Novel hemizygous CORO1A variant leads to combined immunodeficiency with defective platelet calcium signaling and cell mobility

BACKGROUND: To date, fewer than 20 patients have been identified as having germline biallelic mutations in the coronin-1A gene (CORO1A) and its protein with clinical features of combined immunodeficiency characterized by T-cell lymphopenia ranging from the severe phenotype to the mild phenotype, rec...

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Detalles Bibliográficos
Autores principales: Khoreva, Anna, Butov, Kirill R., Nikolaeva, Elena I., Martyanov, Alexey, Kulakovskaya, Elena, Pershin, Dmitry, Alexenko, Maxim, Kurnikova, Maria, Abasov, Ruslan, Raykina, Elena, Abramov, Dmitry, Arnaudova, Kristina, Rodina, Yulia, Trubina, Natalia, Skvortsova, Yulia, Balashov, Dmitry, Sveshnikova, Anastasia, Maschan, Alexey, Novichkova, Galina, Panteleev, Mikhail, Shcherbina, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10616384/
https://www.ncbi.nlm.nih.gov/pubmed/37915722
http://dx.doi.org/10.1016/j.jacig.2023.100172

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