{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Karakus IS"],"funding":["Austrian Science Fund FWF","Marmara Üniversitesi","Marmara University"],"pagination":["94"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10997552"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["44(4)"],"pubmed_abstract":["<h4>Purpose</h4>Deficiency of stromal interaction molecule 1 (STIM1) results in combined immunodeficiency accompanied by extra-immunological findings like enamel defects and myopathy. We here studied a patient with a STIM1 loss-of-function mutation who presented with severe lymphoproliferation. We sought to explore the efficacy of the mTOR inhibitor rapamycin in controlling disease manifestations and reversing aberrant T-cell subsets and functions, which has never been used previously in this disorder.<h4>Methods</h4>Clinical findings of the patient were collected over time. We performed immunological evaluations before and after initiation of rapamycin treatment, including detailed lymphocyte subset analyses, alterations in frequencies of circulating T follicular helper (cT<sub>FH</sub>) "],"journal":["Journal of clinical immunology"],"pubmed_title":["Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion."],"pmcid":["PMC10997552"],"funding_grant_id":["ADT-2022-10661","Lise Meitner fellowship"],"pubmed_authors":["Ozen A","Yorgun Altunbas M","Bal SK","Karakoc-Aydiner E","Caki-Kilic S","Baris S","Babayeva R","Boztug K","Yalcin Gungoren E","Zemheri IE","Frohne A","Catak MC","Karakus IS","Eltan SB","Bayram Catak F","Kraakman MJ","Esen F"],"additional_accession":[]},"is_claimable":false,"name":"Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion.","description":"<h4>Purpose</h4>Deficiency of stromal interaction molecule 1 (STIM1) results in combined immunodeficiency accompanied by extra-immunological findings like enamel defects and myopathy. We here studied a patient with a STIM1 loss-of-function mutation who presented with severe lymphoproliferation. We sought to explore the efficacy of the mTOR inhibitor rapamycin in controlling disease manifestations and reversing aberrant T-cell subsets and functions, which has never been used previously in this disorder.<h4>Methods</h4>Clinical findings of the patient were collected over time. We performed immunological evaluations before and after initiation of rapamycin treatment, including detailed lymphocyte subset analyses, alterations in frequencies of circulating T follicular helper (cT<sub>FH</sub>) ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Apr","modification":"2025-04-04T12:47:50.267Z","creation":"2025-04-04T12:47:50.267Z"},"accession":"S-EPMC10997552","cross_references":{"pubmed":["38578569"],"doi":["10.1007/s10875-024-01682-0"]}}