{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T20:57:17Z","timestamp":1770065837659,"version":"3.49.0"},"reference-count":42,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,1,7]],"date-time":"2024-01-07T00:00:00Z","timestamp":1704585600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000060","name":"National Institute of Allergy and Infectious Diseases","doi-asserted-by":"publisher","award":["1K99DE030124\u201001A1"],"award-info":[{"award-number":["1K99DE030124\u201001A1"]}],"id":[{"id":"10.13039\/100000060","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Clinic Periodontology"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>WHIM (warts, hypogammaglobulinaemia, infections and myelokathexis) syndrome is a rare combined primary immunodeficiency disease caused by gain\u2010of\u2010function (GOF) mutations in the chemokine receptor <jats:italic>CXCR4<\/jats:italic> and includes severe neutropenia as a common feature. Neutropenia is a known risk factor for periodontitis; however, a detailed periodontal evaluation of a WHIM syndrome cohort is lacking. This study aimed to establish the evidence base for the periodontal status of patients with WHIM syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>Twenty\u2010two adult WHIM syndrome patients and 22 age\u2010 and gender\u2010matched healthy volunteers (HVs) were evaluated through a comprehensive medical and periodontal examination. A mouse model of WHIM syndrome was assessed for susceptibility to naturally progressing or inducible periodontitis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Fourteen patients with WHIM syndrome (63.6%) and one HV (4.5%) were diagnosed with Stage III\/IV periodontitis. No WHIM patient presented with the early onset, dramatic clinical phenotypes typically associated with genetic forms of neutropenia. Age, but not the specific <jats:italic>CXCR4<\/jats:italic> mutation or absolute neutrophil count, was associated with periodontitis severity in the WHIM cohort. Mice with a <jats:italic>Cxcr4<\/jats:italic> GOF mutation did not exhibit increased alveolar bone loss in spontaneous or ligature\u2010induced periodontitis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Overall, WHIM syndrome patients presented with an increased severity of periodontitis despite past and ongoing neutrophil mobilization treatments. GOF mutations in <jats:italic>CXCR4<\/jats:italic> may be a risk factor for periodontitis in humans.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jcpe.13940","type":"journal-article","created":{"date-parts":[[2024,1,8]],"date-time":"2024-01-08T02:22:55Z","timestamp":1704680575000},"page":"464-473","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Periodontal disease in patients with <scp>WHIM<\/scp> syndrome"],"prefix":"10.1111","volume":"51","author":[{"given":"Laurie","family":"Brenchley","sequence":"first","affiliation":[{"name":"Oral Immunity and Infection Section National Institute of Dental and Craniofacial Research, NIH  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6978-0867","authenticated-orcid":false,"given":"David H.","family":"McDermott","sequence":"additional","affiliation":[{"name":"Molecular Signaling Section Laboratory of Molecular 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