{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Bosticardo M"],"funding":["Intramural NIH HHS","Telethon","NIAID NIH HHS","NCI NIH HHS"],"pagination":["2611-2616"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7322962"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["4(12)"],"pubmed_abstract":["The study of early T-cell development in humans is challenging because of limited availability of thymic samples and the limitations of in vitro T-cell differentiation assays. We used an artificial thymic organoid (ATO) platform generated by aggregating a DLL4-expressing stromal cell line (MS5-hDLL4) with CD34+ cells isolated from bone marrow or mobilized peripheral blood to study T-cell development from CD34+ cells of patients carrying hematopoietic intrinsic or thymic defects that cause T-cell lymphopenia. We found that AK2 deficiency is associated with decreased cell viability and an early block in T-cell development. We observed a similar defect in a patient carrying a null IL2RG mutation. In contrast, CD34+ cells from a patient carrying a missense IL2RG mutation reached full T-cell ma"],"journal":["Blood advances"],"pubmed_title":["Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopenia."],"pmcid":["PMC7322962"],"funding_grant_id":["ZIA AI001222","TGT16E02","P30 CA016042","U54 AI082973"],"pubmed_authors":["Gardner CL","DeRavin SS","Bosticardo M","Crooks GM","Seet CS","Montel-Hagen A","Hartog N","Sacchetti N","Malech HL","Calzoni E","Draper D","Holland SM","Delmonte OM","Kohn DB","Gungor T","Pala F","Villa A","Garabedian EK","Kawai T","Notarangelo LD","Freeman AF","Bergerson JRE","Dobbs K","Weinacht KG","Markert ML"],"additional_accession":[]},"is_claimable":false,"name":"Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopenia.","description":"The study of early T-cell development in humans is challenging because of limited availability of thymic samples and the limitations of in vitro T-cell differentiation assays. We used an artificial thymic organoid (ATO) platform generated by aggregating a DLL4-expressing stromal cell line (MS5-hDLL4) with CD34+ cells isolated from bone marrow or mobilized peripheral blood to study T-cell development from CD34+ cells of patients carrying hematopoietic intrinsic or thymic defects that cause T-cell lymphopenia. We found that AK2 deficiency is associated with decreased cell viability and an early block in T-cell development. We observed a similar defect in a patient carrying a null IL2RG mutation. In contrast, CD34+ cells from a patient carrying a missense IL2RG mutation reached full T-cell ma","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Jun","modification":"2025-04-18T17:38:35.84Z","creation":"2020-07-03T07:08:53Z"},"accession":"S-EPMC7322962","cross_references":{"pubmed":["32556283"],"doi":["10.1182/bloodadvances.2020001730"]}}