Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells

被引：363

作者：

de Beaucoudrey, Ludovic ^{[1
,2
]}

Puel, Anne ^{[1
,2
]}

Filipe-Santos, Orchidee ^{[1
,2
]}

Cobat, Aurelie ^{[1
,2
]}

Ghandil, Pegah ^{[1
,2
]}

Chrabieh, Maya ^{[1
,2
]}

Feinberg, Jacqueline ^{[1
,2
]}

von Bernuth, Horst ^{[1
,2
]}

Samarina, Arina ^{[1
,2
]}

Janniere, Lucile ^{[1
,2
]}

Fieschi, Claire ^{[3
]}

Stephan, Jean-Louis ^{[4
]}

Boileau, Catherine ^{[5
]}

Lyonnet, Stanislas ^{[2
,6
,7
]}

Jondeau, Guillaume ^{[11
,12
]}

Cormier-Daire, Valerie ^{[2
]}

Le Merrer, Martine ^{[2
]}

Hoarau, Cyrille ^{[13
,14
]}

Lebranchu, Yvon ^{[13
,14
]}

Lortholary, Olivier ^{[8
]}

Chandesris, Marie-Olivia ^{[8
]}

Tron, Francois ^{[15
,16
]}

Gambineri, Eleonora ^{[17
]}

Bianchi, Lucia ^{[17
]}

Rodriguez-Gallego, Carlos ^{[18
]}

Zitnik, Simona E. ^{[19
]}

Vasconcelos, Julia ^{[20
]}

Guedes, Margarida ^{[21
]}

Vitor, Artur Bonito ^{[22
]}

Marodi, Laszlo ^{[23
]}

Chapel, Helen ^{[24
]}

Reid, Brenda ^{[25
]}

Roifman, Chaim ^{[25
]}

Nadal, David ^{[26
]}

Reichenbach, Janine ^{[27
]}

Caragol, Isabel ^{[28
]}

Garty, Ben-Zion ^{[29
]}

Dogu, Figen ^{[30
]}

Camcioglu, Yildiz ^{[31
,32
]}

Gulle, Sanyie ^{[33
]}

Sanal, Ozden ^{[34
]}

Fischer, Alain ^{[2
,9
,35
]}

Abel, Laurent ^{[1
,2
]}

Stockinger, Birgitta ^{[36
]}

Picard, Capucine ^{[1
,2
,10
]}

Casanova, Jean-Laurent ^{[1
,2
,9
]}

机构：

[1] INSERM, Inst Natl Sante & Rech Med, U550, Lab Human Genet Infect Dis, F-75015 Paris, France

[2] Univ Paris 05, Necker Med Sch, F-75015 Paris, France

[3] AP HP, St Louis Hosp, Immunopathol Unit, F-75010 Paris, France

[4] St Etienne Univ Hosp, Dept Pediat, F-42100 St Etienne, France

[5] Univ Versailles SQY, AP HP, Ambroise Pare Hosp, Mol Genet Lab, F-92100 Boulogne, France

[6] INSERM, Dept Genet, F-75015 Paris, France

[7] INSERM, U781, F-75015 Paris, France

[8] Necker Pasteur Infectiol Ctr, Dept Infect Dis & Trop Med, F-75015 Paris, France

[9] Pediat Hematol Immunol Unit, F-75015 Paris, France

[10] AP HP, Necker Hosp, Study Ctr Primary Immunodeficiencies, F-75015 Paris, France

[11] AP HP, Bichat Hosp, Marfan Multidisciplinary Outpatient Clin, F-75018 Paris, France

[12] Paris Diderot Univ, Bichat Med Sch, F-75018 Paris, France

[13] Univ Tours, Tours Med Sch, Unite Format Rech Med, F-37000 Tours, France

[14] Tours Univ Hosp, Allergy Immunol Unit, F-37000 Tours, France

[15] Inst Fed Rech 23, INSERM, U905, F-76100 Rouen, France

[16] Rouen Univ Hosp, Inst Biomed Res, Med & Pharmaceut Sch, F-76100 Rouen, France

[17] Univ Florence, Dept Pediat, I-50132 Florence, Italy

[18] Hosp Univ Gran Canaria Dr Negrin, Dept Immunol, Las Palmas Gran Canaria 35010, Spain

[19] Univ Childrens Hosp, Ljubljana 1000, Slovenia

[20] Gen Hosp San Antonio, Dept Immunol, P-4099 Oporto, Portugal

[21] Gen Hosp San Antonio, Dept Pediat, P-4099 Oporto, Portugal

[22] Hosp Sao Joao, Dept Pediat, P-4200 Oporto, Portugal

[23] Univ Debrecen, Med & Hlth Sci Ctr, Dept Infect & Pediat Immunol, H-4032 Debrecen, Hungary

[24] Univ Oxford, Nuffield Dept Med, Dept Immunol, Oxford OX3 9DU, England

[25] Univ Toronto, Hosp Sick Children, Dept Pediat, Div Immunol & Allergy, Toronto, ON M5G 1X8, Canada

[26] Univ Childrens Hosp Zurich, Dept Infect Dis, CH-8032 Zurich, Switzerland

[27] Univ Childrens Hosp Zurich, Dept Immunol, CH-8032 Zurich, Switzerland

[28] Vall Hebron Univ Hosp, Immunol Unit, Barcelona 08035, Spain

[29] Schneider Childrens Med Ctr, Dept Pediat, IL-49202 Petah Tiqwa, Israel

[30] Ankara Univ, Sch Med, Dept Pediat Immunol & Allergy, TR-06100 Ankara, Turkey

[31] Istanbul Univ, Cerrahpasa Med Sch, Dept Pediat, TR-34303 Istanbul, Turkey

[32] Istanbul Univ, Cerrahpasa Med Sch, Div Allergy, TR-34303 Istanbul, Turkey

[33] Dr Dehcet Uz Childrens Res & Traning Hosp, Dept Pediat, TR-35220 Izmir, Turkey

[34] Hacettepe Univ, Childrens Hosp, Div Immunol, TR-06100 Ankara, Turkey

[35] INSERM, U768, F-75015 Paris, France

[36] Natl Inst Med Res, MRC, Div Mol Immunol, London NW7 1AA, England

来源：

JOURNAL OF EXPERIMENTAL MEDICINE | 2008年 / 205卷 / 07期

关键词：

D O I：

10.1084/jem.20080321

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

The cytokines controlling the development of human interleukin (IL) 17-producing T helper cells in vitro have been difficult to identify. We addressed the question of the development of human IL-17-producing T helper cells in vivo by quantifying the production and secretion of IL-17 by fresh T cells ex vivo, and by T cell blasts expanded in vitro from patients with particular genetic traits affecting transforming growth factor (TGF)beta, IL-1, IL-6, or IL-23 responses. Activating mutations in TGFB1, TGFBR1, and TGFBR2 (Camurati-Engelmann disease and Marfan-like syndromes) and loss-of-function mutations in IRAK4 and MYD88 (Mendelian predisposition to pyogenic bacterial infections) had no detectable impact. In contrast, dominant-negative mutations in STAT3 (autosomal-dominant hyperimmunoglobulin E syndrome) and, to a lesser extent, null mutations in IL12B and IL12RB1 (Mendelian susceptibility to mycobacterial diseases) impaired the development of IL-17-producing T cells. These data suggest that IL-12R beta 1- and STAT-3-dependent signals play a key role in the differentiation and/or expansion of human IL-17-producing T cell populations in vivo.

引用

页码：1543 / 1550

页数：8

共 40 条

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