Article
Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.
Journal of clinical immunology - 1 Feb 2023
Alabbas Fahad, Alanzi Talal, Alrasheed Abdulrahman, Essa Mohammed, Elyamany Ghaleb, Asiri Abdulrahman, Almutairi Sajdi, Al-Mayouf Sulaiman, Alenazi Abdullatif, Alsafadi Danyah, Ballourah Walid, Albalawi Naif, Hanafy Ehab, Al-Hebshi Abdulqader, Alrashidi Seham, Albatniji Fatma, Alfaraidi Huda, Ali Tahani Bin, Al Qwaiee Mansour, AlHilali Maryam, Aldeeb Hayam, Alhaidey Ali, Aljasem Hassan, Althubaiti Sami, Alsultan Abdulrahman
Abstract excerpt
Adenosine deaminase 2 deficiency (DADA2), a rare and potentially fatal systemic autoinflammatory disease, is characterized by low or lack of ADA2 activity due to ADA2 mutations. DADA2 symptoms are variable and include vasculitis, immunodeficiency, and cytopenia. Minimal data are available from Saudi Arabia. This retrospective study conducted at seven major tertiary medical centers examined the phenotypic and...
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