Diagnosis of GATA2 haplo-insufficiency in a young woman prompted by pancytopenia with deficiencies of B-cell and dendritic cell development

• Main Authors: Allen Sanyi (Author), David L. Jaye (Author), Cecilia B. Rosand (Author), Amanda Box (Author), Chandrakasan Shanmuganathan (Author), Edmund K. Waller (Author)
• Format: Knjiga
• Izdano: BMC, 2018-03-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Abstract Background GATA2 deficiency presents with a spectrum of phenotypes including increased susceptibility to viral and bacterial infections, multi-lineage cytopenias, aplastic anemia, leukemic transformation and lymphedema. Allogeneic transplantation is only curative therapy for GATA2 deficienc...