IKAROS—how many feathers have you lost: mild and severe phenotypes in IKZF1 deficiency
Timmy Strauss,
Julia Körholz,
Hye Sun Kuehn
et al.
Abstract:Heterozygous germline variants in human IKZF1 encoding for IKAROS define an inborn error of immunity with immunodeficiency, immune dysregulation and risk of malignancy with a broad phenotypic spectrum. Growing evidence of underlying pathophysiological genotype-phenotype correlations helps to improve our understanding of IKAROS-associated diseases. We describe 6 patients from 4 kindreds with two novel IKZF1 variants leading to haploinsufficiency from 3 centers in Germany. We also provide an overview of first sy… Show more
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