Article
Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders.
The Journal of allergy and clinical immunology - 1 Jul 2022
Coppola Simona, Insalaco Antonella, Zara Erika, Di Rocco Martina, Marafon Denise Pires, Spadaro Francesca, Pannone Luca, Farina Luciapia, Pasquini Luca, Martinelli Simone, De Benedetti Fabrizio, Tartaglia Marco
Abstract excerpt
BACKGROUND: Pathogenic missense variants in cell division control protein 42 (CDC42) differentially affect protein function, causing a clinically wide phenotypic spectrum variably affecting neurodevelopment, hematopoiesis, and immune response. More recently, 3 variants at the C-terminus of CDC42 were proposed to similarly impact protein function and cause a novel autoinflammatory disorder. OBJECTIVES: We sought...
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