1. IKAROS—how many feathers have you lost: mild and severe phenotypes in IKZF1 deficiency
- Author
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Timmy Strauss, Julia Körholz, Hye Sun Kuehn, Agustin A. Gil Silva, Franziska Taube, Karolin Trautmann-Grill, Anna Stittrich, Leonora Pietzsch, Ralf Wiedemuth, Volker Wahn, Horst von Bernuth, Sergio D. Rosenzweig, Maria Fasshauer, Renate Krüger, and Catharina Schuetz
- Subjects
IKZF1 ,IKAROS ,transcription factor ,haploinsufficiency ,immunodeficiency ,Pediatrics ,RJ1-570 - 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.
- Published
- 2024
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