A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome

被引：38

作者：

Chou, Janet ^{[1
,2
]}

Hanna-Wakim, Rima ^{[3
]}

Tirosh, Irit ^{[1
,2
]}

Kane, Jennifer ^{[1
,2
]}

Fraulino, David ^{[1
,2
]}

Lee, Yu Nee ^{[1
,2
]}

Ghanem, Soha ^{[3
]}

Mahfouz, Iman ^{[3
]}

Megarbane, Andre ^{[4
]}

Lefranc, Gerard ^{[5
,6
]}

Inati, Adlette ^{[7
]}

Dbaibo, Ghassan ^{[3
]}

Giliani, Silvia ^{[8
]}

Notarangelo, Luigi D. ^{[1
,2
]}

Geha, Raif S. ^{[1
,2
]}

Massaad, Michel J. ^{[1
,2
]}

机构：

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

[2] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA

[3] Amer Univ Beirut, Med Ctr, Dept Pediat & Adolescent Med, Beirut, Lebanon

[4] Univ St Joseph, Unite Genet Med, Beirut, Lebanon

[5] CNRS, Inst Genet Humaine, Montpellier, France

[6] Univ Montpellier 2, Montpellier, France

[7] Rafik Hariri Univ Hosp, Childrens Ctr Canc & Blood Dis, Div Pediat Hematol & Oncol, Beirut, Lebanon

[8] Univ Brescia, Dept Pediat, Angelo Nocivelli Inst Mol Med, Brescia, Italy

来源：

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY | 2012年 / 130卷 / 06期

关键词：

RAG MUTATIONS; DISEASE;

D O I：

10.1016/j.jaci.2012.06.012

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

[No abstract available]

引用

页码：1414 / 1416

页数：4

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