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