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RASGRP1 Deficiency Manifesting as Severe Vasculopathy and Fatal Autoimmune Hemolytic Anemia
Kosar Asna Ashari1,2,3,4, Bahareh Yaghmaie5, Neda Pak2
1Department of Pediatrics Tehran University of Medical Sciences Tehran Iran.
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 RASGRP1(c.1720+1G>A and c.1720+2T>C) who presented with severe vasculopathy (ischemic stroke and thrombosis), secondary antiphospholipid syndrome, and fatal refractory autoimmune hemolytic anemia.
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. Trial Registration: The authors have confirmed clinical trial registration is not needed for this submission.
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