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

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dc.contributor.authorÖZEN, AHMET OĞUZHAN
dc.contributor.authorsBeziat, Vivien; Li, Juan; Lin, Jian-Xin; Ma, Cindy S.; Li, Peng; Bousfiha, Aziz; Pellier, Isabelle; Zoghi, Samaneh; Baris, Safa; Keles, Sevgi; Gray, Paul; Du, Ning; Wang, Yi; Zerbib, Yoann; Levy, Romain; Leclercq, Thibaut; About, Fredegonde; Lim, Ai Ing; Rao, Geetha; Payne, Kathryn; Pelham, Simon J.; Avery, Danielle T.; Deenick, Elissa K.; Pillay, Bethany; Chou, Janet; Guery, Romain; Belkadi, Aziz; Guerin, Antoine; Migaud, Melanie; Rattina, Vimel; Ailal, Fatima; Benhsaien, Ibtihal; Bouaziz, Matthieu; Habib, Tanwir; Chaussabel, Damien; Marr, Nico; El-Benna, Jamel; Grimbacher, Bodo; Wargon, Orli; Bustamante, Jacinta; Boisson, Bertrand; Mueller-Fleckenstein, Ingrid; Fleckenstein, Bernhard; Chandesris, Marie-Olivia; Titeux, Matthias; Fraitag, Sylvie; Alyanakian, Marie-Alexandra; Leruez-Ville, Marianne; Picard, Capucine; Meyts, Isabelle; Di Santo, James P.; Hovnanian, Alain; Somer, Ayper; Ozen, Ahmet; Rezaei, Nima; Chatila, Talal A.; Abel, Laurent; Leonard, Warren J.; Tangye, Stuart G.; Puel, Anne; Casanova, Jean-Laurent
dc.date.accessioned2022-03-14T08:39:30Z
dc.date.available2022-03-14T08:39:30Z
dc.date.issued2018-06-08
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.
dc.identifier.doi10.1126/sciimmunol.aat4956
dc.identifier.issn2470-9468
dc.identifier.pubmed29907691
dc.identifier.urihttps://hdl.handle.net/11424/242104
dc.identifier.wosWOS:000443216900005
dc.language.isoeng
dc.publisherAMER ASSOC ADVANCEMENT SCIENCE
dc.relation.ispartofSCIENCE IMMUNOLOGY
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectOF-FUNCTION MUTATIONS
dc.subjectSIGNAL TRANSDUCER
dc.subjectDIFFERENTIAL EXPRESSION
dc.subjectCELL-DIFFERENTIATION
dc.subjectPRECISION MEDICINE
dc.subjectCLINICAL-FEATURES
dc.subjectIL-21 RECEPTOR
dc.subjectREAD ALIGNMENT
dc.subjectINBORN-ERRORS
dc.subjectT-CELLS
dc.titleA recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity
dc.typearticle
dspace.entity.typePublication
local.avesis.id7cea6731-fefb-4bb1-917e-dcf542348385
local.import.packageSS16
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.articlenumbereaat4956
local.journal.numberofpages18
local.journal.quartileQ1
oaire.citation.issue24
oaire.citation.titleSCIENCE IMMUNOLOGY
oaire.citation.volume3
relation.isAuthorOfPublication3e9c297b-e636-4836-8f61-dc9c8b7c29cf
relation.isAuthorOfPublication.latestForDiscovery3e9c297b-e636-4836-8f61-dc9c8b7c29cf

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