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Autoinflammatory syndrome, familial, Behcet-like

MedGen UID:: 852237
•Concept ID:: CN234876
•: Disease or Syndrome

Synonym:	autoinflammatory syndrome, familial, Behcet-like

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	TNFAIP3, ELF4

Monarch Initiative:	MONDO:0031384
OMIM® Phenotypic series:	PS616744

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAutoinflammatory syndrome, familial, Behcet-like
- CROGVAutoinflammatory syndrome, familial, Behcet-like 1
- CROGVAutoinflammatory syndrome, familial, X-linked, Behcet-like 2

Autoinflammatory syndrome, familial, Behcet-like
- Autoinflammatory syndrome, familial, Behcet-like 1
- Autoinflammatory syndrome, familial, X-linked, Behcet-like 2

Recent clinical studies

Etiology

A novel missense mutation in TNFAIP3 causes haploinsufficiency of A20.

Jiang W, Deng M, Gan C, Wang L, Mao H, Li Q
Cell Immunol 2022 Jan;371:104453. Epub 2021 Nov 10 doi: 10.1016/j.cellimm.2021.104453. PMID: 34808442

See all (1)

Diagnosis

A novel missense mutation in TNFAIP3 causes haploinsufficiency of A20.

Jiang W, Deng M, Gan C, Wang L, Mao H, Li Q
Cell Immunol 2022 Jan;371:104453. Epub 2021 Nov 10 doi: 10.1016/j.cellimm.2021.104453. PMID: 34808442

Mutation analysis of the TNFAIP3 in A20 haploinsufficiency: A case report.

Yan M, Li D, Aknai S, Zhu H, Abudureyim M
Medicine (Baltimore) 2021 May 21;100(20):e25954. doi: 10.1097/MD.0000000000025954. PMID: 34011076 Free PMC Article

The First Case of an Infant with Familial A20 Haploinsufficiency in Korea.

Kim HY, Song JY, Kim WI, Ko HC, Park SE, Jang JH, Kim SH
J Korean Med Sci 2020 Aug 3;35(30):e252. doi: 10.3346/jkms.2020.35.e252. PMID: 32743991 Free PMC Article

Pseudodominance of autoinflammatory disease in a single Turkish family explained by co-inheritance of haploinsufficiency of A20 and familial Mediterranean fever.

Horita N, Gül A, Aksentijevich I, Kastner D, Remmers EF
Clin Exp Rheumatol 2019 Nov-Dec;37 Suppl 121(6):89-92. Epub 2019 Jul 15 PMID: 31376265

Coinheritance of generalized pustular psoriasis and familial Behçet-like autoinflammatory syndrome with variants in IL36RN and TNFAIP3 in the heterozygous state.

Liang J, Zhang H, Guo Y, Yang K, Ni C, Yu H, Kong X, Li M, Lu Z, Yao Z
J Dermatol 2019 Oct;46(10):907-910. Epub 2019 Jul 29 doi: 10.1111/1346-8138.15034. PMID: 31353537

See all (5)

Therapy

Mutation analysis of the TNFAIP3 in A20 haploinsufficiency: A case report.

Yan M, Li D, Aknai S, Zhu H, Abudureyim M
Medicine (Baltimore) 2021 May 21;100(20):e25954. doi: 10.1097/MD.0000000000025954. PMID: 34011076 Free PMC Article

See all (1)

Clinical prediction guides

A novel missense mutation in TNFAIP3 causes haploinsufficiency of A20.

Jiang W, Deng M, Gan C, Wang L, Mao H, Li Q
Cell Immunol 2022 Jan;371:104453. Epub 2021 Nov 10 doi: 10.1016/j.cellimm.2021.104453. PMID: 34808442

Mutation analysis of the TNFAIP3 in A20 haploinsufficiency: A case report.

Yan M, Li D, Aknai S, Zhu H, Abudureyim M
Medicine (Baltimore) 2021 May 21;100(20):e25954. doi: 10.1097/MD.0000000000025954. PMID: 34011076 Free PMC Article

See all (2)

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Autoinflammatory syndrome, familial, Behcet-like

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Clinical prediction guides

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Genetic Testing Registry

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