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

Carmen OleagaQuintas | Zendy; Edgar Borges de Oliveira-Júnior | Zendy; Jérémie Rosain | Zendy; Franck Rapaport | Zendy; Caroline Deswarte | Zendy; Antoine Guérin | Zendy; Sairaj Munavar Sajjath | Zendy; Yu Zhou | Zendy; Stéphane Marot | Zendy; Claire Lozano | Zendy; Lídia Branco | Zendy; Núria Fernández-Hidalgo | Zendy; D. Betty Lew | Zendy; Anne-Sophie Brunel | Zendy; Caroline Thomas | Zendy; É. Launay | Zendy; Andrés A. Arias | Zendy; Alexis Cuffel | Zendy; Vanesa Cunill Monjo | Zendy; AnnaLeeehus | Zendy; Lino Marques | Zendy; Ma Roynard | Zendy; Marcela MoncadaVélez | Zendy; Bengü Gerçeker | Zendy; Roger Colobrán | Zendy; Marie-Gabrielle Vigué | Zendy; Gabriela LópezHerrera | Zendy; Laura BerrónRuiz | Zendy; Nora Hilda Segura Méndez | Zendy; Patricia María O’Farrill-Romanillos | Zendy; Tom Le Voyer | Zendy; Anne Puel | Zendy; Christine BellannéChantelot | Zendy; Kacy A. Ramirez | Zendy; Lazaro Lorenzo | Zendy; Noé Ramirez Alejo | Zendy; Rebeca Pérez de Diego | Zendy; Antônio CondinoNeto | Zendy; Fethi Mellouli | Zendy; Carlos RodríguezGallego | Zendy; Torsten Witte | Zendy; José Luis Franco | Zendy; Mariana Jobim | Zendy; Stéphanie BoissonDupuis | Zendy; Éric Jeziorski | Zendy; Claire Fieschi | Zendy; Guillaume Vogt | Zendy; Jean Donadieu | Zendy; Marlène Pasquet | Zendy; Júlia Vasconcelos | Zendy; F. Ömür Ardeniz | Zendy; Mónica MartínezGallo | Zendy; Régis A. Campos | Zendy; Luiz Fernando Job Jobim | Zendy; Rubén MartínezBarricarte | Zendy; Kang Liu | Zendy; Aurélie Cobat | Zendy; Laurent Abel | Zendy; JeanLaurent Casanova | Zendy; Jacinta Bustamante | Zendy

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

Author(s) -

Carmen OleagaQuintas,

Edgar Borges de Oliveira-Júnior,

Jérémie Rosain,

Franck Rapaport,

Caroline Deswarte,

Antoine Guérin,

Sairaj Munavar Sajjath,

Yu Zhou,

Stéphane Marot,

Claire Lozano,

Lídia Branco,

Núria Fernández-Hidalgo,

D. Betty Lew,

Anne-Sophie Brunel,

Caroline Thomas,

É. Launay,

Andrés A. Arias,

Alexis Cuffel,

Vanesa Cunill Monjo,

AnnaLeeehus,

Lino Marques,

Ma Roynard,

Marcela MoncadaVélez,

Bengü Gerçeker,

Roger Colobrán,

Marie-Gabrielle Vigué,

Gabriela LópezHerrera,

Laura BerrónRuiz,

Nora Hilda Segura Méndez,

Patricia María O’Farrill-Romanillos,

Tom Le Voyer,

Anne Puel,

Christine BellannéChantelot,

Kacy A. Ramirez,

Lazaro Lorenzo,

Noé Ramirez Alejo,

Rebeca Pérez de Diego,

Antônio CondinoNeto,

Fethi Mellouli,

Carlos RodríguezGallego,

Torsten Witte,

José Luis Franco,

Mariana Jobim,

Stéphanie BoissonDupuis,

Éric Jeziorski,

Claire Fieschi,

Guillaume Vogt,

Jean Donadieu,

Marlène Pasquet,

Júlia Vasconcelos,

F. Ömür Ardeniz,

Mónica MartínezGallo,

Régis A. Campos,

Luiz Fernando Job Jobim,

Rubén MartínezBarricarte,

Kang Liu,

Aurélie Cobat,

Laurent Abel,

JeanLaurent Casanova,

Jacinta Bustamante

Publication year - 2021

Publication title -

journal of clinical immunology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.739

H-Index - 96

eISSN - 1573-2592

pISSN - 0271-9142

DOI - 10.1007/s10875-020-00930-3

Subject(s) - penetrance , haploinsufficiency , primary immunodeficiency , genetics , biology , bronchiectasis , germline mutation , medicine , immunology , mutation , phenotype , gene , immune system , lung

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.

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