Accès ouvert
2026
article
OpenAlex
Bashayr Alanazi, Reem Mohammed, Ali Al-Ahmari, Nora Alrumayan et autres
Background DOCK8 deficiency is a severe autosomal recessive combined immunodeficiency characterized by recurrent infections, severe atopy, immune dysregulation, and an increased risk of malignancy. Allogeneic hematopoietic stem cell transplantation (HSCT) remains the only curative treatment. We aimed to evaluate the long-term survival, …
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Accès ouvert
2026
article
OpenAlex
Abdullah Al‐Jefri, Khawar S. Siddiqui, Murtada Al‐Sultan, Sami Al‐Otaibi et autres
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Accès ouvert
2026
article
OpenAlex
Bothainah Alaqeel, Faiz Aljohani, Nora Alrumayan, Ali Al-Ahmari et autres
Background Reticular dysgenesis (RD) is the most severe and rarest form of severe combined immunodeficiency (SCID), characterized by profound defects in both lymphoid and myeloid lineages and caused by biallelic pathogenic variants in AK2. Due to its rarity, data on the clinical …
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(code pays fourni par la source)
Accès ouvert
2026
article
OpenAlex
Bothainah Alaqeel, Faiz Aljohani, Nora Alrumayan, Ali Al-Ahmari et autres
Introduction Reticular dysgenesis (RD), caused by biallelic variants in AK2 , represents the most severe and rare form of Severe Combined Immunodeficiency, characterized by profound defects in lymphoid and myeloid lineages; however, data on its clinical spectrum and hematopoietic stem cell transplantation …
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