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

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dc.contributor.authorBeziat, Vivien
dc.contributor.authorLi, Juan
dc.contributor.authorLin, Jian-Xin
dc.contributor.authorMa, Cindy S.
dc.contributor.authorLi, Peng
dc.contributor.authorBousfiha, Aziz
dc.contributor.authorPellier, Isabelle
dc.date.accessioned2024-02-23T14:26:09Z
dc.date.available2024-02-23T14:26:09Z
dc.date.issued2018
dc.departmentNEÜen_US
dc.description.abstractHeterozygosity 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.en_US
dc.description.sponsorshipINSERM; Paris Descartes University; Laboratoire d'Excellence Integrative Biology of Emerging Infectious Diseases [ANR-10-LABX-62-IBEID]; Jeffrey Modell Foundation Translational Research Program; French National Research Agency (ANR) [GENCMCD-ANR-11-BSV3-005-01, HGDIFD-ANR-14-CE15-0006-01, NKIR-ANR-13-PDOC-0025-01, EURO-CMC-ANR-14-RARE-0005-02]; Investissement d'avenir program [ANR-10-IAHU-01]; National Institute of Allergy and Infectious Diseases of the NIH [U01AI109697, R01AI127564, 5R01AI065617]; Rockefeller University; Howard Hughes Medical Institute; St. Giles Foundation; Institut Pasteur; FP7 [305578, 317057]; ANR [NKIR-ANR-13-PDOC-0025-01]; INSERM Ph.D. program (Poste d'Accueil INSERM); Fulbright grant (Franco-American commission); Philippe Foundation; French National Agency for Research on AIDS and Viral Hepatitis (ANRS) [13318]; Fondation pour la Recherche Medicale (FRM) [FDM20140630671]; IFNGPHOX grant from ANR [ANR13-ISV3-0001-01]; BMBF (German Federal Ministry of Education and Research) [01E01303, 01ZX1306F]; klinische onderzoeks-en opleidingsraad (clinical research council) grant from UZ Leuven; klinisch onderzoeksfonds (clinical research fund) grant from KU Leuven; International Mobility Grant from Fonds voor Wetenschappelijk Onderzoek (fund for scientific research) Vlaanderen; National Health and Medical Research Council of Australia; Office of Health and Medical Research of the NSW Government; Jeffrey Modell Foundation; John Cook Brown Foundation; European Union's Seventh Framework Program [317057]; Scientific and Technological Research Council of Turkey [1059B191300622]; Division of Intramural Research, National Heart, Lung, and Blood Institute, NIH; AP-HP interface contracten_US
dc.description.sponsorshipThis work was supported by grants from INSERM, Paris Descartes University, Laboratoire d'Excellence Integrative Biology of Emerging Infectious Diseases (ANR-10-LABX-62-IBEID), the Jeffrey Modell Foundation Translational Research Program, the French National Research Agency (ANR; grant nos. GENCMCD-ANR-11-BSV3-005-01, HGDIFD-ANR-14-CE15-0006-01, NKIR-ANR-13-PDOC-0025-01, and EURO-CMC-ANR-14-RARE-0005-02), and grants awarded under the Investissement d'avenir program (grant no. ANR-10-IAHU-01), the National Institute of Allergy and Infectious Diseases of the NIH (grant nos. U01AI109697 and R01AI127564), the Rockefeller University, the Howard Hughes Medical Institute, the St. Giles Foundation, the Institut Pasteur, and FP7, under grant agreements 305578 (PathCO) and 317057 (HOMIN). We thank the Centre de Recherche Translationnelle (Institut Pasteur) for technical assistance. V.B. is supported by the ANR (grant no. NKIR-ANR-13-PDOC-0025-01). R.L. is supported by the INSERM Ph.D. program (Poste d'Accueil INSERM), a Fulbright grant (Franco-American commission), and a Philippe Foundation scholarship. Y.Z. received the medaille d'or du Centre Hospitalier Universitaire d'Amiens. Y.W. is supported by the French National Agency for Research on AIDS and Viral Hepatitis (ANRS; grant no. 13318). F. About holds a fellowship from Fondation pour la Recherche Medicale (FRM; grant no. FDM20140630671). A.G. is supported by an IFNGPHOX grant (no. ANR13-ISV3-0001-01) from ANR. B.G. was funded by BMBF (German Federal Ministry of Education and Research) grants 01E01303 and 01ZX1306F. I.M. is supported by a klinische onderzoeks-en opleidingsraad (clinical research council) grant from UZ Leuven, a klinisch onderzoeksfonds (clinical research fund) grant from KU Leuven, and an International Mobility Grant from Fonds voor Wetenschappelijk Onderzoek (fund for scientific research) Vlaanderen. C.S.M., E.K.D., and S.G.T. are supported by grants and fellowships from the National Health and Medical Research Council of Australia. C.S.M., P.G., E.K.D., and S.G.T. are members of CIRCA (Clinical Immunogenomics Research Consortia Australia), which is funded by the Office of Health and Medical Research of the NSW Government, the Jeffrey Modell Foundation, and the John Cook Brown Foundation. A.I.L. is a scholar of the Pasteur-Paris University International Ph.D. program and is supported by a Ph.D. International Training Network grant from the European Union's Seventh Framework Program under grant agreement no. 317057 (HOMIN). T.A.C. was supported by a grant from the National Institute of Allergy and Infectious Diseases of the NIH (5R01AI065617). S.K. was supported by a grant from the Scientific and Technological Research Council of Turkey (1059B191300622). J.-X.L., P.L., N.D., and W.J.L. were supported by the Division of Intramural Research, National Heart, Lung, and Blood Institute, NIH. A.P. was supported by an AP-HP interface contract.en_US
dc.identifier.doi10.1126/sciimmunol.aat4956
dc.identifier.issn2470-9468
dc.identifier.issue24en_US
dc.identifier.pmid29907691en_US
dc.identifier.scopus2-s2.0-85052886349en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.urihttps://doi.org/10.1126/sciimmunol.aat4956
dc.identifier.urihttps://hdl.handle.net/20.500.12452/14068
dc.identifier.volume3en_US
dc.identifier.wosWOS:000443216900005en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherAmer Assoc Advancement Scienceen_US
dc.relation.ispartofScience Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject[Keyword Not Available]en_US
dc.titleA recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activityen_US
dc.typeArticleen_US

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