kuwait Univ, Dept Microbiol, Fac Med, Safat 13110, Kuwait

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

[5] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA

[6] Al Sabah Hosp, Asad Al Hamad Dermatol Ctr, Pediat Dermatol Unit, Kuwait, Kuwait

[7] Univ Freiburg, D-79106 Freiburg, Germany

[8] Univ Med Ctr Freiburg, CCI, Freiburg, Germany

[9] UCL, London, England

[10] Royal Free Hosp, Dept Immunol & Mol Pathol, London NW3 2QG, England

来源：

CLINICAL IMMUNOLOGY | 2012年 / 143卷 / 03期

关键词：

DOCK8; deficiency; Combined immunodeficiency; IgE; Eczema; Consanguinity; Kuwait; PRIMARY IMMUNODEFICIENCY DISORDERS; DOCK8; MUTATIONS; REGISTRY;

D O I：

10.1016/j.clim.2012.03.002

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Deficiency of dedicator of cytokinesis 8 (DOCK8) is a newly described combined primary immunodeficiency disease. It was found to account for 15% 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 characteristics of 9 Kuwaiti patients with DOCK8 deficiency and discuss differences that distinguish DOCK8 deficiency from atopic dermatitis. Clinical immunologists in areas with high incidence of consanguinity should have a high index of suspicion of DOCK8 deficiency in children with recalcitrant eczema, recurrent non-cutaneous infections and lymphopenia. (C) 2012 Elsevier Inc. All rights reserved.

引用

页码：266 / 272

页数：7

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