Article
GATA2 deficiency phenotype associated with tandem duplication of GATA2 and overexpression of GATA2-AS1.
Blood advances - 28 Dec 2021
Singh Preeti, Heer Maninder, Resteu Anastasia, Mikulasova Aneta, Reza Mojgan, Largeaud Laëtitia, Dufrechou Stéphanie, Prade Naïs, Dickinson Rachel E, Bustamante Jacinta, Neven Bénédicte, Bigley Venetia, Delabesse Eric, Rico Daniel, Pasquet Marlène, Collin Matthew
Abstract excerpt
A 3-year-old girl of nonconsanguineous healthy parents presented with cervical and mediastinal lymphadenopathy due to Mycobacterium fortuitum infection. Routine blood analysis showed normal hemoglobin, neutrophils, and platelets but profound mononuclear cell deficiency (monocytes < 0.1 × 109/L; B cells 78/μL; NK cells 48/μL). A 548 902-bp region containing GATA2 was sequenced by targeted capture and deep...
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