Demographic, clinical, immunological, and molecular features of iranian national cohort of patients with defect in DCLRE1C gene

BACKGROUND: DCLRE1C gene mutation leads to Artemis deficiency, a severe form of combined immunodeficiency (SCID). Impaired DNA repair and block in early adaptive immunity maturation results in T-B-NK+ immunodeficiency associated with radiosensitivity. Recurrent infections early in life are the main...

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Detalles Bibliográficos
Autores principales: Ghadimi, Soodeh, Jamee, Mahnaz, Abolhassani, Hassan, Parvaneh, Nima, Rezaei, Nima, Delavari, Samaneh, Sadeghi-Shabestari, Mahnaz, Tabatabaei, Sedigheh Rafiei, Fahimzad, Alireza, Armin, Shahnaz, Chavoshzadeh, Zahra, Sharafian, Samin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9942309/
https://www.ncbi.nlm.nih.gov/pubmed/36810129
http://dx.doi.org/10.1186/s13223-023-00768-5

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