Case Report: A novel mutation in TNFAIP3 in a patient with type 1 diabetes mellitus and haploinsufficiency of A20

BACKGROUND: Haploinsufficiency 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...

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Detalles Bibliográficos
Autores principales: Cao, Conghui, Fu, Xue, Wang, Xiaoli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10266219/
https://www.ncbi.nlm.nih.gov/pubmed/37324276
http://dx.doi.org/10.3389/fendo.2023.1131437

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10266219/
https://www.ncbi.nlm.nih.gov/pubmed/37324276
http://dx.doi.org/10.3389/fendo.2023.1131437

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