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

Saved in:
Bibliographic Details
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
FullText Links:
  – Type: pdflink
Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 33417088
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Oleaga-Quintas+C%22">Oleaga-Quintas C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22de+Oliveira-Júnior+EB%22">de Oliveira-Júnior EB</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Rosain+J%22">Rosain J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Rapaport+F%22">Rapaport F</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Deswarte+C%22">Deswarte C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Guérin+A%22">Guérin A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Sajjath+SM%22">Sajjath SM</searchLink>; Department of Microbiology and Immunology, Columbia University Medical Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Zhou+YJ%22">Zhou YJ</searchLink>; Department of Microbiology and Immunology, Columbia University Medical Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Marot+S%22">Marot S</searchLink>; Center for the Study of Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lozano+C%22">Lozano C</searchLink>; Center for the Study of Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France.<br /><searchLink fieldCode="AU" term="%22Branco+L%22">Branco L</searchLink>; Department of Immunology, Porto Hospital Center, Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Fernández-Hidalgo+N%22">Fernández-Hidalgo N</searchLink>; Service of Infectious Diseases, University Hospital Vall d'Hebron, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Lew+DB%22">Lew DB</searchLink>; The Children's Foundation Research Center and Department of Pediatrics, College of Medicine, University of Tennessee, Memphis, TN, USA.<br /><searchLink fieldCode="AU" term="%22Brunel+AS%22">Brunel AS</searchLink>; Infectious Diseases Unit, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Thomas+C%22">Thomas C</searchLink>; Pediatric Oncology and Hematology, University Hospital of Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Launay+E%22">Launay E</searchLink>; Pediatric Oncology and Hematology, University Hospital of Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Arias+AA%22">Arias AA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Cuffel+A%22">Cuffel A</searchLink>; Center for the Study of Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France.<br /><searchLink fieldCode="AU" term="%22Monjo+VC%22">Monjo VC</searchLink>; Department of Immunology, Son Espases Hospital, Palma de Mallorca, Spain.<br /><searchLink fieldCode="AU" term="%22Neehus+AL%22">Neehus AL</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Marques+L%22">Marques L</searchLink>; Department of Pediatrics, Porto Hospital Center, Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Roynard+M%22">Roynard M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Moncada-Vélez+M%22">Moncada-Vélez M</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Gerçeker+B%22">Gerçeker B</searchLink>; Department of Dermatology, Ege University Medical Faculty, İzmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Colobran+R%22">Colobran R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Vigué+MG%22">Vigué MG</searchLink>; Infectious Diseases Unit, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Lopez-Herrera+G%22">Lopez-Herrera G</searchLink>; Immunodeficiencies Research Unit at the National Institute of Pediatrics, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Berron-Ruiz+L%22">Berron-Ruiz L</searchLink>; Immunodeficiencies Research Unit at the National Institute of Pediatrics, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Méndez+NHS%22">Méndez NHS</searchLink>; Allergy and Clinical Immunology Service at the XXI Century National Medical Center, Mexican Institute of Social Security (IMSS), Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22O'Farrill+Romanillos+P%22">O'Farrill Romanillos P</searchLink>; Allergy and Clinical Immunology Service at the XXI Century National Medical Center, Mexican Institute of Social Security (IMSS), Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Le+Voyer+T%22">Le Voyer T</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Puel+A%22">Puel A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bellanné-Chantelot+C%22">Bellanné-Chantelot C</searchLink>; Department of Genetics, DMU BioGeM, Pitié Salpetrière Hospital, AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Ramirez+KA%22">Ramirez KA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lorenzo-Diaz+L%22">Lorenzo-Diaz L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Alejo+NR%22">Alejo NR</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22de+Diego+RP%22">de Diego RP</searchLink>; Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Condino-Neto+A%22">Condino-Neto A</searchLink>; Department of Immunology, Institute of Biomedical Sciences, University of Sao Paulo, Sao Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Mellouli+F%22">Mellouli F</searchLink>; National Center for Bone Marrow Grafts, Tunis Faculty of Medicine, University of Tunis El Manar, Tunis, Tunisia.<br /><searchLink fieldCode="AU" term="%22Rodriguez-Gallego+C%22">Rodriguez-Gallego C</searchLink>; Department of Immunology, Gran Canaria Dr. Negrin University Hospital, Las Palmas de Gran Canaria, Spain.<br /><searchLink fieldCode="AU" term="%22Witte+T%22">Witte T</searchLink>; Clinic of Immunology and Rheumatology, Medical School of Hannover, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Restrepo+JF%22">Restrepo JF</searchLink>; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UdeA, Medellin, Colombia.<br /><searchLink fieldCode="AU" term="%22Jobim+M%22">Jobim M</searchLink>; Department of Immunology, Clinicas Hospital of Porto Alegre, Porto Alegre, RS, Brazil.<br /><searchLink fieldCode="AU" term="%22Boisson-Dupuis+S%22">Boisson-Dupuis S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Jeziorski+E%22">Jeziorski E</searchLink>; Department of Pediatrics, Infectious Diseases and Immunology, CHU Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Fieschi+C%22">Fieschi C</searchLink>; Department of Hematology and Internal Medicine, Saint Louis Hospital, AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Vogt+G%22">Vogt G</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Donadieu+J%22">Donadieu J</searchLink>; Department of Pediatric Hematology and Oncology, Trousseau Hospital, AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Pasquet+M%22">Pasquet M</searchLink>; Department of Pediatric Hematology and Immunology, CHU Toulouse, Toulouse, France.; Center of Research in Cancerology, INSERM U1037, Team 16, IUCT-Oncopole, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Vasconcelos+J%22">Vasconcelos J</searchLink>; Department of Immunology, Porto Hospital Center, Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Ardeniz+FO%22">Ardeniz FO</searchLink>; Internal Medicine Allergy and Clinical Immunology, Medical School of Ege, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Martínez-Gallo+M%22">Martínez-Gallo M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Campos+RA%22">Campos RA</searchLink>; Department of Allergy and Clinical Immunology, Medical School, Federal University of Bahia, Salvador, BA, Brazil.<br /><searchLink fieldCode="AU" term="%22Jobim+LF%22">Jobim LF</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Martínez-Barricarte+R%22">Martínez-Barricarte R</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Liu+K%22">Liu K</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Cobat+A%22">Cobat A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Abel+L%22">Abel L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Casanova+JL%22">Casanova JL</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bustamante+J%22">Bustamante J</searchLink>; 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.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%228102137%22">Journal of clinical immunology</searchLink> [J Clin Immunol] 2021 Apr; Vol. 41 (3), pp. 639-657. <i>Date of Electronic Publication: </i>2021 Jan 08.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer%22">Springer </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>8102137 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-2592 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2202719142%22">02719142 </searchLink><i>NLM ISO Abbreviation: </i>J Clin Immunol <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=33417088
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1007/s10875-020-00930-3
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 639
    Titles:
      – TitleFull: Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Oleaga-Quintas C
      – PersonEntity:
          Name:
            NameFull: de Oliveira-Júnior EB
      – PersonEntity:
          Name:
            NameFull: Rosain J
      – PersonEntity:
          Name:
            NameFull: Rapaport F
      – PersonEntity:
          Name:
            NameFull: Deswarte C
      – PersonEntity:
          Name:
            NameFull: Guérin A
      – PersonEntity:
          Name:
            NameFull: Sajjath SM
      – PersonEntity:
          Name:
            NameFull: Zhou YJ
      – PersonEntity:
          Name:
            NameFull: Marot S
      – PersonEntity:
          Name:
            NameFull: Lozano C
      – PersonEntity:
          Name:
            NameFull: Branco L
      – PersonEntity:
          Name:
            NameFull: Fernández-Hidalgo N
      – PersonEntity:
          Name:
            NameFull: Lew DB
      – PersonEntity:
          Name:
            NameFull: Brunel AS
      – PersonEntity:
          Name:
            NameFull: Thomas C
      – PersonEntity:
          Name:
            NameFull: Launay E
      – PersonEntity:
          Name:
            NameFull: Arias AA
      – PersonEntity:
          Name:
            NameFull: Cuffel A
      – PersonEntity:
          Name:
            NameFull: Monjo VC
      – PersonEntity:
          Name:
            NameFull: Neehus AL
      – PersonEntity:
          Name:
            NameFull: Marques L
      – PersonEntity:
          Name:
            NameFull: Roynard M
      – PersonEntity:
          Name:
            NameFull: Moncada-Vélez M
      – PersonEntity:
          Name:
            NameFull: Gerçeker B
      – PersonEntity:
          Name:
            NameFull: Colobran R
      – PersonEntity:
          Name:
            NameFull: Vigué MG
      – PersonEntity:
          Name:
            NameFull: Lopez-Herrera G
      – PersonEntity:
          Name:
            NameFull: Berron-Ruiz L
      – PersonEntity:
          Name:
            NameFull: Méndez NHS
      – PersonEntity:
          Name:
            NameFull: O'Farrill Romanillos P
      – PersonEntity:
          Name:
            NameFull: Le Voyer T
      – PersonEntity:
          Name:
            NameFull: Puel A
      – PersonEntity:
          Name:
            NameFull: Bellanné-Chantelot C
      – PersonEntity:
          Name:
            NameFull: Ramirez KA
      – PersonEntity:
          Name:
            NameFull: Lorenzo-Diaz L
      – PersonEntity:
          Name:
            NameFull: Alejo NR
      – PersonEntity:
          Name:
            NameFull: de Diego RP
      – PersonEntity:
          Name:
            NameFull: Condino-Neto A
      – PersonEntity:
          Name:
            NameFull: Mellouli F
      – PersonEntity:
          Name:
            NameFull: Rodriguez-Gallego C
      – PersonEntity:
          Name:
            NameFull: Witte T
      – PersonEntity:
          Name:
            NameFull: Restrepo JF
      – PersonEntity:
          Name:
            NameFull: Jobim M
      – PersonEntity:
          Name:
            NameFull: Boisson-Dupuis S
      – PersonEntity:
          Name:
            NameFull: Jeziorski E
      – PersonEntity:
          Name:
            NameFull: Fieschi C
      – PersonEntity:
          Name:
            NameFull: Vogt G
      – PersonEntity:
          Name:
            NameFull: Donadieu J
      – PersonEntity:
          Name:
            NameFull: Pasquet M
      – PersonEntity:
          Name:
            NameFull: Vasconcelos J
      – PersonEntity:
          Name:
            NameFull: Ardeniz FO
      – PersonEntity:
          Name:
            NameFull: Martínez-Gallo M
      – PersonEntity:
          Name:
            NameFull: Campos RA
      – PersonEntity:
          Name:
            NameFull: Jobim LF
      – PersonEntity:
          Name:
            NameFull: Martínez-Barricarte R
      – PersonEntity:
          Name:
            NameFull: Liu K
      – PersonEntity:
          Name:
            NameFull: Cobat A
      – PersonEntity:
          Name:
            NameFull: Abel L
      – PersonEntity:
          Name:
            NameFull: Casanova JL
      – PersonEntity:
          Name:
            NameFull: Bustamante J
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 04
              Text: 2021 Apr
              Type: published
              Y: 2021
          Identifiers:
            – Type: issn-electronic
              Value: 1573-2592
          Numbering:
            – Type: volume
              Value: 41
            – Type: issue
              Value: 3
          Titles:
            – TitleFull: Journal of clinical immunology
              Type: main
ResultId 1