Current Status of Dedicator of Cytokinesis-Associated Immunodeficiency: DOCK8 and DOCK2

• Autores: Dimana Dimitrova, Alexandra F. Freeman
• Localización: Dermatologic clinics, ISSN 0733-8635, Vol. 35, Nº. 1, 2017 (Ejemplar dedicado a: Basic Science Insights into Clinical Puzzles), págs. 11-19
• Idioma: inglés
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• Resumen

  • DOCK8 deficiency is an autosomal recessive combined immunodeficiency disease associated with elevated IgE, atopy, recurrent sinopulmonary and cutaneous viral infections, and malignancy. The DOCK8 protein is critical for cytoskeletal organization, and deficiency impairs dendritic cell transmigration, T-cell survival, and NK cell cytotoxicity. Early hematopoietic stem cell transplantation is gaining prominence as a definitive treatment given the potential for severe complications and mortality in this disease. Recently, DOCK2 deficiency has been identified in several patients with early-onset invasive bacterial and viral infections.