Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome

Article ID	Journal	Published Year	Pages	File Type
5646549	Journal of Allergy and Clinical Immunology	2017	191 Pages	PDF

Abstract

Haploinsufficiency of TNFAIP3 (A20) by a germline heterozygous mutation leads to the ALPS phenotype.

Keywords

IKK DNT CASP WES TRAF6 NF-κB NEMO GFP IκB kinase MAPK Whole-exome sequencing Alps autoimmune lymphoproliferative syndrome nuclear factor κB NF-κB essential modulator wild-type green fluorescent protein mitogen-activated protein kinase caspase

Related Topics

Life Sciences Immunology and Microbiology Immunology

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Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome

Authors

Masatoshi MD, PhD, Shohei MD, PhD, Hiroo MD, Kenichi MD, PhD, Tzuwen BSc, Akihiro MD, PhD, Jinhua DDS, PhD, Motoy MD, Mai PhD, Tsubasa MD, Michiko MD, PhD, Hirokazu MD, PhD, Hideki MD, PhD, Yusuke MD, PhD, Yuichi MD, PhD, Kenichi BA, Hiroko BS, Yuki MD,