Tetratricopeptide Repeat Domain 7A (TTC7A) Mutation in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency

被引：30

作者：

Agarwal, Niti Sardana ^{[1
]}

Northrop, Lesley ^{[2
]}

Anyane-Yeboa, Kwame ^{[3
]}

Aggarwal, Vimla S. ^{[2
]}

Nagy, Peter L. ^{[1
]}

Demirdag, Yesim Yilmaz ^{[1
]}

机构：

[1] Columbia Univ, Dept Pediat, Med Ctr, Div Allergy & Immunol, New York, NY 10027 USA

[2] Columbia Univ, Med Ctr, Dept Pathol, New York, NY USA

[3] Columbia Univ, Med Ctr, Dept Pediat, Div Genet, New York, NY USA

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2014年 / 34卷 / 06期

关键词：

Multiple intestinal atresia; combined immunodeficiency; TTC7Amutation; intestinal atresia;

D O I：

10.1007/s10875-014-0067-7

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

In the past year, two centers reported autosomal recessive mutations in tetratricopeptide repeat domain 7A (TTC7A) gene in patients with multiple intestinal atresia and immunodeficiency. Here, we present clinical progress of an infant with multiple intestinal atresia and combined immunodeficiency who carries novel compound heterozygote mutations in TTC7A gene.

引用

页码：607 / 610

页数：4

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