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Article

TNFAIP3 mutation causing haploinsufficiency of A20 with a hemophagocytic lymphohistiocytosis phenotype: a report of two cases.

Pediatric rheumatology online journal - 5 Sept 2022

Aslani Nahid, Asnaashari Kosar, Parvaneh Nima, Shahrooei Mohammad, Sotoudeh-Anvari Maryam, Shahram Farhad, Ziaee Vahid

Abstract excerpt

BACKGROUND: A20 haploinsufficiency (HA20) is a newly introduced autosomal dominant autoinflammatory disorder, also known as Behcet's-like disease. Some of the most common symptoms of the disease are recurrent oral, genital, and/or gastrointestinal (GI) ulcers, episodic fever, musculoskeletal symptoms, cutaneous lesions, and recurrent infections. Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening...

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Identifiers

PMID: 36064566
DOI: 10.1186/s12969-022-00735-1
PMCID: PMC9446712

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TNFAIP3 mutation causing haploinsufficiency of A20 with a hemophagocytic lymphohistiocytosis phenotype: a report of two cases.PMID 36064566Read ↗

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