A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity - 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; et al. (Science immunology, 2018)
Keywords: 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