%0 Journal Article
%T IKAROS-how many feathers have you lost: mild and severe phenotypes in IKZF1 deficiency.
%A Strauss T
%A Körholz J
%A Kuehn HS
%A Gil Silva AA
%A Taube F
%A Trautmann-Grill K
%A Stittrich A
%A Pietzsch L
%A Wiedemuth R
%A Wahn V
%A von Bernuth H
%A Rosenzweig SD
%A Fasshauer M
%A Krüger R
%A Schuetz C
%J Front Pediatr
%V 12
%N 0
%D 2024
%M 38813543
%F 3.569
%R 10.3389/fped.2024.1345730
%X 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 symptoms to a final diagnosis including data from the literature.