Article
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.
Blood - 8 Sept 2011
Hsu Amy P, Sampaio Elizabeth P, Khan Javed, Calvo Katherine R, Lemieux Jacob E, Patel Smita Y, Frucht David M, Vinh Donald C, Auth Roger D, Freeman Alexandra F, Olivier Kenneth N, Uzel Gulbu, Zerbe Christa S, Spalding Christine, Pittaluga Stefania, Raffeld Mark, Kuhns Douglas B, Ding Li, Paulson Michelle L, Marciano Beatriz E, Gea-Banacloche Juan C, Orange Jordan S, Cuellar-Rodriguez Jennifer, Hickstein Dennis D, Holland Steven M
Abstract excerpt
The syndrome of monocytopenia, B-cell and NK-cell lymphopenia, and mycobacterial, fungal, and viral infections is associated with myelodysplasia, cytogenetic abnormalities, pulmonary alveolar proteinosis, and myeloid leukemias. Both autosomal dominant and sporadic cases occur. We identified 12 distinct mutations in GATA2 affecting 20 patients and relatives with this syndrome, including recurrent missense...
Topics
- GATA2 Transcription Factor
- Genes, Dominant
- Genetic Predisposition to Disease
- Humans
- Monocytes
- Mutation
- Mycobacterium
- Mycobacterium Infections