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

BMC Genomics

Manish J. Butte¹  Humza A. Khan¹ 

[1] Division of Immunology, Allergy, and Rheumatology, Department of Pediatrics, University of California Los Angeles, 10833 Le Conte Ave, MDCC Building, Room 12-430, 90095, Los Angeles, CA, USA;Department of Microbiology, Immunology, and Molecular Genetics, University of California Los Angeles, 10833 Le Conte Ave, MDCC Building, Room 12-430, 90095, Los Angeles, CA, USA;

关键词: Inborn errors of immunity;    Clinical immunology;    Next-generation sequencing;    Protein-protein interactions;    Primary immunodeficiency;   

DOI  :  10.1186/s12864-021-07909-3

来源: Springer

【 摘 要 】

BackgroundInborn 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.ResultsHere 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.ConclusionsBy 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.

【 授权许可】

CC BY