Article
A novel iPSC-based model of ICF syndrome subtype 2 recapitulates the molecular phenotype of ZBTB24 deficiency.
Frontiers in immunology - 1 Jan 2024
Lullo Vincenzo, Cecere Francesco, Batti Saveria, Allegretti Sara, Morone Barbara, Fioriniello Salvatore, Pisapia Laura, Genesio Rita, Della Ragione Floriana, Giardino Giuliana, Pignata Claudio, Riccio Andrea, Matarazzo Maria R, Strazzullo Maria
Abstract excerpt
Immunodeficiency, Centromeric instability and Facial anomalies (ICF) syndrome is a rare genetic disorder characterized by variable immunodeficiency. More than half of the affected individuals show mild to severe intellectual disability at early onset. This disorder is genetically heterogeneous and ZBTB24 is the causative gene of the subtype 2, accounting for about 30% of the ICF cases. ZBTB24 is a multifaceted...
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