Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome

被引：71
作者：
Zhang, Qian [1 ]
Davis, Jeremiah C. [2 ]
Dove, Christopher G. [1 ]
Su, Helen C. [1 ]
机构：
[1] NIAID, Host Def Lab, NIH, Bethesda, MD 20892 USA
[2] Univ Washington, Seattle Childrens Hosp, Sch Med, Dept Pediat, Seattle, WA 98195 USA
来源：
DISEASE MARKERS | 2010年 / 29卷 / 3-4期
基金：
美国国家卫生研究院;
关键词：
DOCK8; DIDS; combined immunodeficiency; hyper-IgE syndrome; atopic dermatitis; cutaneous viral infections; lymphopenia; COPY NUMBER POLYMORPHISM; ATOPIC-DERMATITIS; HERPES-SIMPLEX; T-CELL; RHO-GTPASES; HOMOZYGOUS DELETIONS; RAC ACTIVATOR; MUTATIONS; EXPRESSION; SUSCEPTIBILITY;
D O I：
10.3233/DMA-2010-0737
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
DOCK8 immunodeficiency syndrome (DIDS) is a combined immunodeficiency characterized by recurrent viral infections, severe atopy, and early onset malignancy. Genetic studies revealed large, unique deletions in patients from different families and ethnic backgrounds. Clinical markers of DIDS include atopic dermatitis, allergies, cutaneous viral infections, recurrent respiratory tract infections, and malignancy. Immune assessments showed T cell lymphopenia, hyper-IgE, hypo-IgM, and eosinophilia. The impaired lymphocyte functions in DIDS patients appear central for disease pathogenesis.
引用
收藏
页码：131 / 139
页数：9
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