Hyper IgE Syndromes
- Авторлар: Gracci S.1, Novelli T.2, D'Elios S.2, Bernardini R.3, Peroni D.2
-
Мекемелер:
- Paediatric Unit,, "San Giuseppe" Hospita
- Department of Clinical and Experimental Medicine, Section of Pediatrics, University of Pisa
- Paediatric Unit,, "San Giuseppe" Hospital
- Шығарылым: Том 20, № 3 (2024)
- Беттер: 253-264
- Бөлім: Medicine
- URL: https://journals.eco-vector.com/1573-3963/article/view/645552
- DOI: https://doi.org/10.2174/1573396320666230912103124
- ID: 645552
Дәйексөз келтіру
Толық мәтін
Аннотация
The Hyper IgE Syndromes are rare primary immunodeficiencies characterized by eczema, recurrent skin and respiratory infections and elevated serum IgE levels. Nowadays a genetic-molecular characterization is possible and allows the distinction in various monogenic pathologies, which share some clinical characteristics but also important differences. In addition to long-known STAT3 and DOCK8 gene mutations, in fact, also ZNF341, CARD11, ERBB2IP, IL6R and IL6ST genes mutations can cause the disease. The main clinical manifestations are represented by newborn rash, eczema similar to atopic dermatitis, bacterial and viral skin infections, cold abscesses, respiratory infections with possible pulmonary complications, allergies, gastrointestinal manifestations, malignancies and connective tissue abnormalities. Diagnosis is still a challenge because, especially in the early stages of life, it is difficult to distinguish from other pathologies characterized by eczema and high IgE, such as atopic dermatitis. Several scores and diagnostic pathways have been developed, but it is essential to seek a genetic diagnosis. Treatment is based on prevention and early treatment of infections, meticulous skincare, intravenous immunoglobulins and HSCT, which, in some HIES subtypes, can modify the prognosis. Prognosis is related to the affected gene, but also to early diagnosis, timely treatment of infections and early HSCT.
Негізгі сөздер
Авторлар туралы
Serena Gracci
Paediatric Unit,, "San Giuseppe" Hospita
Хат алмасуға жауапты Автор.
Email: info@benthamscience.net
Tommaso Novelli
Department of Clinical and Experimental Medicine, Section of Pediatrics, University of Pisa
Email: info@benthamscience.net
Sofia D'Elios
Department of Clinical and Experimental Medicine, Section of Pediatrics, University of Pisa
Email: info@benthamscience.net
Roberto Bernardini
Paediatric Unit,, "San Giuseppe" Hospital
Email: info@benthamscience.net
Diego Peroni
Department of Clinical and Experimental Medicine, Section of Pediatrics, University of Pisa
Email: info@benthamscience.net
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