A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity

Genetic variants in cell division cycle 42 (CDC42) can manifest with dysmorphic features, autoinflammation, hemophagocytic lymphohistiocytosis, and thrombocytopenia, whereas defective thymopoiesis is a rare disease manifestation. We report a novel CDC42 missense variant (c.46A > G, p.Lys16Glu) re...

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Detalles Bibliográficos
Autores principales: Assing, Kristian, Jørgensen, Sofie E., Sandgaard, Katrine S., De Keukeleere, Kerstin, B.-Hansen, Marie, Petersen, Mikkel S., Hartling, Ulla B., Vaal, Thanis M. K.-de, Nielsen, Christian, Jakobsen, Marianne A., Watt, Eleanor, Adams, Stuart, Hao, Qin, Fagerberg, Christina, Mogensen, Trine H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10661826/
https://www.ncbi.nlm.nih.gov/pubmed/37581646
http://dx.doi.org/10.1007/s10875-023-01561-0

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