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Literature DB >> 23728141

MonoMAC syndrome in a patient with a GATA2 mutation: case report and review of the literature.

Jose F Camargo¹, Stephen A Lobo, Amy P Hsu, Christa S Zerbe, Gary P Wormser, Steven M Holland.

Abstract

We report a case of MonoMAC syndrome in a patient with a GATA2 mutation and discuss the manifestations, diagnosis, and treatment of this novel immunodeficiency disorder.

Entities: Disease Gene Species

Keywords: GATA2; MonoMAC; immunodeficiency; monocytopenia; mycobacterial infection

Mesh：

Substances：

Year: 2013 PMID： 23728141 PMCID： PMC3739466 DOI： 10.1093/cid/cit368

Source DB: PubMed Journal: Clin Infect Dis ISSN： 1058-4838 Impact factor: 9.079

12 in total

1. Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.

Authors: Jan Kazenwadel; Genevieve A Secker; Yajuan J Liu; Jill A Rosenfeld; Robert S Wildin; Jennifer Cuellar-Rodriguez; Amy P Hsu; Sarah Dyack; Conrad V Fernandez; Chan-Eng Chong; Milena Babic; Peter G Bardy; Akiko Shimamura; Michael Y Zhang; Tom Walsh; Steven M Holland; Dennis D Hickstein; Marshall S Horwitz; Christopher N Hahn; Hamish S Scott; Natasha L Harvey
Journal: Blood Date: 2011-12-06 Impact factor: 22.113

2. MonoMAC versus idiopathic CD4+ lymphocytopenia. Comment to Haematologica. 2011;96(8):1221-5.

Authors: Vicki H Chu; Jonathan L Curry; M Tarek Elghetany; Choladda V Curry
Journal: Haematologica Date: 2012-04 Impact factor: 9.941

3. Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency.

Authors: Jennifer Cuellar-Rodriguez; Juan Gea-Banacloche; Alexandra F Freeman; Amy P Hsu; Christa S Zerbe; Katherine R Calvo; Jennifer Wilder; Roger Kurlander; Kenneth N Olivier; Steven M Holland; Dennis D Hickstein
Journal: Blood Date: 2011-08-03 Impact factor: 22.113

4. Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications.

Authors: Katherine R Calvo; Donald C Vinh; Irina Maric; Weixin Wang; Pierre Noel; Maryalice Stetler-Stevenson; Diane C Arthur; Mark Raffeld; Amalia Dutra; Evgenia Pak; Kyungjae Myung; Amy P Hsu; Dennis D Hickstein; Stefania Pittaluga; Steven M Holland
Journal: Haematologica Date: 2011-04-20 Impact factor: 9.941

5. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Authors: Amy P Hsu; Elizabeth P Sampaio; Javed Khan; Katherine R Calvo; Jacob E Lemieux; Smita Y Patel; David M Frucht; Donald C Vinh; Roger D Auth; Alexandra F Freeman; Kenneth N Olivier; Gulbu Uzel; Christa S Zerbe; Christine Spalding; Stefania Pittaluga; Mark Raffeld; Douglas B Kuhns; Li Ding; Michelle L Paulson; Beatriz E Marciano; Juan C Gea-Banacloche; Jordan S Orange; Jennifer Cuellar-Rodriguez; Dennis D Hickstein; Steven M Holland
Journal: Blood Date: 2011-06-13 Impact factor: 22.113

6. GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia.

Authors: Hiroyuki Ishida; Kosuke Imai; Kenichi Honma; Shin-Ichi Tamura; Toshihiko Imamura; Masafumi Ito; Shigeaki Nonoyama
Journal: Eur J Pediatr Date: 2012-03-21 Impact factor: 3.183

7. Sibling cases of Mycobacterium avium complex disease associated with hematological disease.

Authors: Yoshihiro Kobashi; Kouichiro Yoshida; Yoshihito Niki; Mikio Oka
Journal: J Infect Chemother Date: 2006-11-06 Impact factor: 2.211

Review 8. Opportunistic infections in patients with pulmonary alveolar proteinosis.

Authors: Ankit D Punatar; Shimon Kusne; Janis E Blair; M Teresa Seville; Holenarasipur R Vikram
Journal: J Infect Date: 2012-04-04 Impact factor: 6.072

9. Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia.

Authors: Donald C Vinh; Smita Y Patel; Gulbu Uzel; Victoria L Anderson; Alexandra F Freeman; Kenneth N Olivier; Christine Spalding; Stephen Hughes; Stefania Pittaluga; Mark Raffeld; Lynn R Sorbara; Houda Z Elloumi; Douglas B Kuhns; Maria L Turner; Edward W Cowen; Danielle Fink; Debra Long-Priel; Amy P Hsu; Li Ding; Michelle L Paulson; Adeline R Whitney; Elizabeth P Sampaio; David M Frucht; Frank R DeLeo; Steven M Holland
Journal: Blood Date: 2009-12-29 Impact factor: 22.113

10. The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency.

Authors: Venetia Bigley; Muzlifah Haniffa; Sergei Doulatov; Xiao-Nong Wang; Rachel Dickinson; Naomi McGovern; Laura Jardine; Sarah Pagan; Ian Dimmick; Ignatius Chua; Jonathan Wallis; Jim Lordan; Cliff Morgan; Dinakantha S Kumararatne; Rainer Doffinger; Mirjam van der Burg; Jacques van Dongen; Andrew Cant; John E Dick; Sophie Hambleton; Matthew Collin
Journal: J Exp Med Date: 2011-01-17 Impact factor: 14.307

31 in total

1. Association of GATA2 Deficiency With Severe Primary Epstein-Barr Virus (EBV) Infection and EBV-associated Cancers.

Authors: Jeffrey I Cohen; Lesia Dropulic; Amy P Hsu; Christa S Zerbe; Tammy Krogmann; Kennichi Dowdell; Ronald L Hornung; Jana Lovell; Nancy Hardy; Dennis Hickstein; Edward W Cowen; Katherine R Calvo; Stefania Pittaluga; Steven M Holland
Journal: Clin Infect Dis Date: 2016-05-11 Impact factor: 9.079

2. Resolution of Multifocal Epstein-Barr Virus-Related Smooth Muscle Tumor in a Patient with GATA2 Deficiency Following Hematopoietic Stem Cell Transplantation.

Authors: Mark Parta; Jennifer Cuellar-Rodriguez; Alexandra F Freeman; Juan Gea-Banacloche; Steven M Holland; Dennis D Hickstein
Journal: J Clin Immunol Date: 2016-12-06 Impact factor: 8.317

3. A woman with warts, leg swelling, and deafness.

Authors: Melissa A Muszynski; Christa S Zerbe; Steven M Holland; Heidi H Kong
Journal: J Am Acad Dermatol Date: 2014-09 Impact factor: 11.527

4. A Novel Anti-LILRB4 CAR-T Cell for the Treatment of Monocytic AML.

Authors: Samuel John; Heyu Chen; Mi Deng; Xun Gui; Guojin Wu; Weina Chen; Zunling Li; Ningyan Zhang; Zhiqiang An; Cheng Cheng Zhang
Journal: Mol Ther Date: 2018-08-07 Impact factor: 11.454

Review 5. Modeling Human Bone Marrow Failure Syndromes Using Pluripotent Stem Cells and Genome Engineering.

Authors: Moonjung Jung; Cynthia E Dunbar; Thomas Winkler
Journal: Mol Ther Date: 2015-10-05 Impact factor: 11.454

Review 6. Host genetics of invasive Aspergillus and Candida infections.

Authors: Agnieszka Wójtowicz; Pierre-Yves Bochud
Journal: Semin Immunopathol Date: 2014-11-18 Impact factor: 9.623

7. MonoMAC Syndrome Caused by a Novel GATA2 Mutation Successfully Treated by Allogeneic Hematopoietic Stem Cell Transplantation.

Authors: Maria Francisca Moraes-Fontes; Íris Caramalho; Amy P Hsu; Steven M Holland; Manuel Abecasis
Journal: J Clin Immunol Date: 2018-11-26 Impact factor: 8.317

Review 8. Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.

Authors: Jacinta Bustamante; Stéphanie Boisson-Dupuis; Laurent Abel; Jean-Laurent Casanova
Journal: Semin Immunol Date: 2014-10-26 Impact factor: 11.130

Review 9. Primary immunodeficiency update: Part II. Syndromes associated with mucocutaneous candidiasis and noninfectious cutaneous manifestations.

Authors: Dominique C Pichard; Alexandra F Freeman; Edward W Cowen
Journal: J Am Acad Dermatol Date: 2015-09 Impact factor: 11.527

Review 10. A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections.

Authors: Un-In Wu; Steven M Holland
Journal: Semin Immunopathol Date: 2016-01-05 Impact factor: 9.623