Detailed Information on Publication Record
2023
Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome
TAR, Ildiko, Marta SZEGEDI, Ewa KRASUSKA-SLAWINSKA, Edyta HEROPOLITANSKA-PLISZKA, Ewa a BERNATOWSKA et. al.Basic information
Original name
Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome
Authors
TAR, Ildiko, Marta SZEGEDI, Ewa KRASUSKA-SLAWINSKA, Edyta HEROPOLITANSKA-PLISZKA, Ewa a BERNATOWSKA, Elif ONCU, Sevgi KELES, Sukru n GUNER, Ismail REISLI, Nevena GESHEVA, Elissaveta NAUMOVA, Lydie IZAKOVIČOVÁ HOLLÁ (203 Czech Republic, belonging to the institution), Jiří LITZMAN (203 Czech Republic, belonging to the institution), Igor SAVCHAK, Larysa KOSTYUCHENKO and Melinda ERDOS (guarantor)
Edition
CENTRAL EUROPEAN JOURNAL OF IMMUNOLOGY, POZNAN, TERMEDIA PUBLISHING HOUSE LTD, 2023, 1426-3912
Other information
Language
English
Type of outcome
Článek v odborném periodiku
Field of Study
30102 Immunology
Country of publisher
Poland
Confidentiality degree
není předmětem státního či obchodního tajemství
References:
Impact factor
Impact factor: 1.300 in 2022
RIV identification code
RIV/00216224:14110/23:00132409
Organization unit
Faculty of Medicine
UT WoS
001091026700006
Keywords in English
dentist; hyper-IgE syndrome; maxillofacial; intraoral.
Tags
International impact, Reviewed
Změněno: 4/12/2023 14:37, Mgr. Tereza Miškechová
Abstract
V originále
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.