title: A 17-year old patient with DOCK8 deficiency, severe oral HSV-1 and aggressive periodontitis - a case of virally induced periodontitis?
abstract: We present a 17-year old girl with DOCK-8 deficiency, severe untreated oral HSV-1 infection and associated aggressive periodontitis. DOCK-8 deficiency is a primary immunodeficiency, caused by biallelicloss-of-function mutations in the DOCK8 gene, often leading to severe viral and fungal mucocutaneous infections. Nevertheless, to date DOCK8 has not been associated with severe periodontitis and inflammatory bone loss around teeth. Understanding whether DOCK8 deficiency or severe HSV-1 infection underlies susceptibility to periodontitis is central to this case and may provide insights into susceptibility factors for periodontitis in the general population. Our clinical and microbiological data suggest that severe HSV-1 infection is the driver of periodontal inflammation in this case.
authors.affiliation: Oral Immunity and Inflammation Unit, OPCB, NIDCR, NIH, United States.
authors.forename: K
authors.initials: K
authors.lastname: Betts
authors.affiliation: Oral Immunity and Inflammation Unit, OPCB, NIDCR, NIH, United States.
authors.forename: L
authors.initials: L
authors.lastname: Abusleme
authors.affiliation: Laboratory of Clinical Infectious Diseases, NIAID, NIH, United States.
authors.forename: A F
authors.initials: AF
authors.lastname: Freeman
authors.affiliation: Oral Immunity and Inflammation Unit, OPCB, NIDCR, NIH, United States.
authors.forename: M
authors.initials: M
authors.lastname: Sarmadi
authors.affiliation: Department of Laboratory Medicine, Clinical Center, NIH, United States.
authors.forename: G
authors.initials: G
authors.lastname: Fahle
authors.affiliation: Laboratory of Pathology, Center for Cancer Research, NCI, NIH, United States.
authors.forename: S
authors.initials: S
authors.lastname: Pittaluga
authors.affiliation: Laboratory of Clinical Infectious Diseases, NIAID, NIH, United States.
authors.forename: J
authors.initials: J
authors.lastname: Cuellar-Rodriguez
authors.affiliation: Experimental Transplantation and Immunology Branch, NCI, NIH, United States.
authors.forename: D
authors.initials: D
authors.lastname: Hickstein
authors.affiliation: Laboratory of Clinical Infectious Diseases, NIAID, NIH, United States.
authors.forename: S M
authors.initials: SM
authors.lastname: Holland
authors.affiliation: Laboratory of Host Defense, NIAID, NIH, United States.
authors.forename: H
authors.initials: H
authors.lastname: Su
authors.affiliation: Oral Immunity and Inflammation Unit, OPCB, NIDCR, NIH, United States. Electronic address: nmoutsop@mail.nih.gov.
authors.forename: N M
authors.initials: NM
authors.lastname: Moutsopoulos
mesh_terms: D000293:Adolescent; D010520:Aggressive Periodontitis / Q000473:pathology* / Q000821:virology*; D004198:Disease Susceptibility; D005260:Female; D020662:Guanine Nucleotide Exchange Factors / Q000172:deficiency*; D006561:Herpes Simplex / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology; D018259:Herpesvirus 1, Human / Q000302:isolation & purification*; D006801:Humans
chemical_list: C516591:DOCK8 protein, human; D020662:Guanine Nucleotide Exchange Factors
keywords: Aggressive periodontitis; DOCK8 deficiency; Oral HSV-1