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- Title
Deficit transkripčního faktoru GATA-2: nová imunodeficience se širokým fenotypovým spektrem. První pacienti diagnostikovaní v České republice a přehled literatury.
- Authors
Janda, A.; Mejstříková, E.; Salzer, U.; Grimová, J.; Svobodová, T.; Suková, M.; Nováková, M.; Hubáček, P.; Zemanová, Z.; Čermák, J.; Černá, Z.; Vítek, A.; Šedivá, A.; Hrušák, O.; Starý, J.
- Abstract
Defects in the zinc-finger transcription factor GATA-2 gene have been recently identified in variable phenotypes associated with myeloid malignancies - myelodysplastic syndrome and acute myeloid leukaemia (MDS/AML): DCML (dendritic cell, monocyte, B-lymphocyte and NK-lymphocyte) deficiency or MonoMAC syndrome (monocytopenia with Mycobaterium avium complex infections), Emberger syndrome (early onset primary lymphoedema, multiple warts, sensorineural deafness, dysmorphism); and familial MDS/AML with no additional known phenotype. In the Czech Republic there have been 2 patients diagnosed with GATA-2 deficiency so far. The first patient was investigated at the age of 12 years for recurrent urinary tract infections, aphtous stomatitis, herpetic skin infections and bronchial asthma; leukopenia, mild macrocytic anaemia and markedly low number of B lymphocytes with normal immunoglobulin levels were found. In the following 10 years bicytopenia progressed into a hypoplastic MDS. The girl underwent successful transplantation of haematopoietic stem cells from her HLA-identical healthy sister. Retrospectively, a heterozygous mutation (c.1187 G>A, p.R396Q) in GATA-2 has been identified. The second patient is 17 year-old boy investigated for an advanced interstitial pulmonary process with cystic remodelling of pulmonary parenchyma accompanied by signs of vasculitis. Suspicion of GATA-2 genetic defect was based on profound monocytopenia and B-cell lymphopenia. By molecular genetic analysis of GATA-2 heterozygous mutation (c.1081 C>T, p.R361C) was revealed. Our experience corresponds with the published data on the broad phenotypic variability in patients with GATA-2 mutations. Establishment of the diagnosis of GATA-2 deficiency should lead to closer follow-up of the affected individuals and earlier allogeneic haematopoietic stem cell transplantation in case of clonal progression (MDS/AML).
- Subjects
IMMUNODEFICIENCY; IMMUNITY; PHENOTYPES; STEM cell transplantation research; CELL transplantation
- Publication
Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2013, Vol 68, Issue 2, p101
- ISSN
0069-2328
- Publication type
Article