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

• Authors: TAR Ildiko; SZEGEDI Marta; KRASUSKA-SLAWINSKA Ewa; HEROPOLITANSKA-PLISZKA Edyta; BERNATOWSKA Ewa a; ONCU Elif; KELES Sevgi; GUNER Sukru n; REISLI Ismail; GESHEVA Nevena; NAUMOVA Elissaveta; IZAKOVIČOVÁ HOLLÁ Lydie; LITZMAN Jiří; SAVCHAK Igor; KOSTYUCHENKO Larysa; ERDOS Melinda
• Year of publication: 2023
• Type: Article in Periodical
• Magazine / Source: CENTRAL EUROPEAN JOURNAL OF IMMUNOLOGY
• MU Faculty or unit: Faculty of Medicine
• Web: https://www.termedia.pl/Intraoral-and-maxillofacial-abnormalities-in-patients-with-autosomal-dominant-hyper-IgE-syndrome,10,51329,0,1.html
• Doi: http://dx.doi.org/10.5114/ceji.2023.130874
• Keywords: dentist; hyper-IgE syndrome; maxillofacial; intraoral.
• Description: Autosomal 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.