{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["218(12)"],"submitter":["Kuehn HS"],"funding":["RIKEN Center for Integrative Medical Sciences","NIH Clinical Center","National Institutes of Health","NIH HHS"],"pubmed_abstract":["AIOLOS/IKZF3 is a member of the IKAROS family of transcription factors. IKAROS/IKZF1 mutations have been previously associated with different forms of primary immunodeficiency. Here we describe a novel combined immunodeficiency due to an IKZF3 mutation in a family presenting with T and B cell involvement, Pneumocystis jirovecii pneumonia, and/or chronic lymphocytic leukemia. Patients carrying the AIOLOS p.N160S heterozygous variant displayed impaired humoral responses, abnormal B cell development (high percentage of CD21low B cells and negative CD23 expression), and abrogated CD40 responses. Naive T cells were increased, T cell differentiation was abnormal, and CD40L expression was dysregulated. In vitro studies demonstrated that the mutant protein failed DNA binding and pericentromeric ta"],"journal":["The Journal of experimental medicine"],"pagination":["e20211118"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8548914"],"repository":["biostudies-literature"],"pubmed_title":["T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients."],"pmcid":["PMC8548914"],"pubmed_authors":["Taniuchi I","Niemela JE","Stoddard JL","Nunes-Santos CJ","Boast B","Fleisher TA","Zou C","Baxter RM","Morio T","Rosenzweig SD","Harada J","Okuyama K","Kuehn HS","Chang J","Garofalo M","Dutmer CM","Yamashita M","Hsieh EWY"],"additional_accession":[]},"is_claimable":false,"name":"T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients.","description":"AIOLOS/IKZF3 is a member of the IKAROS family of transcription factors. IKAROS/IKZF1 mutations have been previously associated with different forms of primary immunodeficiency. Here we describe a novel combined immunodeficiency due to an IKZF3 mutation in a family presenting with T and B cell involvement, Pneumocystis jirovecii pneumonia, and/or chronic lymphocytic leukemia. Patients carrying the AIOLOS p.N160S heterozygous variant displayed impaired humoral responses, abnormal B cell development (high percentage of CD21low B cells and negative CD23 expression), and abrogated CD40 responses. Naive T cells were increased, T cell differentiation was abnormal, and CD40L expression was dysregulated. In vitro studies demonstrated that the mutant protein failed DNA binding and pericentromeric ta","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Dec","modification":"2026-05-08T18:28:55.966Z","creation":"2022-02-11T13:29:16.21Z"},"accession":"S-EPMC8548914","cross_references":{"pubmed":["34694366"],"doi":["10.1084/jem.20211118"]}}