Pediatric blood & cancerHumansIkaros Transcription FactorPurpuraThrombotic ThrombocytopenicMale
IKAROS Associated Immunodeficiency and Thrombotic Thrombocytopenic Purpura.
Ilia Spivak, Daniella Magen, Karin Weiss, Tamar Paperna, Suhair Hanna, Amos Etzioni, Adi Miller-Barmak, Yonatan Butbul Aviel
Published: 202610.1002/pbc.32173
Abstract
Pathogenic variants in IKZF1 (IKAROS) are linked to immunodeficiency, malignancy, and immune dysregulation. We describe a family with a rare IKZF1 variant presenting with humoral immunodeficiency and thrombotic thrombocytopenic purpura (TTP). A non-c…
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