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Article Dans Une Revue Science Immunology Année : 2018

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

1 IMAGINE - U1163 - Imagine - Institut des maladies génétiques
2 Rockefeller University [New York]
3 NIH - National Institutes of Health [Bethesda, MD, USA]
4 Garvan Institute of medical research
5 UNSW - University of New South Wales [Sydney]
6 CHU Ibn Rochd [Casablanca]
7 UH2MC - Université Hassan II [Casablanca]
8 Service d'Immuno-Hémato-Oncologie Pédiatrique
9 SBUMS - Shahid Beheshti University of Medical Sciences [Tehran]
10 Universal Scientific Education and Research Network (USERN)
11 Marmara University [Kadıköy - İstanbul]
12 Necmettin Erbakan University [Konya, Turquie]
13 Immunité Innée - Innate Immunity
14 HMS - Harvard Medical School [Boston]
15 Boston Children's Hospital
16 Centre d'infectiologie Necker-Pasteur [CHU Necker]
17 Sidra Medicine [Doha, Qatar]
18 CRI (UMR_S_1149 / ERL_8252 / U1149) - Centre de recherche sur l'Inflammation
19 Uniklinik - Universitäts Klinikum Freiburg = University Medical Center Freiburg
20 Sydney Children's hospital
21 CEREDIH - Centre de Référence Déficits Immunitaires Héréditaires
22 FAU - Friedrich-Alexander Universität Erlangen-Nürnberg = University of Erlangen-Nuremberg
23 Equipe Inserm U1163 - Genetic skin diseases : from disease mechanism to therapies
24 Service de pathologie [CHU Necker]
25 Service d'immuno-hématologie pédiatrique [CHU Necker]
26 Laboratoire de Virologie [CHU Necker]
27 UPD5 - Université Paris Descartes - Paris 5
28 Centre d'étude des Déficits Immunitaires
29 University Hospitals Leuven [Leuven]
30 KU Leuven - Catholic University of Leuven = Katholieke Universiteit Leuven
31 Hôpital Necker - Enfants Malades [AP-HP]
32 Istanbul University
33 Research Center for Immunodeficiencies [Tehran, Iran]
34 TUMS - Tehran University of Medical Sciences
35 UNSW - University of New South Wales [Canberra Campus]
36 HHMI - Howard Hughes Medical Institute [New York]
Safa Baris
Paul Gray
Damien Chaussabel
Nico Marr
Jamel El-Benna
James P Di Santo
Ayper Somer
  • Fonction : Auteur

Résumé

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 (TH17) cells, have an excess of TH2 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.

Domaines

Immunologie

Dates et versions

hal-02392068 , version 1 (03-12-2019)

Identifiants

Citer

Vivien Beziat, Juan Li, Jian-Xin Lin, Cindy Ma, Peng Li, et al.. A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. Science Immunology, 2018, 3 (24), pp.eaat4956. ⟨10.1126/sciimmunol.aat4956⟩. ⟨hal-02392068⟩
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