{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Oleaga-Quintas C"],"funding":["ECOS-NORD","NIAID NIH HHS","ANR-IFNGPHOX","ANR-HGDIFD","National Institutes of Health","NIH HHS","ANR-GENMSMD"],"pagination":["639-657"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8938944"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["41(3)"],"pubmed_abstract":["<h4>Purpose</h4>Germline heterozygous mutations of GATA2 underlie a variety of hematological and clinical phenotypes. The genetic, immunological, and clinical features of GATA2-deficient patients with mycobacterial diseases in the familial context remain largely unknown.<h4>Methods</h4>We enrolled 15 GATA2 index cases referred for mycobacterial disease. We describe their genetic and clinical features including their relatives.<h4>Results</h4>We identified 12 heterozygous GATA2 mutations, two of which had not been reported. Eight of these mutations were loss-of-function, and four were hypomorphic. None was dominant-negative in vitro, and the GATA2 locus was found to be subject to purifying selection, strongly suggesting a mechanism of haploinsufficiency. Three relatives of index cases had m"],"journal":["Journal of clinical immunology"],"pubmed_title":["Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance."],"pmcid":["PMC8938944"],"funding_grant_id":["R01 AI095983","ANR-14-CE15-006-01","ANR13-ISV3-0001-01","R37AI095983","C19S01-63407","ANR-16-CE17-0005-01","R37 AI095983"],"pubmed_authors":["de Diego RP","Restrepo JF","Lorenzo-Diaz L","Puel A","Martinez-Gallo M","Sajjath SM","Lopez-Herrera G","Lew DB","Jeziorski E","Rodriguez-Gallego C","Vogt G","Witte T","Abel L","Casanova JL","Fernandez-Hidalgo N","Oleaga-Quintas C","Condino-Neto A","Launay E","Bellanne-Chantelot C","Monjo VC","Donadieu J","Deswarte C","Mendez NHS","Guerin A","Gerceker B","Bustamante J","Rosain J","Rapaport F","Vigue MG","Liu K","Thomas C","Mellouli F","Zhou YJ","Lozano C","Ramirez KA","Moncada-Velez M","Neehus AL","de Oliveira-Junior EB","Martinez-Barricarte R","O'Farrill Romanillos P","Cobat A","Marot S","Le Voyer T","Pasquet M","Colobran R","Campos RA","Cuffel A","Marques L","Fieschi C","Ardeniz FO","Branco L","Jobim M","Jobim LF","Alejo NR","Boisson-Dupuis S","Roynard M","Vasconcelos J","Berron-Ruiz L","Brunel AS","Arias AA"],"additional_accession":[]},"is_claimable":false,"name":"Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.","description":"<h4>Purpose</h4>Germline heterozygous mutations of GATA2 underlie a variety of hematological and clinical phenotypes. The genetic, immunological, and clinical features of GATA2-deficient patients with mycobacterial diseases in the familial context remain largely unknown.<h4>Methods</h4>We enrolled 15 GATA2 index cases referred for mycobacterial disease. We describe their genetic and clinical features including their relatives.<h4>Results</h4>We identified 12 heterozygous GATA2 mutations, two of which had not been reported. Eight of these mutations were loss-of-function, and four were hypomorphic. None was dominant-negative in vitro, and the GATA2 locus was found to be subject to purifying selection, strongly suggesting a mechanism of haploinsufficiency. Three relatives of index cases had m","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Apr","modification":"2025-04-04T12:41:06.971Z","creation":"2025-04-04T12:41:06.971Z"},"accession":"S-EPMC8938944","cross_references":{"pubmed":["33417088"],"doi":["10.1007/s10875-020-00930-3"]}}