遺伝性自己炎症疾患 [DS:H02599]

Rood JE, Behrens EM

Inherited Autoinflammatory Syndromes.

Annu Rev Pathol 17:227-249 (2022)
DOI:10.1146/annurev-pathmechdis-030121-041528

Zhou Q, Wang H, Schwartz DM, Stoffels M, Park YH, Zhang Y, Yang D, Demirkaya E, Takeuchi M, Tsai WL, Lyons JJ, Yu X, Ouyang C, Chen C, Chin DT, Zaal K, Chandrasekharappa SC, Hanson EP, Yu Z, Mullikin JC, Hasni SA, Wertz IE, Ombrello AK, Stone DL, Hoffmann P, Jones A, Barham BK, Leavis HL, van Royen-Kerkof A, Sibley C, Batu ED, Gul A, Siegel RM, Boehm M, Milner JD, Ozen S, Gadina M, Chae J, Laxer RM, Kastner DL, Aksentijevich I

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.

Nat Genet 48:67-73 (2016)
DOI:10.1038/ng.3459

Sun G, Qiu L, Yu L, An Y, Ding Y, Zhou L, Wu J, Yang X, Zhang Z, Tang X, Xia H, Cao L, You F, Zhao X, Du H

Loss of Function Mutation in ELF4 Causes Autoinflammatory and Immunodeficiency Disease in Human.

J Clin Immunol 42:798-810 (2022)
DOI:10.1007/s10875-022-01243-3