Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.

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Title: Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.
Authors: Oleaga-Quintas C; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, 24 Boulevard du Montparnasse, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Department of Immunology, School of Medicine, Complutense University, Madrid, Spain., de Oliveira-Júnior EB; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, 24 Boulevard du Montparnasse, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Department of Immunology, Institute of Biomedical Sciences, University of Sao Paulo, Sao Paulo, SP, Brazil., Rosain J; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, 24 Boulevard du Montparnasse, Paris, France.; University of Paris, Imagine Institute, Paris, France., Rapaport F; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Deswarte C; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, 24 Boulevard du Montparnasse, Paris, France.; University of Paris, Imagine Institute, Paris, France., Guérin A; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, 24 Boulevard du Montparnasse, Paris, France.; University of Paris, Imagine Institute, Paris, France., Sajjath SM; Department of Microbiology and Immunology, Columbia University Medical Center, New York, NY, USA., Zhou YJ; Department of Microbiology and Immunology, Columbia University Medical Center, New York, NY, USA., Marot S; Center for the Study of Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France., Lozano C; Center for the Study of Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France., Branco L; Department of Immunology, Porto Hospital Center, Porto, Portugal., Fernández-Hidalgo N; Service of Infectious Diseases, University Hospital Vall d'Hebron, Barcelona, Spain., Lew DB; The Children's Foundation Research Center and Department of Pediatrics, College of Medicine, University of Tennessee, Memphis, TN, USA., Brunel AS; Infectious Diseases Unit, Montpellier, France., Thomas C; Pediatric Oncology and Hematology, University Hospital of Nantes, Nantes, France., Launay E; Pediatric Oncology and Hematology, University Hospital of Nantes, Nantes, France., Arias AA; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UdeA, Medellin, Colombia.; School of Microbiology, University of Antioquia UdeA, Medellin, Colombia., Cuffel A; Center for the Study of Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France., Monjo VC; Department of Immunology, Son Espases Hospital, Palma de Mallorca, Spain., Neehus AL; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, 24 Boulevard du Montparnasse, Paris, France.; University of Paris, Imagine Institute, Paris, France., Marques L; Department of Pediatrics, Porto Hospital Center, Porto, Portugal., Roynard M; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, 24 Boulevard du Montparnasse, Paris, France.; University of Paris, Imagine Institute, Paris, France., Moncada-Vélez M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Gerçeker B; Department of Dermatology, Ege University Medical Faculty, İzmir, Turkey., Colobran R; Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Jeffrey Model Foundation Excellence Center, Barcelona, Spain.; Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Barcelona, Spain.; Area of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain., Vigué MG; Infectious Diseases Unit, Montpellier, France., Lopez-Herrera G; Immunodeficiencies Research Unit at the National Institute of Pediatrics, Mexico City, Mexico., Berron-Ruiz L; Immunodeficiencies Research Unit at the National Institute of Pediatrics, Mexico City, Mexico., Méndez NHS; Allergy and Clinical Immunology Service at the XXI Century National Medical Center, Mexican Institute of Social Security (IMSS), Mexico City, Mexico., O'Farrill Romanillos P; Allergy and Clinical Immunology Service at the XXI Century National Medical Center, Mexican Institute of Social Security (IMSS), Mexico City, Mexico., Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, 24 Boulevard du Montparnasse, Paris, France.; University of Paris, Imagine Institute, Paris, France., Puel A; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, 24 Boulevard du Montparnasse, Paris, France.; University of Paris, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Bellanné-Chantelot C; Department of Genetics, DMU BioGeM, Pitié Salpetrière Hospital, AP-HP, Paris, France., Ramirez KA; The Children's Foundation Research Center and Department of Pediatrics, College of Medicine, University of Tennessee, Memphis, TN, USA.; St Jude Children's Research Hospital, 262 Danny Thomas Place, IRC Room E8061 Mail Stop 320, Memphis, TN, 38105, USA.; LeBonheur Children's Hospital, West Patient Tower, Rm 433, Memphis, TN, 38103, USA., Lorenzo-Diaz L; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, 24 Boulevard du Montparnasse, Paris, France.; University of Paris, Imagine Institute, Paris, France., Alejo NR; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., de Diego RP; Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain., Condino-Neto A; Department of Immunology, Institute of Biomedical Sciences, University of Sao Paulo, Sao Paulo, SP, Brazil., Mellouli F; National Center for Bone Marrow Grafts, Tunis Faculty of Medicine, University of Tunis El Manar, Tunis, Tunisia., Rodriguez-Gallego C; Department of Immunology, Gran Canaria Dr. Negrin University Hospital, Las Palmas de Gran Canaria, Spain., Witte T; Clinic of Immunology and Rheumatology, Medical School of Hannover, Hannover, Germany., Restrepo JF; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UdeA, Medellin, Colombia., Jobim M; Department of Immunology, Clinicas Hospital of Porto Alegre, Porto Alegre, RS, Brazil., Boisson-Dupuis S; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, 24 Boulevard du Montparnasse, Paris, France.; University of Paris, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Jeziorski E; Department of Pediatrics, Infectious Diseases and Immunology, CHU Montpellier, Montpellier, France., Fieschi C; Department of Hematology and Internal Medicine, Saint Louis Hospital, AP-HP, Paris, France., Vogt G; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, 24 Boulevard du Montparnasse, Paris, France.; University of Paris, Imagine Institute, Paris, France., Donadieu J; Department of Pediatric Hematology and Oncology, Trousseau Hospital, AP-HP, Paris, France., Pasquet M; Department of Pediatric Hematology and Immunology, CHU Toulouse, Toulouse, France.; Center of Research in Cancerology, INSERM U1037, Team 16, IUCT-Oncopole, Toulouse, France., Vasconcelos J; Department of Immunology, Porto Hospital Center, Porto, Portugal., Ardeniz FO; Internal Medicine Allergy and Clinical Immunology, Medical School of Ege, Izmir, Turkey., Martínez-Gallo M; Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Jeffrey Model Foundation Excellence Center, Barcelona, Spain.; Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Barcelona, Spain., Campos RA; Department of Allergy and Clinical Immunology, Medical School, Federal University of Bahia, Salvador, BA, Brazil., Jobim LF; Department of Immunology, Clinicas Hospital of Porto Alegre, Porto Alegre, RS, Brazil.; Department of Internal Medicine, School of Medicine, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil., Martínez-Barricarte R; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Liu K; Department of Microbiology and Immunology, Columbia University Medical Center, New York, NY, USA.; Department of Cancer Immunology and Immune Modulation, Boehringer Ingelheim Pharmaceuticals, Ridgefield, CT, USA., Cobat A; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, 24 Boulevard du Montparnasse, Paris, France.; University of Paris, Imagine Institute, Paris, France., Abel L; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, 24 Boulevard du Montparnasse, Paris, France.; University of Paris, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, 24 Boulevard du Montparnasse, Paris, France.; University of Paris, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France.; Howard Hughes Medical Institute, New York, NY, USA., Bustamante J; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, 24 Boulevard du Montparnasse, Paris, France. jacinta.bustamante@inserm.fr.; University of Paris, Imagine Institute, Paris, France. jacinta.bustamante@inserm.fr.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. jacinta.bustamante@inserm.fr.; Center for the Study of Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France. jacinta.bustamante@inserm.fr.
Source: Journal of clinical immunology [J Clin Immunol] 2021 Apr; Vol. 41 (3), pp. 639-657. Date of Electronic Publication: 2021 Jan 08.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1573-2592
DOI:10.1007/s10875-020-00930-3