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Expanding the potential genes of inborn errors of immunity through protein interactions

BACKGROUND: Inborn errors of immunity (IEI) are a group of genetic disorders that impair the immune system, with over 400 genes described so far, and hundreds more to be discovered. To facilitate the search for new genes, we need a way to prioritize among all the genes in the genome those most likel...

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Detalles Bibliográficos
Autores principales: Khan, Humza A., Butte, Manish J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8364696/
https://www.ncbi.nlm.nih.gov/pubmed/34391382
http://dx.doi.org/10.1186/s12864-021-07909-3
Descripción
Sumario:BACKGROUND: Inborn errors of immunity (IEI) are a group of genetic disorders that impair the immune system, with over 400 genes described so far, and hundreds more to be discovered. To facilitate the search for new genes, we need a way to prioritize among all the genes in the genome those most likely to play an important role in immunity. RESULTS: Here we identify a new list of genes by linking known IEI genes to new ones by using open-source databases of protein-protein interactions, post-translational modifications, and transcriptional regulation. We analyze this new set of 2,530 IEI-related genes for their tolerance of genetic variation and by their expression levels in various immune cell types. CONCLUSIONS: By merging genes derived from protein interactions of known IEI genes with transcriptional data, we offer a new list of candidate genes that may play a role in as-yet undiscovered IEIs. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12864-021-07909-3.