Literature DB >> 25128101

A woman with warts, leg swelling, and deafness.

Melissa A Muszynski1, Christa S Zerbe2, Steven M Holland2, Heidi H Kong3.   

Abstract

KEY TEACHING POINTS • We describe a 45-year-old woman with GATA2 deficiency associated with verrucae, lymphedema, immunodeficiency, and a history of infections and skin cancer. • GATA2 deficiency has variable clinical expressivity with differing presentations, including infection, hematopoietic abnormalities, immunodeficiency, lymphedema, and cancer. • Cutaneous manifestations include verruca vulgaris, soft tissue infections, lymphedema, and panniculitis. • Patients may have verrucae that can progress to squamous cell carcinomas; dermatologists therefore play an important role in managing these patients as members of a multidisciplinary team. Published by Mosby, Inc.

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Year:  2014        PMID: 25128101      PMCID: PMC4134806          DOI: 10.1016/j.jaad.2014.04.027

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN: 0190-9622            Impact factor:   11.527


  10 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

Review 2.  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

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.  Highly variable clinical manifestations in a large family with a novel GATA2 mutation.

Authors:  P G N J Mutsaers; A A van de Loosdrecht; K Tawana; C Bödör; J Fitzgibbon; F H Menko
Journal:  Leukemia       Date:  2013-04-08       Impact factor: 11.528

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.  Gata2 is required for the development of inner ear semicircular ducts and the surrounding perilymphatic space.

Authors:  Maarja Haugas; Kersti Lilleväli; Janne Hakanen; Marjo Salminen
Journal:  Dev Dyn       Date:  2010-09       Impact factor: 3.780

8.  Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

Authors:  Pia Ostergaard; Michael A Simpson; Fiona C Connell; Colin G Steward; Glen Brice; Wesley J Woollard; Dimitra Dafou; Tatjana Kilo; Sarah Smithson; Peter Lunt; Victoria A Murday; Shirley Hodgson; Russell Keenan; Daniela T Pilz; Ines Martinez-Corral; Taija Makinen; Peter S Mortimer; Steve Jeffery; Richard C Trembath; Sahar Mansour
Journal:  Nat Genet       Date:  2011-09-04       Impact factor: 38.330

9.  High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.

Authors:  Marlène Pasquet; Christine Bellanné-Chantelot; Suzanne Tavitian; Naïs Prade; Blandine Beaupain; Olivier Larochelle; Arnaud Petit; Pierre Rohrlich; Christophe Ferrand; Eric Van Den Neste; Hélène A Poirel; Thierry Lamy; Marie Ouachée-Chardin; Véronique Mansat-De Mas; Jill Corre; Christian Récher; Geneviève Plat; Françoise Bachelerie; Jean Donadieu; Eric Delabesse
Journal:  Blood       Date:  2012-12-06       Impact factor: 22.113

10.  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

  10 in total
  2 in total

Review 1.  Rheumatologic manifestations of the "MonoMAC" syndrome. a systematic review.

Authors:  Jennifer A Johnson; Steven S Yu; Michael Elist; Daniel Arkfeld; Richard S Panush
Journal:  Clin Rheumatol       Date:  2015-03-05       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

  2 in total

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