Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome - Takagi, Masatoshi; Ogata, Shohei; Ueno, Hiroo; Yoshida, Kenichi; Yeh, Tzuwen; Hoshino, Akihiro; Piao, Jinhua; Yamashita, Motoy; Nanya, Mai; Okano, Tsubasa; Kajiwara, Michiko; Kanegane, Hirokazu; et al. (Journal of allergy and clinical immunology, 2017)
Keywords: Allergy and Immunology; Apoptosis; Autoimmune diseases; Autoimmune lymphoproliferative syndrome; Autoimmune Lymphoproliferative Syndrome - genetics; Autoimmune Lymphoproliferative Syndrome - immunology; Cells, Cultured; Children; Disease; Fas antigen; Frameshift mutation; Functional anatomy; Genomes; Germ-Line Mutation; Haploinsufficiency; Humans; Immunoglobulins; Infant; Kinases; Leukocytes, Mononuclear - immunology; Lymphocytes; Male; Mutation; NF-kappa B - immunology; Patients; Pediatrics; Phenotype; Proteins; Science; Signal transduction; TNFAIP3 (A20); Transcription; Tumor Necrosis Factor alpha-Induced Protein 3 - genetics; Tumor Necrosis Factor alpha-Induced Protein 3 - immunology; CASP; WES; IKK; DNT; MAPK; TNFAIP3 (A20); ALPS; GFP; NF-κB; Autoimmune lymphoproliferative syndrome; TRAF6; NEMO; WT; TNF receptor–associated factor 6; Whole-exome sequencing; Caspase; Mitogen-activated protein kinase; Wild-type; IκB kinase; NF-κB essential modulator; Double-negative T; Green fluorescent protein; Nuclear factor κB