title: Warts and all: human papillomavirus in primary immunodeficiencies.
abstract: Infection with human papillomavirus (HPV) is almost universal and eventually asymptomatic, but pathologic infection with HPV is severe, recurrent, and recalcitrant to therapy. It is also an underappreciated manifestation of primary immunodeficiency. Mutations in EVER1, EVER2, GATA2, CXCR4, and dedicator of cytokinesis 8 (DOCK8) are typically associated with extensive HPV infections, whereas several other primary immune defects result in severe HPV much less frequently. We review immunodeficiencies with severe HPV infections and the mechanisms underlying them.
authors.affiliation: Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892-1684, USA. jleiding@health.usf.edu
authors.forename: Jennifer W
authors.initials: JW
authors.lastname: Leiding
authors.forename: Steven M
authors.initials: SM
authors.lastname: Holland
mesh_terms: D000818:Animals; D020022:Genetic Predisposition to Disease; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000235:genetics / Q000276:immunology*; D008565:Membrane Proteins / Q000235:genetics; D027383:Papillomaviridae / Q000276:immunology*; D030361:Papillomavirus Infections / Q000209:etiology / Q000235:genetics / Q000276:immunology*; D011110:Polymorphism, Genetic; D053491:Proteinase Inhibitory Proteins, Secretory / Q000235:genetics; D019718:Receptors, CXCR4 / Q000235:genetics; D012307:Risk Factors; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D014412:Tumor Virus Infections / Q000209:etiology / Q000235:genetics / Q000276:immunology*; D014860:Warts / Q000209:etiology / Q000235:genetics / Q000276:immunology*
chemical_list: C527276:CXCR4 protein, human; C516591:DOCK8 protein, human; D020662:Guanine Nucleotide Exchange Factors; D008565:Membrane Proteins; D053491:Proteinase Inhibitory Proteins, Secretory; D019718:Receptors, CXCR4; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; C470314:TMC6 protein, human; C470315:TMC8 protein, human