Frontiers in Pediatrics (May 2024)
IKAROS—how many feathers have you lost: mild and severe phenotypes in IKZF1 deficiency
- Timmy Strauss,
- Timmy Strauss,
- Timmy Strauss,
- Julia Körholz,
- Julia Körholz,
- Julia Körholz,
- Hye Sun Kuehn,
- Agustin A. Gil Silva,
- Franziska Taube,
- Franziska Taube,
- Karolin Trautmann-Grill,
- Anna Stittrich,
- Leonora Pietzsch,
- Leonora Pietzsch,
- Ralf Wiedemuth,
- Ralf Wiedemuth,
- Volker Wahn,
- Horst von Bernuth,
- Horst von Bernuth,
- Horst von Bernuth,
- Sergio D. Rosenzweig,
- Maria Fasshauer,
- Renate Krüger,
- Catharina Schuetz,
- Catharina Schuetz,
- Catharina Schuetz
Affiliations
- Timmy Strauss
- Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
- Timmy Strauss
- University Center for Rare Diseases, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
- Timmy Strauss
- Faculty of Medicine and University Hospital Carl Gustav Carus, University Center for Chronic Immunodeficiencies (UCID), Technische Universität Dresden, Dresden, Germany
- Julia Körholz
- Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
- Julia Körholz
- University Center for Rare Diseases, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
- Julia Körholz
- Faculty of Medicine and University Hospital Carl Gustav Carus, University Center for Chronic Immunodeficiencies (UCID), Technische Universität Dresden, Dresden, Germany
- Hye Sun Kuehn
- Immunology Service, Department of Laboratory Medicine, NIH Clinical Center, Bethesda, MD, United States
- Agustin A. Gil Silva
- Immunology Service, Department of Laboratory Medicine, NIH Clinical Center, Bethesda, MD, United States
- Franziska Taube
- Faculty of Medicine and University Hospital Carl Gustav Carus, University Center for Chronic Immunodeficiencies (UCID), Technische Universität Dresden, Dresden, Germany
- Franziska Taube
- Department of Hematology and Oncology, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
- Karolin Trautmann-Grill
- Department of Hematology and Oncology, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
- Anna Stittrich
- Department of Human Genetics, Labor Berlin Charité-Vivantes GmbH, Berlin, Germany
- Leonora Pietzsch
- Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
- Leonora Pietzsch
- Faculty of Medicine and University Hospital Carl Gustav Carus, University Center for Chronic Immunodeficiencies (UCID), Technische Universität Dresden, Dresden, Germany
- Ralf Wiedemuth
- Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
- Ralf Wiedemuth
- Faculty of Medicine and University Hospital Carl Gustav Carus, University Center for Chronic Immunodeficiencies (UCID), Technische Universität Dresden, Dresden, Germany
- Volker Wahn
- Department of Pediatric Respiratory Medicine, Immunology, and Critical Care Medicine, Charité–Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, Berlin, Germany
- Horst von Bernuth
- Department of Pediatric Respiratory Medicine, Immunology, and Critical Care Medicine, Charité–Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, Berlin, Germany
- Horst von Bernuth
- Berlin Institute of Health (BIH), Charité—Universitätsmedizin Berlin, Berlin, Germany
- Horst von Bernuth
- Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité—Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany
- Sergio D. Rosenzweig
- Immunology Service, Department of Laboratory Medicine, NIH Clinical Center, Bethesda, MD, United States
- Maria Fasshauer
- 0ImmunoDeficiencyCenter Leipzig (IDCL), Hospital St. Georg GGmbH Leipzig, Academic Teaching Hospital of the University of Leipzig, Leipzig, Germany
- Renate Krüger
- Department of Pediatric Respiratory Medicine, Immunology, and Critical Care Medicine, Charité–Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, Berlin, Germany
- Catharina Schuetz
- Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
- Catharina Schuetz
- University Center for Rare Diseases, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
- Catharina Schuetz
- Faculty of Medicine and University Hospital Carl Gustav Carus, University Center for Chronic Immunodeficiencies (UCID), Technische Universität Dresden, Dresden, Germany
- DOI
- https://doi.org/10.3389/fped.2024.1345730
- Journal volume & issue
-
Vol. 12
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.
Keywords
