A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation

A20 haploinsufficiency (HA20) is an autoinflammatory disease caused by heterozygous loss-of-function variations in TNFAIP3, the gene encoding the A20 protein. Diagnosis of HA20 is challenging due to its heterogeneous clinical presentation and the lack of pathognomonic symptoms. While the pathogenic...

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Detalles Bibliográficos
Autores principales: El Khouri, Elma, Diab, Farah, Louvrier, Camille, Assrawi, Eman, Daskalopoulou, Aphrodite, Nguyen, Alexandre, Piterboth, William, Deshayes, Samuel, Desdoits, Alexandra, Copin, Bruno, Dastot Le Moal, Florence, Karabina, Sonia Athina, Amselem, Serge, Aouba, Achille, Giurgea, Irina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2023
Materias:
Genetics and Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10284599/
https://www.ncbi.nlm.nih.gov/pubmed/37342083
http://dx.doi.org/10.7554/eLife.81280

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