Background Ikaros, which is encoded by IKZF1, is a transcriptional factor that play a critical
role in hematopoiesis. Somatic IKZF1 alterations are known to be involved in the
pathogenesis of leukemia in human subjects. Recently, immunodeficiency caused by
germline IKZF1 mutation has been described. Objective We sought to describe the clinical
and immunologic phenotypes of Japanese patients with heterozygous IKZF1 mutations.
Methods We performed whole-exome sequencing in patients from a …