Severe Evans syndrome with multi-system involvement is a distinct immunodeficiency disorder

Pediatric Blood & Cancer
Paul T JubinskyMary K Short

Abstract

A female infant who presented with autoimmune hemolytic anemia and thrombocytopenia subsequently developed hepatic, dermatologic, renal, pulmonary, gastrointestinal, endocrine, and nervous system involvement. Prolonged and intensive treatment with prednisone, IVIG, mycophenolate mofetil, and anti-CD20 and anti-CD52 antibodies was necessary to control the symptoms. Laboratory evaluation showed normal lymphocyte subsets and function. There was normal Foxp3 and CD25 expression, no increased CD4(-)CD8(-) T-cell population, and the AIRE and Fas genes were without mutations. These features place the patient at the most severe portion of the Evans syndrome spectrum, and suggest that this case may represent a rare, new immunodeficiency disorder.

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Citations

Apr 10, 2012·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·A Navarro MingoranceJ L Fuster Soler

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Autoimmune Hemolytic Anemia

Autoimmune hemolytic anemia (AIHA) occurs when antibodies directed against the person's own red blood cells (RBCs) cause them to burst (lyse), leading to an insufficient number of oxygen-carrying red blood cells in the circulation. Discover the latest research on AIHA here.

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