Hyper ige syndrome3/21/2023 More than 90 different mutations have been reported. The transmission of this syndrome is autosomal dominant and variable expressivity. Job syndrome is due to a mutation in the STAT3 gene in more than two-thirds of cases (70%). These are further subdivided into TYK2 deficiency, DOCK8 deficiency, according to a molecular abnormality, and one of unknown origin. Most recently, the International Union of Immunology Societies describes primary immunodeficiencies (PID) with well-defined syndromes as AD-HIES (Job syndrome) and 3 subtypes of AR-HIES that do not present skeletal or pneumatoceles alterations. Type II: Autosomal recessive hyper-IgE syndrome (AR-HIES), which also affects the immune system, manifesting in high IgE, recurrent skin and lung infections, sensitivity to viral infections such as molluscum contagiosum, and central nervous system (CNS) involvement, but does not have musculoskeletal alterations. Type I: Autosomal dominant hyper-IgE syndrome (AD-HIES), in which patients have abnormalities in different systems, including the immune system, connective tissue, skeletal and vascular among others.reported the association of this condition with increased serum immunoglobulin E (hyper-IgE) levels and a series of phenotypic features called HIES. first described reported "Job syndrome" in 1966 in two patients with eczema, recurrent pulmonary infections, and cold lung abscesses. Furthermore, there are elevated IgE levels of early-onset in primary childhood.ĭavid et al. Hyper-IgE syndrome (HIES) is a rare, primary immunodeficiency distinguished by the clinical triad of atopic dermatitis, recurrent skin staphylococcal infections, and recurrent pulmonary infections. Summarize the interprofessional team's strategies for improving care coordination and communication regarding the management of patients with Job syndrome.Describe the pathophysiology of Job syndrome.Outline the risk factors of developing Job syndrome.Explain the differential diagnosis of Job syndrome.This activity reviews the evaluation and management of Job syndrome and highlights the role of the interprofessional team in educating patients about their prognosis. The disease is characterized by elevated IgE levels with an early onset in primary childhood. Job Syndrome (Hyper-IgE syndrome) is a rare, primary immunodeficiency distinguished by the clinical triad of atopic dermatitis, recurrent skin staphylococcal infections, and recurrent pulmonary infections.
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