Adult-Onset Myopathy in a Patient with Hypomorphic RAG2 Mutations and Combined Immune Deficiency

被引：4

作者：

Henrickson, Sarah E. ^{[1
,2
]}

Walter, Jolan E. ^{[3
,4
]}

Quinn, Colin ^{[5
]}

Kanakry, Jennifer A. ^{[6
]}

Bardakjian, Tanya ^{[5
]}

Dimitrova, Dimana ^{[6
]}

Ujhazi, Boglarka ^{[3
,4
]}

Csomos, Krisztian ^{[3
,4
]}

Bosticardo, Marita ^{[7
]}

Dobbs, Kerry ^{[7
]}

Nasrallah, MacLean ^{[8
]}

Notarangelo, Luigi D. ^{[7
]}

Holland, Steven M. ^{[7
]}

Fadugba, Olajumoke ^{[9
]}

机构：

[1] Univ Penn, Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA 19104 USA

[2] Univ Penn, Inst Immunol, Philadelphia, PA 19104 USA

[3] Univ S Florida, Div Allergy & Immunol, Morsani Coll Med, Tampa, FL 33620 USA

[4] Johns Hopkins All Childrens Hosp, St Petersburg, FL 33701 USA

[5] Univ Penn, Perelman Sch Med, Dept Neurol, Philadelphia, PA 19104 USA

[6] NCI, Expt Transplantat & Immunol Branch, NIH, Bethesda, MD 20892 USA

[7] NIAID, Lab Clin Immunol & Microbiol, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA

[8] Univ Penn, Perelman Sch Med, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA

[9] Univ Penn, Perelman Sch Med, Div Pulm Allergy & Crit Care, Philadelphia, PA 19104 USA

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2018年 / 38卷 / 06期

基金：

美国国家卫生研究院;

关键词：

SCID; RAG; hypomorphic mutations; WES; myopathy; COMMON VARIABLE IMMUNODEFICIENCY;

D O I：

10.1007/s10875-018-0538-3

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

页码：642 / 645

页数：4

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