Literature DB >> 27894982

Multiple Opportunistic Infections in a Woman with GATA2 Mutation.

Andrea Vila1, Juan I Dapás2, Cynthia V Rivero2, Florencia Bocanegra3, Roberto F Furnari3, Amy P Hsu4, Steven M Holland4.   

Abstract

GATA2 deficiency is a genetic disorder caused by inherited or sporadic haploinsufficient mutations in the GATA2 gene. Patients have abnormalities in hematopoiesis, lymphangiogenesis and immunity; encompassing a broad range of clinical syndromes, mainly characterized by monocytopenia, B and NK cell cytopenia, severe or recurrent infections, and a high risk of developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). We report a case of an Argentinean woman who presented with multiple opportunistic infections as her first manifestation of GATA2 deficiency.
Copyright © 2016 The Author(s). Published by Elsevier Ltd.. All rights reserved.

Entities:  

Keywords:  GATA2 deficiency; GATA2 mutation; MonoMAC syndrome; monocytopenia

Mesh：

Substances：

Year:  2016        PMID： 27894982     DOI： 10.1016/j.ijid.2016.11.408

Source DB:  PubMed          Journal:  Int J Infect Dis        ISSN： 1201-9712            Impact factor:   3.623


  6 in total

Review 1.  Germline GATA2 Mutation and Bone Marrow Failure.

Authors:  Lisa J McReynolds; Katherine R Calvo; Steven M Holland
Journal:  Hematol Oncol Clin North Am       Date:  2018-05-28       Impact factor: 3.722

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

Authors:  Edgar Borges de Oliveira-Júnior; Jérémie Rosain; Franck Rapaport; Caroline Deswarte; Antoine Guérin; Sairaj Munavar Sajjath; Yu Jerry Zhou; Stéphane Marot; Claire Lozano; Aurélie Cobat; Laurent Abel; Jean-Laurent Casanova; Carmen Oleaga-Quintas; Lidia Branco; Nuria Fernández-Hidalgo; Dukhee Betty Lew; Anne-Sophie Brunel; Caroline Thomas; Elise Launay; Andrés Augusto Arias; Alexis Cuffel; Vanesa Cunill Monjo; Anna-Lena Neehus; Laura Marques; Manon Roynard; Marcela Moncada-Vélez; Bengü Gerçeker; Roger Colobran; Marie-Gabrielle Vigué; Gabriela Lopez-Herrera; Laura Berron-Ruiz; Nora Hilda Segura Méndez; Patricia O'Farrill Romanillos; Tom Le Voyer; Anne Puel; Christine Bellanné-Chantelot; Kacy A Ramirez; Lazaro Lorenzo-Diaz; Noé Ramirez Alejo; Rebeca Pérez de Diego; Antonio Condino-Neto; Fethi Mellouli; Carlos Rodriguez-Gallego; Torsten Witte; José Franco Restrepo; Mariana Jobim; Stéphanie Boisson-Dupuis; Eric Jeziorski; Claire Fieschi; Guillaume Vogt; Jean Donadieu; Marlène Pasquet; Julia Vasconcelos; Fatma Omur Ardeniz; Mónica Martínez-Gallo; Regis A Campos; Luiz Fernando Jobim; Rubén Martínez-Barricarte; Kang Liu; Jacinta Bustamante
Journal:  J Clin Immunol       Date:  2021-01-08       Impact factor: 8.317

3.  Use caution interpreting nasal nitric oxide: Overlap in primary ciliary dyskinesia and primary immunodeficiency.

Authors:  Andrew T Barber; Stephanie D Davis; Hannah Boutros; Maimoona Zariwala; Michael R Knowles; Margaret W Leigh
Journal:  Pediatr Pulmonol       Date:  2021-09-02

Review 4.  Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.

Authors:  Cristiane de Jesus Nunes-Santos; Sergio D Rosenzweig
Journal:  Front Immunol       Date:  2018-06-22       Impact factor: 7.561

Review 5.  Definition of Opportunistic Infections in Immunocompromised Children on the Basis of Etiologies and Clinical Features: A Summary for Practical Purposes.

Authors:  Niccolò Riccardi; Gioacchino Andrea Rotulo; Elio Castagnola
Journal:  Curr Pediatr Rev       Date:  2019

6.  Diagnosing MonoMAC Syndrome in GATA2 Germline Mutated Myelodysplastic Syndrome via Next-Generation Sequencing in a Patient with Refractory and Complex Infection: Case Report and Literature Review.

Authors:  Yingying Shen; Yuzhu Li; Hangchao Li; Qi Liu; Huijie Dong; Bo Wang; Baodong Ye; Shenyun Lin; Yiping Shen; Dijiong Wu
Journal:  Infect Drug Resist       Date:  2021-04-06       Impact factor: 4.003
  6 in total

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