AUTHOR=Strauss Timmy , Körholz Julia , Kuehn Hye Sun , Gil Silva Agustin A. , Taube Franziska , Trautmann-Grill Karolin , Stittrich Anna , Pietzsch Leonora , Wiedemuth Ralf , Wahn Volker , von Bernuth Horst , Rosenzweig Sergio D. , Fasshauer Maria , Krüger Renate , Schuetz Catharina 

TITLE=IKAROS—how many feathers have you lost: mild and severe phenotypes in IKZF1 deficiency

JOURNAL=Frontiers in Pediatrics

VOLUME=12

YEAR=2024

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2024.1345730

DOI=10.3389/fped.2024.1345730

ISSN=2296-2360

ABSTRACT=<p>Heterozygous germline variants in human <italic>IKZF1</italic> 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 <italic>IKZF1</italic> 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.</p>