Abstract
GATA2 deficiency is an immunodeficiency and bone marrow failure disorder caused by pathogenic variants in GATA2. It is inherited in an autosomal-dominant pattern or can be due to de novo sporadic germline mutation. Patients commonly have B-cell, dendritic cell, natural killer cell, and monocytopenias, and are predisposed to myelodysplastic syndrome, acute myeloid leukemia, and chronic myelomonocytic leukemia. Patients may suffer from disseminated human papilloma virus and mycobacterial infections, pulmonary alveolar proteinosis, and lymphedema. The bone marrow eventually takes on a characteristic hypocellular myelodysplasia with loss of monocytes and hematogones, megakaryocytes with separated nuclear lobes, micromegakaryocytes, and megakaryocytes with hypolobated nuclei.
Keywords:
GATA2; MDS; Micromegakaryocytes; Monocytopenia.
Published by Elsevier Inc.
MeSH terms
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Anemia, Aplastic* / genetics
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Anemia, Aplastic* / metabolism
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Anemia, Aplastic* / pathology
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Bone Marrow Diseases* / genetics
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Bone Marrow Diseases* / metabolism
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Bone Marrow Diseases* / pathology
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Bone Marrow Failure Disorders
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GATA2 Deficiency* / genetics
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GATA2 Deficiency* / metabolism
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GATA2 Deficiency* / pathology
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GATA2 Transcription Factor / genetics*
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Genetic Predisposition to Disease*
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Germ-Line Mutation*
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Hemoglobinuria, Paroxysmal* / genetics
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Hemoglobinuria, Paroxysmal* / metabolism
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Hemoglobinuria, Paroxysmal* / pathology
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Humans
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Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics
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Leukemia, Myelogenous, Chronic, BCR-ABL Positive / metabolism
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Leukemia, Myelogenous, Chronic, BCR-ABL Positive / pathology
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Leukemia, Myeloid, Acute / genetics
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Leukemia, Myeloid, Acute / metabolism
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Leukemia, Myeloid, Acute / pathology
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Myelodysplastic Syndromes / genetics
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Myelodysplastic Syndromes / metabolism
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Myelodysplastic Syndromes / pathology
Substances
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GATA2 Transcription Factor
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GATA2 protein, human