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Paper Details

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.
Nat Genet
401
2016
-derived cells, A20, A20 haploinsufficiency, A20 proteins, Behet's disease, IB, Lys63, NEMO, NF-B, NF-B regulatory protein, Patient, Patient-, RIP1, TNF, TNFAIP3, TRAF6, autoinflammatory disease, autoinflammatory diseases, haploinsufficiency, mutant A20 protein, p65 subunit, patients, polygenic disorder, systemic inflammation, tumor, tumor necrosis factor, ubiquitin
Author NameAffiliation
Wanxia Li TsaiNational Institute of Arthritis and Musculoskeletal and Skin Diseases
Settara C ChandrasekharappaNational Human Genome Research Institute
James C MullikinNational Institute of Health Intramural Sequencing Center, National Human Genome Research Institute
James C MullikinNational Institute of Health Intramural Sequencing Center, National Human Genome Research Institute
Joshua D MilnerNational Institute of Allergy and Infectious Diseases
Massimo GadinaNational Institute of Arthritis and Musculoskeletal and Skin Diseases
Massimo GadinaNational Institute of Arthritis and Musculoskeletal and Skin Diseases
Daniel L KastnerNational Human Genome Research Institute
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