ArticleFrontiers in immunology2026
Reticular dysgenesis caused by AK2 deficiency: clinical spectrum and hematopoietic stem cell transplantation outcomes in 10 patients from a single-center.
Article in Frontiers in immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Energy Homeostasis Disruption in Neurological Disorders: Mitochondrial Dysfunction, High-Energy Phosphate Transfer, and Extracellular ATP-Dependent Purinergic Dysregulation.International journal of molecular sciences · 2026Review
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13 authors.
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Abstract
Introduction: Reticular dysgenesis (RD), caused by biallelic variants in Methods: In this retrospective single-center study, we analyzed genetically confirmed Results: Ten patients from eight unrelated families were included, most with parental consanguinity, all presenting in the neonatal period with severe infections, neutropenia unresponsive to granulocyte colony-stimulating factor, and bilateral sensorineural hearing loss. A recurrent homozygous missense variant ( Discussion: These findings demonstrate that
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