Allogeneic hematopoietic stem cell transplant outcomes for patients with dominant negative IKZF1/IKAROS mutations

JACI (AOP) by Erinn S. Kellner, Christa Krupski, .. - 5h ago Preview

 
 
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The transcription factor IKAROS is encoded by the IKZF1 gene and plays a crucial role in lymphopoiesis.1,2 Somatic and, more recently, germline mutations of IKZF1 are associated with a number of hematologic malignancies, most notably B-cell precursor acute lymphoblastic leukemia.3,4 A germline mutation in IKZF1 was first reported as a monogenic cause of human disease in a single neonate in 2012 after similarities were noted between the patient's phenotype and an IKAROS knockout mouse model.5 Subsequently, autosomal dominant mutations leading to haploinsufficiency were discovered to underlie a proportion of patients with common variable immunodeficiency and low B-cell numbers.