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

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00159816%3A_____%2F23%3A00079508" target="_blank" >RIV/00159816:_____/23:00079508 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216224:14110/23:00132409

Výsledek na webu

<a href="https://www.termedia.pl/Intraoral-and-maxillofacial-abnormalities-in-patients-with-autosomal-dominant-hyper-IgE-syndrome,10,51329,1,1.html" target="_blank" >https://www.termedia.pl/Intraoral-and-maxillofacial-abnormalities-in-patients-with-autosomal-dominant-hyper-IgE-syndrome,10,51329,1,1.html</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.5114/ceji.2023.130874" target="_blank" >10.5114/ceji.2023.130874</a>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

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OECD FORD obor

30102 - Immunology

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2023

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Central European Journal of Immunology

ISSN

1426-3912

e-ISSN

1644-4124

Svazek periodika

48

Číslo periodika v rámci svazku

3

Stát vydavatele periodika

PL - Polská republika

Počet stran výsledku

9

Strana od-do

228-236

Kód UT WoS článku

001091026700006

EID výsledku v databázi Scopus

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