GATA2 Deficiency

A rare disorder of the immune system with wide-ranging effects which include GATA2 Transcription Factor dysfunction, immunodeficiency, myelodysplastic syndrome (ineffective blood cell production), lung disease, and problems of the vascular and lymphatic system.

Also Known As:

Emberger Syndrome; GATA2 Haploinsufficiency; Immunodeficiency type 21; MonoMac Syndrome; Myelodysplastic Syndrome Acute Myeloid Leukemia; Natural Killer Cell Deficiency; Primary Lymphedema with Myelodysplasia; GATA2 Deficiencies; GATA2 Haploinsufficiencies; MonoMac Syndromes

Networked: 124 relevant articles (2 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Infections
2.	Bone Marrow Failure Disorders
3.	Chronic Myelomonocytic Leukemia (Leukemia, Chronic Myelomonocytic)
4.	Neoplasms (Cancer)
5.	Precursor Cell Lymphoblastic Leukemia-Lymphoma (Acute Lymphoblastic Leukemia)

Experts

1.	Holland, Steven M: 16 articles (01/2022 - 09/2011)
2.	Hsu, Amy P: 12 articles (01/2022 - 09/2011)
3.	Hickstein, Dennis D: 11 articles (01/2022 - 09/2011)
4.	Calvo, Katherine R: 10 articles (01/2022 - 09/2011)
5.	Parta, Mark: 7 articles (01/2022 - 12/2014)
6.	Zerbe, Christa S: 7 articles (01/2021 - 09/2011)
7.	Cuellar-Rodriguez, Jennifer: 7 articles (01/2018 - 09/2011)
8.	Cole, Kristen: 4 articles (01/2021 - 12/2014)
9.	Freeman, Alexandra F: 4 articles (01/2018 - 09/2011)
10.	Wlodarski, Marcin W: 3 articles (11/2022 - 01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to GATA2 Deficiency:

1.	Azacitidine (5 Azacytidine)FDA Link 01/01/2019 - "High-risk myelodysplastic syndrome/acute myeloid leukemia patients have a very poor survival after azacitidine failure. " 12/01/2018 - "Impact of performance status and transfusion dependency on outcome of patients with myelodysplastic syndrome, acute myeloid leukemia and chronic myelomonocytic leukemia treated with azacitidine (PIAZA study)." 02/01/2013 - "Predicting infections in high-risk patients with myelodysplastic syndrome/acute myeloid leukemia treated with azacitidine: a retrospective multicenter study." 11/01/2023 - "Azacitidine, lenalidomide and donor lymphocyte infusions for relapse of myelodysplastic syndrome, acute myeloid leukemia and chronic myelomonocytic leukemia after allogeneic transplant: the Azalena-Trial."
2.	NucleotidesIBA 10/24/2023 - "This study demonstrates overexpression of GATA2 resulting from a single nucleotide change in an upstream enhancer element in patients with MonoMAC syndrome. " 10/23/2023 - "Heterozygosity for a single-nucleotide Ets motif variant in the human enhancer creates a bone marrow failure and acute myeloid leukemia predisposition termed GATA2 deficiency syndrome. "
3.	Lenalidomide (CC 5013)FDA Link 01/01/2015 - "There has been no recent collective review on lenalidomide in multiple myeloma, myelodysplastic syndrome/acute myeloid leukemia, and lymphoma. " 11/01/2023 - "Azacitidine, lenalidomide and donor lymphocyte infusions for relapse of myelodysplastic syndrome, acute myeloid leukemia and chronic myelomonocytic leukemia after allogeneic transplant: the Azalena-Trial."
4.	Hemoglobins (Hemoglobin)IBA 09/01/2010 - "This study defined the immunohistochemical profile of CD71, as compared with glycophorin A (CD235a) and hemoglobin, in 65 bone marrow biopsy specimens, including normal marrow specimens and cases of myelodysplastic syndrome, acute myeloid leukemia, acute lymphoblastic leukemia, plasma cell neoplasm, and metastatic carcinoma. "
5.	Glycophorins (Glycophorin C)IBA 09/01/2010 - "This study defined the immunohistochemical profile of CD71, as compared with glycophorin A (CD235a) and hemoglobin, in 65 bone marrow biopsy specimens, including normal marrow specimens and cases of myelodysplastic syndrome, acute myeloid leukemia, acute lymphoblastic leukemia, plasma cell neoplasm, and metastatic carcinoma. "
6.	GATA2 Transcription FactorIBA 01/01/2017 - "GATA binding protein 2 (GATA2) deficiency is a rare disorder of hematopoiesis, lymphatics, and immunity caused by spontaneous or autosomal dominant mutations in the GATA2 gene. " 05/29/2021 - "Heterozygous mutations in the transcription factor GATA2 result in a wide spectrum of clinical phenotypes, including monocytopenia and Mycobacterium avium complex (MAC) infection (MonoMAC) syndrome. " 12/01/2020 - "To describe fertility characteristics, outcomes of oocyte cryopreservation cycles, and safety of ovarian stimulation in patients with GATA binding protein 2 (GATA2) deficiency, dedicator of cytokinesis 8 (DOCK8) deficiency, and sickle cell disease (SCD) preparing for hematopoetic stem cell transplantation (HSCT). " 08/03/2015 - "Heterozygous germline mutations in the zinc finger transcription factor GATA2 have recently been shown to underlie a range of clinical phenotypes, including Emberger syndrome, a disorder characterized by lymphedema and predisposition to myelodysplastic syndrome/acute myeloid leukemia (MDS/AML). " 03/17/2016 - "The Gata2 transcription factor is a pivotal regulator of hematopoietic cell development and maintenance, highlighted by the fact that Gata2 haploinsufficiency has been identified as the cause of some familial cases of acute myelogenous leukemia/myelodysplastic syndrome and in MonoMac syndrome. "
7.	Busulfan (Busulfex)FDA Link 01/01/2018 - "Here, we describe the results of a prospective study of HSCT in 22 patients with GATA2 deficiency using a busulfan-based conditioning regimen. " 01/01/2018 - "Allogeneic Hematopoietic Stem Cell Transplantation for GATA2 Deficiency Using a Busulfan-Based Regimen." 01/01/2022 - "In summary, a busulfan-based HSCT regimen in GATA2 deficiency reverses the hematologic disease phenotype, and the use of PT/Cy reduced the risk of both aGVHD and cGVHD." 01/01/2017 - "We report a 4.5-year-old girl with GATA2 deficiency who underwent matched unrelated donor HSCT utilizing a myeloablative conditioning regimen including intravenous busulfan (total dose of 12.8 mg/kg) and fludarabine (total dose of 160 mg/m) She tolerated the conditioning regimen and bone marrow infusion well. " 12/01/2014 - "We are currently using a high-dose conditioning regimen with busulfan and fludarabine in patients with GATA2 deficiency to achieve more consistent engraftment and eradication of the malignant myeloid clones. "
8.	Granulocyte Colony-Stimulating Factor (G-CSF)IBA 09/01/2019 - "There has been emerging evidence that prolonged exposure to G-CSF in cases with congenital neutropenia other than GSD is associated with transformation to myelodysplastic syndrome/acute myeloid leukemia." 11/01/2003 - "Detection of myelodysplastic syndrome/ acute myeloid leukemia evolving from aplastic anemia in children, treated with recombinant human G-CSF." 01/01/2009 - "Finally, the key role for signal transducer and activator of transcription 5 in mediating the effects of granulocyte colony-stimulating factor receptor truncation mutations in the development of myelodysplastic syndrome/acute myeloid leukemia following SCN has been elucidated. " 06/01/2005 - "Recent reports of myelodysplastic syndrome/acute myeloid leukemia (t-MDS/AML) developing after treatment with immunosuppressants and granulocyte colony-stimulating factor (G-CSF) has raised the question of whether previously unrecognized myelodysplastic features had been present or whether actual transformation had occurred. " 11/01/2003 - "However, recent reports of myelodysplastic syndrome/acute myeloid leukemia (t-MDS/AML) developing after treatment with immunosuppressants and G-CSF has raised concern over the use of this agent in patients with aplastic anemia. "
9.	ThymineIBA 10/01/2018 - "Recently, an immunodeficiency syndrome caused by guanine-adenine-thymine-adenine 2 (GATA2) deficiency has been described. " 01/01/2018 - "Emberger syndrome with underlying guanine-adenine-thymine-adenine 2 (GATA2) mutation is a rare disorder and very few successful nonmyeloablative allogeneic hematopoietic stem cell transplants (HSCTs) have been reported. " 04/01/2015 - "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. "
10.	Proteins (Proteins, Gene)FDA Link 03/01/2015 - "We hypothesized that mutations that are translated into abnormal proteins could affect the transcription of GATA2, triggering GATA2 deficiency. " 08/01/2014 - "Protein O-glucosyltransferase 1 (POGLUT1) is a novel gene that was initially isolated and identified from the bone marrow cells of patients with myelodysplastic syndrome/acute myeloid leukemia. " 01/01/2016 - "Mean plasma levels of tumor necrosis factor α, interferon γ, and interferon gamma-induced protein 10 were higher in patients with GATA2 deficiency than in controls. "

Therapies and Procedures

1.	Hematopoietic Stem Cell Transplantation 01/01/2022 - "The only cure for GATA2 deficiency is allogeneic hematopoietic stem cell transplantation (allo-HSCT). " 01/01/2022 - "Here, we describe the absence of ILCs and their progenitors in blood and bone marrow of two patients with GATA2 haploinsufficiency and show that all subsets of ILCs appear after allogeneic hematopoietic stem cell transplantation, irrespective of the preparative conditioning regimen. " 11/08/2021 - "We report the case of 3.6-year-old boy with Emberger syndrome with a cytomegalovirus reactivation occurring after allogenic hematopoietic stem cell transplantation. " 01/01/2019 - "MonoMAC Syndrome Caused by a Novel GATA2 Mutation Successfully Treated by Allogeneic Hematopoietic Stem Cell Transplantation." 12/01/2014 - "We treated 14 patients with GATA2 deficiency using a nonmyeloablative allogeneic hematopoietic stem cell transplantation regimen. "
2.	Cell Transplantation 01/01/2021 - "Hematopoietic Cell Transplantation and Outcomes Related to Human Papillomavirus Disease in GATA2 Deficiency." 10/01/2018 - "Allogeneic hematopoietic cell transplantation in patients with GATA2 deficiency-a case report and comprehensive review of the literature." 12/27/2014 - "Allogeneic Hematopoietic Cell Transplantation for GATA2 Deficiency in a Patient With Disseminated Human Papillomavirus Disease." 01/01/2023 - "GATA2 Deficiency: Predisposition to Myeloid Malignancy and Hematopoietic Cell Transplantation." 01/01/2020 - "Allogeneic hematopoietic cell transplantation in the management of GATA2 deficiency and pulmonary alveolar proteinosis."
3.	Therapeutics 01/01/2020 - "The broad differential for GATA2 haploinsufficiency requires prompt recognition of key clinical features and laboratory abnormalities towards directing diagnosis and guiding appropriate and perhaps life-saving therapy." 11/01/2015 - "However, the incidence of therapy-related myelodysplastic syndrome/acute myeloid leukemia (t-MDS/AML) has increased. " 01/01/2014 - "Therapy-related myelodysplastic syndrome/acute myeloid leukemia occurred in only one patient (1.3%) with in a median follow-up of 16 months after chemomobilization. " 03/01/2013 - "Searching for clarity in therapy-related myelodysplastic syndrome/acute myeloid leukemia prognostication." 01/01/2013 - "Three cases of therapy-related myelodysplastic syndrome/acute myeloid leukemia (t-MDS/t-AML) were recorded in the BEACOPP escalated group. "
4.	Stem Cell Transplantation 01/01/2020 - "GATA2 deficiency and haematopoietic stem cell transplantation: challenges for the clinical practitioner." 01/01/2018 - "Allogeneic stem cell transplantation can correct immune-deficiencies and prevent leukemic transformation in patients with GATA2 deficiency." 03/01/2016 - "Successful reduced-intensity stem cell transplantation for GATA2 deficiency before progression of advanced MDS." 11/01/2022 - "GATA2 deficiency has been identified as the most common hereditary cause of MDS in adolescents with monosomy 7. Allogenic haematopoietic stem cell transplantation is the only curative option; however, chances of survival decrease with progression of immunodeficiency and MDS evolution. " 12/01/2014 - "Severe cutaneous human papillomavirus infection associated with natural killer cell deficiency following stem cell transplantation for severe combined immunodeficiency."
5.	Drug Therapy (Chemotherapy) 08/01/2006 - "Reviewing all 11 reported cases of plasma cell dyscrasia possessing sole del(20q), including our case, none of 4 cases with del(20q) as an initial anomaly developed myelodysplastic syndrome-acute myeloid leukemia (MDS/AML), but at least 3 cases with del(20q) appearing after chemotherapy developed MDS/AML at or after the time of del(20q). " 12/01/2001 - "Our experience suggests that recognition of typical morphological features for de novo M2 acute myeloid leukemia with t(8;21) would be important in diagnosis of therapy related myelodysplastic syndrome/acute myeloid leukemia with this translocation, which could respond to an intensive chemotherapy." 01/29/2009 - "Secondary malignancies were more frequent in the HDT than in the chemotherapy group (6 secondary myelodysplastic syndrome/acute myeloid leukemia and 6 second solid tumor cancers vs 1 acute myeloid leukemia, P = .01). " 10/01/2007 - "Therapy-related myelodysplastic syndrome/acute myeloid leukemia (t-MDS/AML) is an increasingly recognized treatment complication in patients treated with radiotherapy or chemotherapy for previous hematologic malignancies or solid tumors. " 12/01/2023 - "In this report, we present the case of a 40-year-old man with Emberger syndrome (GATA2 mutation, recently diagnosed acute myeloid leukaemia [AML] and history of lymphedema with hearing loss) who developed Mucorales sinusitis while receiving his first course of remission induction chemotherapy. "