Congenital T Cell Deficiency in a Patient with CHARGE Syndrome

被引：13

作者：

Hoover-Fong, Julie ^{[1
]}

Savage, William J. ^{[2
]}

Lisi, Emily ^{[1
]}

Winkelstein, Jerry ^{[3
]}

Thomas, George H. ^{[4
]}

Hoefsloot, Lies H. ^{[5
]}

Loeb, David M. ^{[6
]}

机构：

[1] Johns Hopkins Univ, Dept Pediat, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USA

[2] Johns Hopkins Univ, Dept Pediat Hematol, Baltimore, MD USA

[3] Johns Hopkins Univ, Dept Pediat, Div Allergy & Immunol, Baltimore, MD 21218 USA

[4] Kennedy Krieger Inst, Dept Genet, Baltimore, MD USA

[5] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands

[6] Johns Hopkins Univ, Sidney Kimmel Comprehens Canc Ctr, Dept Oncol, Div Pediat Oncol, Baltimore, MD USA

来源：

JOURNAL OF PEDIATRICS | 2009年 / 154卷 / 01期

关键词：

IMMUNE CONSTITUTION; TRANSPLANTATION; MUTATIONS; SPECTRUM; CRITERIA; FAMILY;

D O I：

10.1016/j.jpeds.2008.07.049

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

CHARGE syndrome is an autosomal dominant condition caused by mutations in chromodomain helicase DNA-binding 7. We report a patient with molecularly confirmed CHARGE syndrome, which included a congenital T cell deficiency, who was treated with peripheral blood mononuclear cell transplantation. (J Pediatr 2009;154:140-2)

引用

页码：140 / 142

页数：3

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