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Tytuł pozycji:

A recessive form of Hyper IgE Syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

Tytuł :
A recessive form of Hyper IgE Syndrome by disruption of ZNF341-dependent STAT3 transcription and activity
Autorzy :
Beziat, Vivien
Li, Juan
Lin, Jian-Xin
Ma, Cindy
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, Frédégonde
Lim, Ai Ing
Rao, Geetha
Payne, Kathryn
Pelham, Simon
Avery, Danielle
Deenick, Elissa
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
Müller-Fleckenstein, Ingrid
Fleckenstein, Bernhard
Chandesris, Marie-Olivia
Titeux, Matthias
Fraitag, Sylvie
Alyanakian, Marie-Alexandra
Leruez-Ville, Marianne
Picard, Capucine
Meyts, Isabelle
Di Santo, James
Hovnanian, Alain
Somer, Ayper
Ozen, Ahmet
Rezaei, Nima
Chatila, Talal
Abel, Laurent
Leonard, Warren
Tangye, Stuart
Puel, Anne
Casanova, Jean-Laurent
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Temat :
MESH: Cell Differentiation/immunology
MESH: Th17 Cells/metabolism
MESH: Male
MESH: Gene Expression Regulation/immunology
MESH: RNA, Messenger/metabolism
MESH: Transcription Factors/immunology
[SDV.IMM]Life Sciences [q-bio]/Immunology
MESH: Transcription Factors/metabolism
MESH: Homozygote
MESH: Th2 Cells/metabolism
MESH: Lymphocyte Count
MESH: STAT3 Transcription Factor/immunology
MESH: Transcription Factors/genetics
MESH: Transcription, Genetic/immunology
MESH: Cytokines/metabolism
MESH: Young Adult
MESH: Th17 Cells/immunology
MESH: Cell Nucleus/metabolism
MESH: Female
MESH: Adult
MESH: Cell Differentiation/genetics
MESH: Genes, Recessive/immunology
MESH: Whole Exome Sequencing
MESH: STAT3 Transcription Factor/metabolism
MESH: Adolescent
MESH: Pedigree
MESH: Job Syndrome/blood
MESH: Th2 Cells/immunology
MESH: Consanguinity
MESH: Exons/genetics
MESH: Humans
MESH: Immunoglobulin E/blood
MESH: STAT3 Transcription Factor/genetics
MESH: Cytokines/immunology
Article
MESH: Loss of Function Mutation
MESH: Middle Aged
MESH: Genes, Recessive/genetics
MESH: Promoter Regions, Genetic/genetics
MESH: Zinc Fingers/genetics
MESH: Job Syndrome/immunology
MESH: Immunoglobulin E/immunology
MESH: Job Syndrome/genetics
Źródło :
Science Immunology, American Association for the Advancement of Science, 2018, 3 (24), pp.eaat4956. ⟨10.1126/sciimmunol.aat4956⟩
Wydawca :
American Association for the Advancement of Science, 2018.
Rok publikacji :
2018
Oryginalny identyfikator :
pmc: PMC6141026
pmid: 29907691
Język :
English
ISSN :
2470-9468
DOI :
10.1126/sciimmunol.aat4956
Comment in :Who regulates whom: ZNF341 is an additional player in the STAT3/TH17 song. [Sci Immunol. 2018]; International audience; 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.

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