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

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 symptom...

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Detalles Bibliográficos
Autores principales: Aslani, Nahid, Asnaashari, Kosar, Parvaneh, Nima, Shahrooei, Mohammad, Sotoudeh-Anvari, Maryam, Shahram, Farhad, Ziaee, Vahid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9446712/
https://www.ncbi.nlm.nih.gov/pubmed/36064566
http://dx.doi.org/10.1186/s12969-022-00735-1