Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis

被引：25

作者：

Janssen, Erin ^{[1
]}

Tsitsikov, Erdyni ^{[2
]}

Al-Herz, Waleed ^{[3
]}

Lefranc, Gerard ^{[4
,5
]}

Megarbane, Andre ^{[6
]}

Dasouki, Majed ^{[7
,8
]}

Bonilla, Francisco A. ^{[1
]}

Chatila, Talal ^{[1
]}

Schneider, Lynda ^{[1
]}

Geha, Raif S. ^{[1
]}

机构：

[1] Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA

[2] Boston Childrens Hosp, Dept Lab Med, Boston, MA 02115 USA

[3] Kuwait Univ, Dept Pediat, Kuwait, Kuwait

[4] Univ Montpellier 2, Montpellier, France

[5] CNRS Inst Human Genet, Montpellier, France

[6] St Joseph Univ, Unit Med Genet, Beirut, Lebanon

[7] Univ Kansas, Med Ctr, Dept Pediat, Kansas City, KS 66103 USA

[8] Univ Kansas, Med Ctr, Dept Internal Med, Div Genet Endocrinol & Metab, Kansas City, KS 66103 USA

来源：

CLINICAL IMMUNOLOGY | 2014年 / 150卷 / 02期

关键词：

DOCK8; Hyper-IgE; Atopic dermatitis; T cell; B cell; STEM-CELL TRANSPLANTATION; HYPER-IGE SYNDROME; CYTOKINESIS; 8; DOCK8; HEALTHY-CHILDREN; MUTATIONS; DEDICATOR; TOXICITY; SURVIVAL; SUBSETS;

D O I：

10.1016/j.clim.2013.12.006

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：

DOCK8 deficiency is a primary immunodeficiency characterized by recurrent sinopulmonary infections, dermatitis with cutaneous infections, elevated serum IgE levels, eosinophilia, and a high incidence of food allergy. Given the seriousness of DOCK8 deficiency, it is important to recognize it early and initiate appropriate therapy. Diagnosis relies on examining DOCKS protein expression and sequencing of the 48 exons in the DOCK8 gene, but these assays are not always readily available. A major problem facing clinicians is that DOCK8 deficiency shares many clinical and laboratory features with severe atopic dermatitis. Here, we have identified biomarkers routinely measured by flow cytometry on whole blood in clinical immunology laboratories that may be used in distinguishing DOCK8 deficiency from severe atopic dermatitis. The use of these biomarkers may help the clinician identify those patients who are most likely to have DOCKS mutations and would benefit from further specialized diagnostic testing. (C) 2013 Elsevier Inc. All rights reserved.

引用

页码：220 / 224

页数：5

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