ArticleEJHaem2026
RASGRP1 Deficiency Manifesting as Severe Vasculopathy and Fatal Autoimmune Hemolytic Anemia.
Article in EJHaem, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
6 authors.
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Abstract
Background: RASGRP1 deficiency is a rare inborn error of immunity characterized by immunodeficiency, autoimmunity, and lymphoproliferation. Results: We report a 5-year-old male with novel homozygous splice-donor mutations in Conclusion: A review of 14 previously reported cases (plus current case) confirms that while infections (100%) and lymphoproliferation (87%) are common, vascular autoimmunity is an emerging life-threatening phenotype. Hematopoietic stem cell transplantation remains the only curative therapy, as conservative management carries high mortality. Early genetic diagnosis is essential for optimal management.
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