ATAXIA-telangiectasia with compound heterozygous ATM mutations discovered on abnormal newborn screen

被引：0
|
作者：
Lee, Ashley Sang Eun [1 ]
Abraham, Roshini S. [2 ]
Basu, Amrita [2 ]
Lederman, Howard [3 ]
Cunningham-Rundles, Charlotte [1 ]
机构：
[1] Icahn Sch Med Mt Sinai, Div Allergy & Immunol, 1425 Madison Ave, 11th Floor, New York, NY 10029 USA
[2] Nationwide Childrens Hosp, Dept Pathol & Lab Med, Columbus, OH USA
[3] Johns Hopkins Childrens Ctr, Div Allergy & Immunol, Baltimore, MD USA
来源：
CLINICAL IMMUNOLOGY | 2024年 / 265卷
关键词：
Severe combined immunodeficiency; Lymphopenia; ataxia telangiectasia; DNA double strand breaks; Gamma-H2AX; Phosphorylated ATM; Lymphocytes; TREC; RISKS;
D O I：
10.1016/j.clim.2024.110294
中图分类号：
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号：
100102 ;
摘要：
引用
收藏
页数：4
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