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.

Dental Surgical Clinic for Children Children's Memorial Health Institute Warsaw Poland

Department of Clinical Immunology and Allergology St Anne's University Hospital Faculty of Medicine Masaryk University Brno Czech Republic

Department of Clinical Immunology and Stem Cell Bank University Hospital Aleksandrovska Sofia Bulgaria

Department of Immunology Children's Memorial Health Institute Warsaw Poland

Department of Pediatric Immunology and Rheumatology Western Ukrainian Specialized Children's Medical Center Lviv Ukraine

Department of Periodontology Lokman Hekim University Ankara Turkey

Department of Stomatology St Anne's University Hospital Faculty of Medicine Masaryk University Brno Czech Republic

Division of Pediatric Allergy and Immunology Necmettin Erbakan University Konya Turkey

Faculty of Dentistry University of Debrecen Debrecen Hungary

J Project Education and Research Network Debrecen Hungary

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