Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains

Inborn errors of immunity (IEI) are genetically driven disorders. With the advancement of sequencing technologies, a rapidly increasing number of gene defects has been identified, thereby mirroring the high heterogeneity in immunological and clinical presentations observed in patients. However, for...

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Detalles Bibliográficos
Autores principales: Wan, Rensheng, Schieck, Maximilian, Caballero-Oteyza, Andrés, Hofmann, Winfried, Cochino, Alexis Virgil, Shcherbina, Anna, Sherkat, Roya, Wache-Mainier, Clarisse, Fernandez, Anita, Sultan, Marc, Illig, Thomas, Grimbacher, Bodo, Proietti, Michele, Steinemann, Doris
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9402522/
https://www.ncbi.nlm.nih.gov/pubmed/35486341
http://dx.doi.org/10.1007/s10875-022-01276-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9402522/
https://www.ncbi.nlm.nih.gov/pubmed/35486341
http://dx.doi.org/10.1007/s10875-022-01276-8

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