F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects

被引：18

作者：

Calzoni, Enrica ^{[1
,3
]}

Platt, Craig D. ^{[4
]}

Keles, Sevgi ^{[5
]}

Kuehn, Hye Sun ^{[6
]}

Beaussant-Cohen, Sarah ^{[4
]}

Zhang, Yu ^{[1
]}

Pazmandi, Julia ^{[7
]}

Lanzi, Gaetana ^{[3
]}

Pala, Francesca ^{[1
]}

Tahiat, Azzeddine ^{[8
,9
]}

Artac, Hasibe ^{[10
]}

Heredia, Raul Jimenez ^{[7
]}

Dmytrus, Jasmin ^{[7
]}

Reisli, Ismail ^{[5
]}

Uygun, Vedat ^{[12
]}

Uygun, Dilara ^{[13
]}

Bingol, Aysen ^{[13
]}

Basaran, Erdem ^{[14
]}

Djenouhat, Kamel ^{[8
,9
]}

Benhalla, Nafissa ^{[15
]}

Bendahmane, Chafa ^{[16
]}

Emiroglu, Melike ^{[11
]}

Kirchhausen, Tomas ^{[17
,18
]}

Pasham, Mithun ^{[17
,18
]}

Jones, Jennifer ^{[4
]}

Wallace, Jacqueline G. ^{[4
]}

Zheng, Lixin ^{[2
]}

Boisson, Bertrand ^{[19
,20
,21
]}

Porta, Fulvio ^{[22
]}

Rosenzweig, Sergio D. ^{[6
]}

Su, Helen ^{[1
]}

Giliani, Silvia ^{[3
]}

Lenardo, Michael ^{[2
]}

Geha, Raif S. ^{[4
]}

Boztug, Kaan ^{[7
,23
,24
,25
,26
]}

Chou, Janet ^{[4
]}

Notarangelo, Luigi D. ^{[1
]}

机构：

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

[2] NIAID, Immunol Lab, NIH, Bldg 10, Bethesda, MD 20892 USA

[3] Univ Brescia, Dept Mol & Translat Med, A Nocivelli Inst Mol Med, Brescia, Italy

[4] Harvard Med Sch, Div Immunol, Boston Childrens Hosp, Boston, MA 02115 USA

[5] Necmettin Erbakan Univ, Div Pediat Immunol & Allergy, Meram Med Fac, Konya, Turkey

[6] NIH, Serv Immunol, Dept Lab Med, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA

[7] Ludwig Boltzmann Inst Rare & Undiagnosed Dis, Vienna, Austria

[8] Rouiba Hosp, Med Biol Lab, Algiers, Algeria

[9] Univ Algiers 1, Algiers Fac Med, Algiers, Algeria

[10] Selcuk Univ, Fac Med, Pediat Immunol & Allergy, Konya, Turkey

[11] Selcuk Univ, Fac Med, Pediat Infect Dis, Konya, Turkey

[12] Antalya Hosp, Pediat Bone Marrow Transplantat Unit, Med Pk, Antalya, Turkey

[13] Akdeniz Univ, Sch Med, Dept Immunol Allergy, Antalya, Turkey

[14] Akdeniz Univ, Sch Med, Dept Pediat Pulmonol, Antalya, Turkey

[15] Beni Messous Univ Hosp, Dept Pediat, Algiers, Algeria

[16] Meftah Hosp, Dept Pediat, Blida, Algeria

[17] Harvard Med Sch, Dept Cell Biol, Boston, MA 02115 USA

[18] Boston Childrens Hosp, Program Cellular & Mol Med, Boston, MA USA

[19] Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, 1230 York Ave, New York, NY 10021 USA

[20] Necker Hosp Sick Children, INSERM, U1163, Lab Human Genet Infect Dis,Necker Branch, Paris, France

[21] Paris Descartes Univ, Imagine Inst, Paris, France

[22] ASST Spedali Civili Brescia, Childrens Hosp, Pediat Oncohaematol & BMT Unit, Brescia, Italy

[23] Austrian Acad Sci, CeMM Res Ctr Mol Med, Vienna, Austria

[24] Med Univ Vienna, Dept Pediat & Adolescent Med, Vienna, Austria

[25] Med Univ Vienna, St Anna Childrens Hosp, Vienna, Austria

[26] Med Univ Vienna, Dept Pediat, Childrens Canc Res Inst, Vienna, Austria

来源：

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY | 2019年 / 143卷 / 06期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1016/j.jaci.2019.02.014

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：2317 / +

页数：21

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