| http://purl.uniprot.org/citations/34694366 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/34694366 | http://www.w3.org/2000/01/rdf-schema#comment | "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 targeting. The mutant was fully penetrant and had a dominant-negative effect over WT AIOLOS but not WT IKAROS. The human immunophenotype was recapitulated in a murine model carrying the corresponding human mutation. As demonstrated here, AIOLOS plays a key role in T and B cell development in humans, and the particular gene variant described is strongly associated with immunodeficiency and likely malignancy."xsd:string |
| http://purl.uniprot.org/citations/34694366 | http://purl.org/dc/terms/identifier | "doi:10.1084/jem.20211118"xsd:string |
| http://purl.uniprot.org/citations/34694366 | http://purl.uniprot.org/core/author | "Chang J."xsd:string |
| http://purl.uniprot.org/citations/34694366 | http://purl.uniprot.org/core/author | "Harada J."xsd:string |
| http://purl.uniprot.org/citations/34694366 | http://purl.uniprot.org/core/author | "Yamashita M."xsd:string |
| http://purl.uniprot.org/citations/34694366 | http://purl.uniprot.org/core/author | "Morio T."xsd:string |
| http://purl.uniprot.org/citations/34694366 | http://purl.uniprot.org/core/author | "Zou C."xsd:string |
| http://purl.uniprot.org/citations/34694366 | http://purl.uniprot.org/core/author | "Fleisher T.A."xsd:string |
| http://purl.uniprot.org/citations/34694366 | http://purl.uniprot.org/core/author | "Kuehn H.S."xsd:string |
| http://purl.uniprot.org/citations/34694366 | http://purl.uniprot.org/core/author | "Rosenzweig S.D."xsd:string |
| http://purl.uniprot.org/citations/34694366 | http://purl.uniprot.org/core/author | "Okuyama K."xsd:string |
| http://purl.uniprot.org/citations/34694366 | http://purl.uniprot.org/core/author | "Niemela J.E."xsd:string |
| http://purl.uniprot.org/citations/34694366 | http://purl.uniprot.org/core/author | "Taniuchi I."xsd:string |
| http://purl.uniprot.org/citations/34694366 | http://purl.uniprot.org/core/author | "Baxter R.M."xsd:string |
| http://purl.uniprot.org/citations/34694366 | http://purl.uniprot.org/core/author | "Dutmer C.M."xsd:string |
| http://purl.uniprot.org/citations/34694366 | http://purl.uniprot.org/core/author | "Hsieh E.W.Y."xsd:string |
| http://purl.uniprot.org/citations/34694366 | http://purl.uniprot.org/core/author | "Garofalo M."xsd:string |
| http://purl.uniprot.org/citations/34694366 | http://purl.uniprot.org/core/author | "Stoddard J.L."xsd:string |
| http://purl.uniprot.org/citations/34694366 | http://purl.uniprot.org/core/author | "Boast B."xsd:string |
| http://purl.uniprot.org/citations/34694366 | http://purl.uniprot.org/core/author | "Nunes-Santos C.J."xsd:string |
| http://purl.uniprot.org/citations/34694366 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
| http://purl.uniprot.org/citations/34694366 | http://purl.uniprot.org/core/name | "J Exp Med"xsd:string |
| http://purl.uniprot.org/citations/34694366 | http://purl.uniprot.org/core/pages | "e20211118"xsd:string |
| http://purl.uniprot.org/citations/34694366 | http://purl.uniprot.org/core/title | "T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients."xsd:string |