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

• Published in: Science immunology Vol. 3; no. 24
• Main Authors: Béziat, 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, Lévy, Romain, Leclercq, Thibaut, About, Frédégonde, Lim, Ai Ing, Rao, Geetha, Payne, Kathryn, Pelham, Simon J, Avery, Danielle T, Deenick, Elissa K, Pillay, Bethany, Chou, Janet, Guery, Romain, Belkadi, Aziz, Guérin, Antoine, Migaud, Mélanie, 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 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
• Format: Journal Article
• Language: English
• Published: United States 15.06.2018
• Subjects: Adolescent; Adult; Cell Differentiation - genetics; Cell Differentiation - immunology; Cell Nucleus - metabolism; Consanguinity; Cytokines - immunology; Cytokines - metabolism; Exome Sequencing; Exons - genetics; Female; Gene Expression Regulation - immunology; Genes, Recessive - genetics; Genes, Recessive - immunology; Homozygote; Humans; Immunoglobulin E - blood; Immunoglobulin E - immunology; Job Syndrome - blood; Job Syndrome - genetics; Job Syndrome - immunology; Loss of Function Mutation; Lymphocyte Count; Male; Middle Aged; Pedigree; Promoter Regions, Genetic - genetics; RNA, Messenger - metabolism; STAT3 Transcription Factor - genetics; STAT3 Transcription Factor - immunology; STAT3 Transcription Factor - metabolism; Th17 Cells - immunology; Th17 Cells - metabolism; Th2 Cells - immunology; Th2 Cells - metabolism; Transcription Factors - genetics; Transcription Factors - immunology; Transcription Factors - metabolism; Transcription, Genetic - immunology; Young Adult; Zinc Fingers - genetics

Heterozygosity for human ( ) 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 is a transcriptio...