title: Inborn errors in immunity: unique natural models to dissect oral immunity.
abstract: In recent years, the study of genetic defects arising from inborn errors in immunity has resulted in the discovery of new genes involved in the function of the immune system and in the elucidation of the roles of known genes whose importance was previously unappreciated. With the recent explosion in the field of genomics and the increasing number of genetic defects identified, the study of naturally occurring mutations has become a powerful tool for gaining mechanistic insight into the functions of the human immune system. In this concise perspective, we discuss emerging evidence that inborn errors in immunity constitute real-life models that are indispensable both for the in-depth understanding of human biology and for obtaining critical insights into common diseases, such as those affecting oral health. In the field of oral mucosal immunity, through the study of patients with select gene disruptions, the interleukin-17 (IL-17) pathway has emerged as a critical element in oral immune surveillance and susceptibility to inflammatory disease, with disruptions in the IL-17 axis now strongly linked to mucosal fungal susceptibility, whereas overactivation of the same pathways is linked to inflammatory periodontitis.
authors.affiliation: Oral Immunity and Inflammation Unit, National Institute of Dental and Craniofacial Research, NIH, Bethesda, MD, USA nmoutsop@mail.nih.gov.
authors.forename: N M
authors.initials: NM
authors.lastname: Moutsopoulos
authors.affiliation: Fungal Pathogenesis Unit, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA.
authors.forename: M S
authors.initials: MS
authors.lastname: Lionakis
authors.affiliation: Department of Microbiology, University of Pennsylvania School of Dental Medicine, Philadelphia, PA, USA.
authors.forename: G
authors.initials: G
authors.lastname: Hajishengallis
mesh_terms: D004198:Disease Susceptibility / Q000276:immunology; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000276:immunology; D006801:Humans; D018928:Immunity, Mucosal / Q000235:genetics* / Q000276:immunology; D007157:Immunologic Surveillance / Q000235:genetics; D020381:Interleukin-17 / Q000235:genetics / Q000276:immunology; D009059:Mouth Diseases / Q000235:genetics* / Q000276:immunology; D009061:Mouth Mucosa / Q000276:immunology*
chemical_list: D020381:Interleukin-17
keywords: IL-17; Th17; human oral immunity; monogenic immune defects; oral candidiasis susceptibility; periodontitis susceptibility