title: Primary immunodeficiency diseases associated with increased susceptibility to viral infections and malignancies.
abstract: Primary immunodeficiencies (PIDs) are commonly characterized by an increased susceptibility to specific infections and, in certain instances, a higher than usual incidence of malignancies. Although improved diagnosis and early treatment of PIDs have reduced early morbidity and mortality from infection, the development of cancer remains a significant cause of premature death. The emergence of cancer in patients with PIDs often results from impairments in the immune response that lead to weakened surveillance against oncogenic viruses, premalignant or malignant cells, or both. Here we review the clinical and biologic features of several PIDs associated with enhanced susceptibility to viral infections and cancer, including X-linked lymphoproliferative disease; IL-2-inducible T-cell kinase deficiency; epidermodysplasia verruciformis; warts, hypogammaglobulinemia, infections, and myelokathexis syndrome; autosomal recessive hyper-IgE syndrome; X-linked agammaglobulinemia; and common variable immunodeficiency. It is of importance that we gain in-depth insights into the fundamental molecular nature of these unique PIDs to better understand the pathogenesis of virus-associated malignancies and to develop innovative therapeutic strategies.
authors.affiliation: Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. rezaei_nima@tums.ac.ir
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
authors.forename: Mona
authors.initials: M
authors.lastname: Hedayat
authors.forename: Asghar
authors.initials: A
authors.lastname: Aghamohammadi
authors.forename: Kim E
authors.initials: KE
authors.lastname: Nichols
mesh_terms: D004198:Disease Susceptibility; D004819:Epidermodysplasia Verruciformis / Q000150:complications; D020662:Guanine Nucleotide Exchange Factors / Q000172:deficiency / Q000235:genetics; D006801:Humans; D056724:Immunity, Humoral; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000235:genetics / Q000276:immunology; D007589:Job Syndrome / Q000150:complications; D008232:Lymphoproliferative Disorders / Q000150:complications / Q000235:genetics / Q000276:immunology; D009369:Neoplasms / Q000209:etiology*; D000081207:Primary Immunodeficiency Diseases; D011505:Protein-Tyrosine Kinases / Q000172:deficiency / Q000235:genetics; D015398:Signal Transduction; D014777:Virus Diseases / Q000209:etiology*; D014860:Warts / Q000150:complications
chemical_list: C516591:DOCK8 protein, human; D020662:Guanine Nucleotide Exchange Factors; D011505:Protein-Tyrosine Kinases; C080813:emt protein-tyrosine kinase