J 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:

URL

Impact factor

Impact factor: 1.300 in 2022

RIV identification code

RIV/00216224:14110/23:00132409

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.5114/ceji.2023.130874

UT WoS

001091026700006

Keywords in English

dentist; hyper-IgE syndrome; maxillofacial; intraoral.

Tags

14110114, 14110130, rivok

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.
Displayed: 31/10/2024 22:12