Total: 1 |
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PMID (PMCID) | ||
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25619630 (4402062) |
MIXED_SAMPLE | Child |
Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations. | ||
Mir MA, Kochuparambil ST, Abraham RS, Rodriguez V, Howard M, Hsu AP, Jackson AE, Holland SM, Patnaik MM. Cancer Med. 2015;4(4):490-9. |
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Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC syndrome (Monocytopenia and Mycobacterium avium complex infections), DCML (dendritic cell, monocyte, and lymphocyte deficiency), familial MDS/AML (myelodysplastic syndrome/acute myeloid leukemia) (myeloid neoplasms), congenital neutropenia, congenital lymphedema (Emberger's syndrome), sensorineural deafness, viral warts, and a spectrum of aggressive infections seen across all age groups. |