Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome
Küçük Resim Yok
Tarih
2023
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Termedia Publishing House Ltd
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Dentist, Hyper-Ige Syndrome, Maxillofacial, Intraoral.
Kaynak
Central European Journal Of Immunology
WoS Q Değeri
Scopus Q Değeri
Q3
Cilt
48
Sayı
3
