GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report.
BMC Med Genet
; 20(1): 64, 2019 04 29.
Article
em En
| MEDLINE
| ID: mdl-31035956
ABSTRACT
BACKGROUND:
GATA2 is a transcription factor that is a critical regulator of gene expression in hematopoietic cells. GATA2 deficiency presents with multi-lineage cytopenia, mycobacterial, fungal and viral infections. Patients with GATA2 mutation have a high risk of developing myelodysplastic syndrome or acute myeloid leukemia. CASE PRESENTATION We described a 43 years-old white male with 20-year follow-up of autoimmune and thrombotic phenomena, hypothyroidism, disseminated refractory Mycobacterium kansasii infection and MonoMAC syndrome. GATA2 c.1061 C > T; p.T354 M mutation was identified after he progressed from myelodysplastic pancytopenia to refractory anemia with excess blasts type II. His relatives were also investigated and he underwent unsuccessful haematopoietic stem cell transplantation. We discuss the clinical features, genetic diagnosis and treatment of this immunodeficiency disorder.CONCLUSIONS:
This case illustrates the challenge how a multidisciplinary disease should be handle. Once usual causes of immunodeficiency were excluded, clinicians should considerGATA2 deficiency in patients with myelodysplasia and long-standing Mycobacterium kansasii infection.Palavras-chave
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Base de dados:
MEDLINE
Assunto principal:
Síndromes Mielodisplásicas
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Mycobacterium kansasii
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Fator de Transcrição GATA2
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Deficiência de GATA2
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Mutação
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Infecções por Mycobacterium não Tuberculosas
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article