Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome

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dc.contributor.authorTar, Ildiko
dc.contributor.authorSzegedi, Marta
dc.contributor.authorKrasuska-Slawinska, Ewa
dc.contributor.authorHeropolitanska-Pliszka, Edyta
dc.contributor.authorBernatowska, Ewa a.
dc.contributor.authorOncu, Elif
dc.contributor.authorKeles, Sevgi
dc.date.accessioned2024-02-23T14:40:55Z
dc.date.available2024-02-23T14:40:55Z
dc.date.issued2023
dc.departmentNEÜen_US
dc.description.abstractAutosomal dominant hyper-IgE syndrome (AD-HIES) is an inborn error of immunity (IEI) caused by a dominant-negative mutation in the signal transducer and activator of transcription 3 (STAT 3). This disease is characterized by chronic eczematoid dermatitis, recurrent staphylococcal skin abscesses, pneumonia, pneumatoceles, and extremely high serum IgE levels. Loss-of-function STAT3 mutations may also result in distinct non-immunologic features such as dental, facial, skeletal, and vascular abnormalities, central nervous system malformations and an increased risk for bone fractures. Prophylactic treatment of Candida infections and prophylactic antimicrobial therapy for staphylococcal skin infections and sinopulmonary infections are essential. An awareness of the oral and maxillofacial features of HIES may facilitate early diagnosis with genetic counselling and may improve future patient care. This study describes oral, dental, and maxillofacial manifestations in 14 patients with genetically defined AD-HIES. We also review the literature and propose recommendations for the complex care of patients with this rare primary immunodeficiency.en_US
dc.description.sponsorshipFoundation for Children with Immunodeficiencies; J Projecten_US
dc.description.sponsorshipWe thank the patients and parents for helpful collaboration. This research was supported by the J Project and the Foundation for Children with Immunodeficiencies.en_US
dc.identifier.doi10.5114/ceji.2023.130874
dc.identifier.endpage236en_US
dc.identifier.issn1426-3912
dc.identifier.issn1644-4124
dc.identifier.issue3en_US
dc.identifier.pmid37901871en_US
dc.identifier.scopus2-s2.0-85175040518en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage228en_US
dc.identifier.urihttps://doi.org/10.5114/ceji.2023.130874
dc.identifier.urihttps://hdl.handle.net/20.500.12452/16643
dc.identifier.volume48en_US
dc.identifier.wosWOS:001091026700006en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTermedia Publishing House Ltden_US
dc.relation.ispartofCentral European Journal Of Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectDentisten_US
dc.subjectHyper-Ige Syndromeen_US
dc.subjectMaxillofacialen_US
dc.subjectIntraoral.en_US
dc.titleIntraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndromeen_US
dc.typeArticleen_US

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