Case Report: A novel mutation in TNFAIP3 in a patient with type 1 diabetes mellitus and haploinsufficiency of A20
BackgroundHaploinsufficiency of A20 (HA20) is a monogenic autosomal-dominant genetic autoinflammatory disease caused by loss of function mutations in the TNFAIP3 gene. The predominant autoimmune phenotype associated with HA20 varies significantly, presenting with fever, recurrent oral and genital ul...
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| Auteurs principaux: | , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Frontiers Media S.A.
2023-05-01
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| Collection: | Frontiers in Endocrinology |
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| Accès en ligne: | https://www.frontiersin.org/articles/10.3389/fendo.2023.1131437/full |
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