Hyper IgE syndrom suspect - Case Report
Keywords
- Hyper IgE Syndrome
- Job Syndrome
- Buckley Syndrome
- Immunoglobulin E
- Dermatitis
- Recurrent infections
- Genetic mutations (STAT3, Tyk2, DOCK8)
- Genetic diagnosis
- Immunological treatment
- Respiratory complications.
- Síndrome de hiper IgE
- Síndrome de Job
- Síndrome de Buckley
- Imunoglobulina E
- Dermatite
- Infecções recorrentes
- Mutações genéticas (STAT3, Tyk2, DOCK8)
- Diagnóstico genético
- Tratamento imunológico
- Complicações respiratórias.
Abstract
Introduction: Hyper IgE syndrome (HIES) is a rare condition of the immune system characterized by various types of infections throughout life. This syndrome can be divided into two types, dominant heterozygous related to STAT3 gene mutation and recessive homozygous, which can also be subdivided into two groups related to Tyk2 and DOCK8 gene mutations, each presenting variations in their clinical presentations. Diagnosis is based on genetic sequencing, although there are some symptoms, clinical factors, and hereditary factors that can assist in diagnosis. There is no specific treatment for this pathology, with the main focus being on controlling infections and infusing immunological therapies such as intravenous immunoglobulin G.
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Copyright (c) 2024 International Seven Journal of MultidisciplinaryAuthor(s)
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Marcos Igor Albanaz Vargas
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Lucas Albanaz Vargas
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Giuseppe Muccini de Carvalho Cavalcanti Fernandes
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Eunilson Alves de Lima Junior