GATA2 Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutation in GATA2 can lead to GATA2 deficiency characterized by a complex multi-system disorder that can present with many manifestations including variable cytopenias, bone marrow failure, myelodysplastic syndrome/acute myeloid leukemia (MDS/AML), and severe immunodeficiency.
|
30578959 |
2019 |
GATA2 Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutational sensitization to stress that instigates hematopoietic failure constitutes a paradigm for GATA-2 deficiency syndrome and other contexts of GATA-2-dependent pathogenesis.
|
30620726 |
2019 |
GATA2 Deficiency
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients.
|
29724903 |
2018 |
GATA2 Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Two previously reported adult GATA2-deficient patients died from severe H1N1 IAV infection; GATA2 deficiency may predispose to life-threatening influenza in adulthood.
|
29882021 |
2018 |
GATA2 Deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.
|
29077208 |
2018 |
GATA2 Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
GATA2 mutations have been identified in various diseases, such as MonoMAC syndrome, Emberger syndrome, familial myelodysplastic syndrome, acute myeloid leukaemia and dendritic cell, monocyte, B-cell and natural killer-cell deficiency.
|
28440875 |
2018 |
GATA2 Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Because patients with GATA-2 deficiency syndrome could retain a wild-type copy of GATA-2, boosting residual wild-type GATA-2 activity may represent a novel therapeutic strategy for the disease.
|
29343653 |
2018 |
GATA2 Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Thus, allogeneic hematopoietic stem cell transplant results in reconstitution of immunologic function and cure of EBV-associated malignancy in MonoMAC/GATA2 deficiency.
|
27924436 |
2017 |
GATA2 Deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Multiple Opportunistic Infections in a Woman with GATA2 Mutation.
|
27894982 |
2017 |
GATA2 Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous germline mutations in GATA2 have been initially associated with several clinical entities that are now collectively defined as GATA2 deficiency.
|
28643018 |
2017 |
GATA2 Deficiency
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
GATA2 haploinsufficiency is implicated in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), and GATA2 overexpression portends a poor prognosis for AML.
|
27545880 |
2016 |
GATA2 Deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
|
27418648 |
2016 |
GATA2 Deficiency
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
|
27418648 |
2016 |
GATA2 Deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Single-gene association between GATA-2 and autoimmune hepatitis: A novel genetic insight highlighting immunologic pathways to disease.
|
26812071 |
2016 |
GATA2 Deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.
|
26702063 |
2016 |
GATA2 Deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia.
|
25676417 |
2015 |
GATA2 Deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.
|
25879889 |
2015 |
GATA2 Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
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.
|
25619630 |
2015 |
GATA2 Deficiency
|
0.800 |
Biomarker
|
disease |
CLINGEN |
We hypothesized that mutations that are translated into abnormal proteins could affect the transcription of GATA2, triggering GATA2 deficiency.
|
25624456 |
2015 |
GATA2 Deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.
|
26492932 |
2015 |
GATA2 Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous GATA-2 germline mutations are associated with overlapping clinical manifestations termed GATA-2 deficiency, characterized by immunodeficiency and predisposition to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML).
|
24782121 |
2014 |
GATA2 Deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.
|
24077845 |
2014 |
GATA2 Deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.
|
23365458 |
2013 |
GATA2 Deficiency
|
0.800 |
Biomarker
|
disease |
CLINGEN |
High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.
|
23223431 |
2013 |
GATA2 Deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.
|
23502222 |
2013 |