IKAROS-how many feathers have you lost: mild and severe phenotypes in IKZF1 deficiency

• Main Authors: Timmy Strauss (Author), Julia Körholz (Author), Hye Sun Kuehn (Author), Agustin A. Gil Silva (Author), Franziska Taube (Author), Karolin Trautmann-Grill (Author), Anna Stittrich (Author), Leonora Pietzsch (Author), Ralf Wiedemuth (Author), Volker Wahn (Author), Horst von Bernuth (Author), Sergio D. Rosenzweig (Author), Maria Fasshauer (Author), Renate Krüger (Author), Catharina Schuetz (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...