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Skin manifestations among GATA2-deficient patients
A Polat1, M Dinulescu1, S Fraitag2
1Dermatology Department, CHU Rennes, Rennes, France.
The British Journal of Dermatology
|April 26, 2017
Summary
GATA2 mutations cause rare syndromes with severe infections and blood disorders. This study highlights new skin findings, including gingival hypertrophy and facial lesions, in GATA2 deficiency patients.
Area of Science:
- Genetics
- Hematology
- Dermatology
Background:
- GATA2 mutations are linked to several rare syndromes like MonoMAC syndrome and Emberger syndrome.
- These conditions often manifest with severe infections, hematological disorders (e.g., myelodysplastic syndrome), and common dermatological issues such as warts and lymphedema.
- GATA2 deficiency affects immune cells, including dendritic cells, monocytes, B-cells, and natural killer cells.
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