Ildikó Tar, Márta Szegedi, Ewa Krasuska-Sławińska, Edyta Heropolitańska-Pliszka, Ewa A Bernatowska, Elif Öncü, Sevgi Keles, Sukru N Guner, Ismail Reisli, Nevena Gesheva, Elissaveta Naumova, Lydie Izakovicova-Holla, Jiri Litzman, Igor Savchak, Larysa Kostyuchenko, Melinda Erdõs
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...
2023: Central-European Journal of Immunology