All Publications

  • Expanding the potential genes of inborn errors of immunity through protein interactions BMC GENOMICS Khan, H. A., Butte, M. J. 2021; 22 (1): 618


    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.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.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.

    View details for DOI 10.1186/s12864-021-07909-3

    View details for Web of Science ID 000686658700001

    View details for PubMedID 34391382

    View details for PubMedCentralID PMC8364696

  • The Actin-Capping Protein Alpha-Adducin Is Required for T-Cell Costimulation FRONTIERS IN IMMUNOLOGY Thauland, T. J., Khan, H. A., Butte, M. J. 2019; 10: 2706


    Alpha-adducin (Add1) is a critical component of the actin-spectrin network in erythrocytes, acting to cap the fast-growing, barbed ends of actin filaments, and recruiting spectrin to these junctions. Add1 is highly expressed in T cells, but its role in T-cell activation has not been examined. Using a conditional knockout model, we show that Add1 is necessary for complete activation of CD4+ T cells in response to low levels of antigen but is dispensable for CD8+ T cell activation and response to infection. Surprisingly, costimulatory signals through CD28 were completely abrogated in the absence of Add1. This study is the first to examine the role of actin-capping in T cells, and it reveals a previously unappreciated role for the actin cytoskeleton in regulating costimulation.

    View details for DOI 10.3389/fimmu.2019.02706

    View details for Web of Science ID 000501301000001

    View details for PubMedID 31824498

    View details for PubMedCentralID PMC6879651