A novel X-linked mutation in IL2RG associated with early-onset inflammatory bowel disease: a case report of twin brothers

BACKGROUND: X-linked severe combined immunodeficiency is caused by IL2RG gene mutation. Several variations have been identified in the IL2RG gene, which potentially can prevent the production of nonfunctional proteins. Herein, a novel X-linked variant in the IL2RG gene is reported in twin brothers,...

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Detalles Bibliográficos
Autores principales: Rayzan, Elham, Sadeghalvad, Mona, Shahkarami, Sepideh, Zoghi, Samaneh, Aryan, Zahra, Mahdaviani, Seyed Alireza, Boztug, Kaan, Rezaei, Nima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10353185/
https://www.ncbi.nlm.nih.gov/pubmed/37461086
http://dx.doi.org/10.1186/s13256-023-04049-y

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