Immunopathogenesis of skin and mucosal Human Papillomavirus (HPV)-related diseases

National Institute Of Allergy And Infectious Diseases

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Abstract

The studies on the genetic determinants of HPV-related diseases elucidated the role of CD4 T cells and NK cells in the development and clinical progression of HPV-related skin and mucosal diseases. In particular, we reported on the clinical and immunological defects associated with a novel genetic variant causing a complete multilineage loss of expression of the CD4 molecule and the role NK mediated cytotoxicity in the context of a novel IL-2RG missense variant with somatic reversion. Such studies illustrated the role of specific immunological function as well as the role of a reduced intensity conditioning allogeneic bone marrow transplantation (BMT) in leading to stable regression of recurrent HPV-related diseases. Novel metagenomic tools for HPV genotyping have been integrated with studies on the immunological function associated with control of HPV replication in the skin and in the anogenital compartment. The clinical and regulatory infrastructure to evaluate patients with skin and anogenital HPV-related disease has been further expanded focusing on patients with primary immunodeficiencies, idiopathic CD4 lymphopenia (ICL) and HIV/AIDS while a novel clinical protocol using long-acting rh IL-7 has been launched in a patient with ICL and refractory skin and mucosal HPV-related diseases.