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Article

Reticular dysgenesis caused by AK2 deficiency: clinical spectrum and hematopoietic stem cell transplantation outcomes in 10 patients from a single-center.

Frontiers in immunology - 1 Jan 2026

Alaqeel Bothainah, Aljohani Faiz, Alrumayan Nora, Al-Ahmari Ali, Mohammed Reem, Alsaedi Hawazen, Ayas Mouhab, Albuhairi Sultan, Elshorbagi Sahar, Arnaout Rand, Alazami Anas M, Alsaud Bander, Al-Mousa Hamoud

Abstract excerpt

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 (HSCT) outcomes remain scarce. Methods: In this retrospective single-center study, we analyzed genetically...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42112325
DOI: 10.3389/fimmu.2026.1829403
PMCID: PMC13149109

Genes

AK2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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