Literature DB >> 25739845

Rheumatologic manifestations of the "MonoMAC" syndrome. a systematic review.

Jennifer A Johnson1, Steven S Yu, Michael Elist, Daniel Arkfeld, Richard S Panush.   

Abstract

MonoMAC syndrome is characterized by monocytopenia with susceptibility to nontuberculous mycobacterial infections. First recognized in 2011, it is caused by GATA2 mutations and can manifest as disseminated mycobacterial, fungal, and viral infections. While mortality rates for this disorder have been high, it has recently been successfully treated with haploidentical allogeneic stem cell transplant. Since approximately one third of patients may have rheumatologic symptoms, such as erythema nodosum, panniculitis, or arthralgias, rheumatologists may expect to encounter this newly described entity with increasing frequency.

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Year:  2015        PMID: 25739845     DOI: 10.1007/s10067-015-2905-2

Source DB:  PubMed          Journal:  Clin Rheumatol        ISSN: 0770-3198            Impact factor:   2.980


  10 in total

Review 1.  MonoMAC syndrome in a patient with a GATA2 mutation: case report and review of the literature.

Authors:  Jose F Camargo; Stephen A Lobo; Amy P Hsu; Christa S Zerbe; Gary P Wormser; Steven M Holland
Journal:  Clin Infect Dis       Date:  2013-05-31       Impact factor: 9.079

2.  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

3.  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

4.  Dendritic cell, monocyte, B and NK lymphoid deficiency defines the lost lineages of a new GATA-2 dependent myelodysplastic syndrome.

Authors:  Venetia Bigley; Matthew Collin
Journal:  Haematologica       Date:  2011-08       Impact factor: 9.941

5.  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

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.  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

8.  GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.

Authors:  Michael A Spinner; Lauren A Sanchez; Amy P Hsu; Pamela A Shaw; Christa S Zerbe; Katherine R Calvo; Diane C Arthur; Wenjuan Gu; Christine M Gould; Carmen C Brewer; Edward W Cowen; Alexandra F Freeman; Kenneth N Olivier; Gulbu Uzel; Adrian M Zelazny; Janine R Daub; Christine D Spalding; Reginald J Claypool; Neelam K Giri; Blanche P Alter; Emily M Mace; Jordan S Orange; Jennifer Cuellar-Rodriguez; Dennis D Hickstein; Steven M Holland
Journal:  Blood       Date:  2013-11-13       Impact factor: 22.113

9.  Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

Authors:  Rachel Emma Dickinson; Helen Griffin; Venetia Bigley; Louise N Reynard; Rafiqul Hussain; Muzlifah Haniffa; Jeremy H Lakey; Thahira Rahman; Xiao-Nong Wang; Naomi McGovern; Sarah Pagan; Sharon Cookson; David McDonald; Ignatius Chua; Jonathan Wallis; Andrew Cant; Michael Wright; Bernard Keavney; Patrick F Chinnery; John Loughlin; Sophie Hambleton; Mauro Santibanez-Koref; Matthew Collin
Journal:  Blood       Date:  2011-07-15       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

  10 in total
  3 in total

1.  Diagnostic uncertainty and epistemologic humility.

Authors:  Andrew Kelly; Richard S Panush
Journal:  Clin Rheumatol       Date:  2017-04-22       Impact factor: 2.980

Review 2.  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

Review 3.  A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency.

Authors:  Abhimanyu A Amarnani; Katlin R Poladian; Beatriz E Marciano; Janine R Daub; Sandra G Williams; Alicia A Livinski; Amy P Hsu; Cindy L Palmer; Cara M Kenney; Daniele N Avila; Steven M Holland; James D Katz
Journal:  Sci Rep       Date:  2020-05-20       Impact factor: 4.379

  3 in total

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