KEGG DISEASE: Familial Behcet-like autoinflammatory syndrome

DISEASE: Familial Behcet-like autoinflammatory syndrome

Entry

H02592                      Disease

Name

Familial Behcet-like autoinflammatory syndrome

Supergrp

Inherited autoinflammatory disease [DS:H02599]

Description

Familial Behcet-like autoinflammatory syndrome (AIFBL) is an autosomal dominant monogenic autoinflammatory disease characterized by early-onset systemic inflammation, arthralgia/arthritis, oral/genital ulcers, and ocular inflammation.

Category

Immune system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Autoinflammatory disorders
   4A60  Monogenic autoinflammatory syndromes
    H02592  Familial Behcet-like autoinflammatory syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06516  TNF signaling
   H02592  Familial Behcet-like autoinflammatory syndrome

Network

nt06516 TNF signaling

Gene

(AIFBL1) TNFAIP3 [HSA:7128] [KO:K11859]
(AIFBL2) ELF4 [HSA:2000] [KO:K09428]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:34699263

Authors

Rood JE, Behrens EM

Title

Inherited Autoinflammatory Syndromes.

Journal

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

Reference

PMID:26642243 (AIFBL1)

Authors

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

Title

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

Journal

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

Reference

PMID:35266071 (AIFBL2)

Authors

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

Title

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

Journal

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

LinkDB

» Japanese version

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