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

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.

Základní údaje

Originální název

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

Autoři

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 Česká republika, domácí), Jiří LITZMAN (203 Česká republika, domácí), Igor SAVCHAK, Larysa KOSTYUCHENKO a Melinda ERDOS (garant)

Vydání

CENTRAL EUROPEAN JOURNAL OF IMMUNOLOGY, POZNAN, TERMEDIA PUBLISHING HOUSE LTD, 2023, 1426-3912

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30102 Immunology

Stát vydavatele

Polsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 1.300 v roce 2022

Kód RIV

RIV/00216224:14110/23:00132409

Organizační jednotka

Lékařská fakulta

DOI

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

UT WoS

001091026700006

Klíčová slova anglicky

dentist; hyper-IgE syndrome; maxillofacial; intraoral.

Štítky

14110114, 14110130, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 4. 12. 2023 14:37, Mgr. Tereza Miškechová

Anotace

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.

Citovat

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, Jiří LITZMAN, Igor SAVCHAK, Larysa KOSTYUCHENKO a Melinda ERDOS. Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome. CENTRAL EUROPEAN JOURNAL OF IMMUNOLOGY. POZNAN: TERMEDIA PUBLISHING HOUSE LTD, 2023, roč. 48, č. 3, s. 228-236. ISSN 1426-3912. Dostupné z: https://dx.doi.org/10.5114/ceji.2023.130874.

@article{2345960,
   author = {Tar, Ildiko and Szegedi, Marta and KrasuskaandSlawinska, Ewa and HeropolitanskaandPliszka, Edyta and Bernatowska, Ewa a and Oncu, Elif and Keles, Sevgi and Guner, Sukru n and Reisli, Ismail and Gesheva, Nevena and Naumova, Elissaveta and Izakovičová Hollá, Lydie and Litzman, Jiří and Savchak, Igor and Kostyuchenko, Larysa and Erdos, Melinda},
   article_location = {POZNAN},
   article_number = {3},
   doi = {http://dx.doi.org/10.5114/ceji.2023.130874},
   keywords = {dentist; hyper-IgE syndrome; maxillofacial; intraoral.},
   language = {eng},
   issn = {1426-3912},
   journal = {CENTRAL EUROPEAN JOURNAL OF IMMUNOLOGY},
   title = {Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome},
   url = {https://www.termedia.pl/Intraoral-and-maxillofacial-abnormalities-in-patients-with-autosomal-dominant-hyper-IgE-syndrome,10,51329,0,1.html},
   volume = {48},
   year = {2023}
}

TY  - JOUR
ID  - 2345960
AU  - 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
PY  - 2023
TI  - Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome
JF  - CENTRAL EUROPEAN JOURNAL OF IMMUNOLOGY
VL  - 48
IS  - 3
SP  - 228-236
EP  - 228-236
PB  - TERMEDIA PUBLISHING HOUSE LTD
SN  - 14263912
KW  - dentist
KW  - hyper-IgE syndrome
KW  - maxillofacial
KW  - intraoral.
UR  - https://www.termedia.pl/Intraoral-and-maxillofacial-abnormalities-in-patients-with-autosomal-dominant-hyper-IgE-syndrome,10,51329,0,1.html
N2  - 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.
ER  -

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, Jiří LITZMAN, Igor SAVCHAK, Larysa KOSTYUCHENKO a Melinda ERDOS. Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome. \textit{CENTRAL EUROPEAN JOURNAL OF IMMUNOLOGY}. POZNAN: TERMEDIA PUBLISHING HOUSE LTD, 2023, roč.~48, č.~3, s.~228-236. ISSN~1426-3912. Dostupné z: https://dx.doi.org/10.5114/ceji.2023.130874.

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