A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

被引：143

作者：

Beziat, Vivien ^{[1
,2
]}

Li, Juan ^{[3
]}

Lin, Jian-Xin ^{[4
,5
]}

Ma, Cindy S. ^{[6
,7
]}

Li, Peng ^{[4
,5
]}

Bousfiha, Aziz ^{[8
]}

Pellier, Isabelle ^{[9
]}

Zoghi, Samaneh ^{[10
,11
,12
]}

Baris, Safa ^{[13
]}

Keles, Sevgi ^{[14
]}

Gray, Paul ^{[15
,16
]}

Du, Ning ^{[4
,5
]}

Wang, Yi ^{[1
,2
]}

Zerbib, Yoann ^{[1
,2
]}

Levy, Romain ^{[1
,2
]}

Leclercq, Thibaut ^{[1
,2
]}

About, Fredegonde ^{[1
,2
]}

Lim, Ai Ing ^{[17
,18
]}

Rao, Geetha ^{[6
]}

Payne, Kathryn ^{[6
]}

Pelham, Simon J. ^{[6
,7
]}

Avery, Danielle T. ^{[6
]}

Deenick, Elissa K. ^{[6
,7
]}

Pillay, Bethany ^{[6
,7
]}

Chou, Janet ^{[19
,20
]}

Guery, Romain ^{[1
,2
,21
]}

Belkadi, Aziz ^{[1
,2
]}

Guerin, Antoine ^{[1
,2
]}

Migaud, Melanie ^{[1
,2
]}

Rattina, Vimel ^{[1
,2
]}

Ailal, Fatima ^{[8
]}

Benhsaien, Ibtihal ^{[8
]}

Bouaziz, Matthieu ^{[1
,2
]}

Habib, Tanwir ^{[22
]}

Chaussabel, Damien ^{[22
]}

Marr, Nico ^{[22
]}

El-Benna, Jamel ^{[23
]}

Grimbacher, Bodo ^{[24
]}

Wargon, Orli ^{[25
]}

Bustamante, Jacinta ^{[1
,2
,3
,26
]}

Boisson, Bertrand ^{[1
,2
,3
]}

Mueller-Fleckenstein, Ingrid ^{[27
]}

Fleckenstein, Bernhard ^{[27
]}

Chandesris, Marie-Olivia ^{[28
,29
]}

Titeux, Matthias ^{[2
,30
]}

Fraitag, Sylvie ^{[31
]}

Alyanakian, Marie-Alexandra ^{[32
]}

Leruez-Ville, Marianne ^{[33
,34
]}

Picard, Capucine ^{[2
,26
,34
,35
]}

Meyts, Isabelle ^{[36
,37
]}

机构：

[1] INSERM, Lab Human Genet Infect Dis, Necker Branch, U1163, F-75015 Paris, France

[2] Paris Descartes Univ, Imagine Inst, F-75015 Paris, France

[3] Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, New York, NY 10065 USA

[4] NHLBI, Lab Mol Immunol, NIH, Bethesda, MD 20892 USA

[5] NHLBI, Immunol Ctr, NIH, Bethesda, MD 20892 USA

[6] Garvan Inst Med Res, Immunol Div, Sydney, NSW 2010, Australia

[7] Univ New South Wales, St Vincents Clin Sch, Sydney, NSW 2052, Australia

[8] King Hassan II Univ, Clin Immunol Unit, Casablanca Childrens Hosp, Ibn Rochd Med Sch, Casablanca, Morocco

[9] Univ Hosp Angers, Pediat Hematooncol Unit, F-49933 Angers, France

[10] Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Childrens Med Ctr, Tehran 1417613151, Iran

[11] USERN, NIIMA, Tehran 1419733151, Iran

[12] Univ Tehran Med Sci, Dept Immunol, Sch Med, Tehran, Iran

[13] Marmara Univ, Sch Med, Dept Pediat, Div Allergy & Immunol, TR-34899 Istanbul, Turkey

[14] Necmettin Erbakan Univ, Meram Med Fac, Div Pediat Allergy & Immunol, TR-42060 Konya, Turkey

[15] Sydney Childrens Hosp, Dept Immunol & Infect Dis, Randwick, NSW 2031, Australia

[16] Univ New South Wales, Sch Womens & Childrens Hlth, Sydney, NSW 2031, Australia

[17] Inst Pasteur, Innate Immun Unit, F-75015 Paris, France

[18] INSERM, U1223, F-75015 Paris, France

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

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

[21] Necker Hosp Sick Children, AP HP, Unit Trop & Infect Dis, F-75015 Paris, France

[22] Sidra Med, Doha, Qatar

[23] Paris Diderot Univ, INSERM U1149, CNRS ERL8252,Xavier Med Sch, Ctr Res Inflammat,Labex Inflamex,Fac Med, F-75018 Paris, France

[24] Univ Freiburg, CCI, Med Ctr, Fac Med, D-79106 Freiburg, Germany

[25] Sydney Childrens Hosp, Dept Paediat Dermatol, High St, Randwick, NSW 2031, Australia

[26] Necker Hosp Sick Children, AP HP, Study Ctr Immunodeficiency, F-75015 Paris, France

[27] Univ Erlangen Nurnberg, Inst Clin & Mol Virol, D-91054 Erlangen, Germany

[28] Necker Hosp Sick Children, AP HP, Dept Hematol, F-75015 Paris, France

[29] Necker Hosp Sick Children, AP HP, Referral Ctr Immunodeficiency, F-75015 Paris, France

[30] INSERM, Lab Genet Skin Dis Dis Mech Therapies, U1163, F-75015 Paris, France

[31] Necker Hosp Sick Children, AP HP, Dept Pathol, F-75015 Paris, France

[32] Necker Hosp Sick Children, AP HP, Immunol Lab, F-75015 Paris, France

[33] Necker Hosp Sick Children, AP HP, Virol Lab, F-75015 Paris, France

[34] Paris Descartes Univ, EA 73 28, F-75015 Paris, France

[35] Necker Hosp Sick Children, AP HP, Pediat Hematol Immunol Unit, F-75015 Paris, France

[36] Univ Hosp Leuven, Dept Immunol & Microbiol, Childhood Immunol, Dept Pediat, B-3000 Leuven, Belgium

[37] Katholieke Univ Leuven, B-3000 Leuven, Belgium

[38] Necker Hosp Sick Children, AP HP, Dept Genet, F-75015 Paris, France

[39] Istanbul Univ, Istanbul Med Fac, Div Infect Dis & Immunol, TR-34452 Istanbul, Turkey

[40] Howard Hughes Med Inst, New York, NY 10065 USA

来源：

SCIENCE IMMUNOLOGY | 2018年 / 3卷 / 24期

基金：

英国医学研究理事会;

关键词：

OF-FUNCTION MUTATIONS; SIGNAL TRANSDUCER; DIFFERENTIAL EXPRESSION; CELL-DIFFERENTIATION; PRECISION MEDICINE; CLINICAL-FEATURES; IL-21; RECEPTOR; READ ALIGNMENT; INBORN-ERRORS; T-CELLS;

D O I：

10.1126/sciimmunol.aat4956

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Heterozygosity for human signal transducer and activator of transcription 3 (STAT3) dominant-negative (DN) mutations underlies an autosomal dominant form of hyper-immunoglobulin E syndrome (HIES). We describe patients with an autosomal recessive form of HIES due to loss-of-function mutations of a previously uncharacterized gene, ZNF341. ZNF341 is a transcription factor that resides in the nucleus, where it binds a specific DNA motif present in various genes, including the STAT3 promoter. The patients' cells have low basal levels of STAT3 mRNA and protein. The autoinduction of STAT3 production, activation, and function by STAT3-activating cytokines is strongly impaired. Like patients with STAT3 DN mutations, ZNF341-deficient patients lack T helper 17 (T(H)17) cells, have an excess of T(H)2 cells, and have low memory B cells due to the tight dependence of STAT3 activity on ZNF341 in lymphocytes. Their milder extra-hematopoietic manifestations and stronger inflammatory responses reflect the lower ZNF341 dependence of STAT3 activity in other cell types. Human ZNF341 is essential for the STAT3 transcription-dependent autoinduction and sustained activity of STAT3.

引用

页数：18

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