title: Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations.
abstract: Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC syndrome (Monocytopenia and Mycobacterium avium complex infections), DCML (dendritic cell, monocyte, and lymphocyte deficiency), familial MDS/AML (myelodysplastic syndrome/acute myeloid leukemia) (myeloid neoplasms), congenital neutropenia, congenital lymphedema (Emberger's syndrome), sensorineural deafness, viral warts, and a spectrum of aggressive infections seen across all age groups. While considerable efforts have been made to identify the mutations that characterize this disorder, pathogenesis remains a work in progress with less than 100 patients described in current literature. Varying clinical presentations offer diagnostic challenges. Allogeneic stem cell transplant remains the treatment of choice. Morbidity, mortality, and social costs due to the familial nature of the disease are considerable. We describe our experience with the disorder in three affected families and a comprehensive review of current literature.
authors.affiliation: Penn State Milton S. Hershey Cancer Institute, Hershey, Pennsylvania.
authors.forename: Muhammad A
authors.initials: MA
authors.lastname: Mir
authors.forename: Samith T
authors.initials: ST
authors.lastname: Kochuparambil
authors.forename: Roshini S
authors.initials: RS
authors.lastname: Abraham
authors.forename: Vilmarie
authors.initials: V
authors.lastname: Rodriguez
authors.forename: Matthew
authors.initials: M
authors.lastname: Howard
authors.forename: Amy P
authors.initials: AP
authors.lastname: Hsu
authors.forename: Amie E
authors.initials: AE
authors.lastname: Jackson
authors.forename: Steven M
authors.initials: SM
authors.lastname: Holland
authors.forename: Mrinal M
authors.initials: MM
authors.lastname: Patnaik
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D050989:GATA2 Transcription Factor / Q000235:genetics*; D005817:Genetic Counseling; D018095:Germ-Line Mutation / Q000235:genetics*; D019337:Hematologic Neoplasms / Q000235:genetics* / Q000628:therapy; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008297:Male
chemical_list: D050989:GATA2 Transcription Factor; C494711:GATA2 protein, human
keywords: GATA2; MonoMAC; leukemia; lymphedema; viral warts