Cernunnos defect in an Iranian patient with T(−) B(+) NK (+) severe combined immunodeficiency: A case report and review of the literature

BACKGROUND: Defective Cernunnos gene in nonhomologous end‐joining (NHEJ) pathway of the DNA repair is responsible for radiosensitive severe combined immunodeficiency (SCID). Herein, presented a new patient with Cernunnos deficiency and summarized the clinical, immunological, and molecular features o...

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Detalles Bibliográficos
Autores principales: Jamee, Mahnaz, Khakbazan Fard, Nasrin, Fallah, Shahrzad, Golchehre, Zahra, Fallahi, Mazdak, Shamsian, Bibi Shahin, Sharafian, Samin, Chavoshzadeh, Zahra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356558/
https://www.ncbi.nlm.nih.gov/pubmed/35656589
http://dx.doi.org/10.1002/mgg3.1990

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356558/
https://www.ncbi.nlm.nih.gov/pubmed/35656589
http://dx.doi.org/10.1002/mgg3.1990

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