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Disease: Neutropenia monocytopenia deafness

  • A phase 3 randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome
  • A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome
  • Acquired Senescent T-Cell Phenotype Correlates with Clinical Severity in GATA Binding Protein 2-Deficient Patients
  • Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood
  • Neutropenia, recurrent bacterial infections, and congenital deafness in patients with monocytopenia. Absence of peripheral blood colony-stimulating activity
  • Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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