Pillole: per capire
Clinica Pediatrica, Università di Brescia
Indirizzo per corrispondenza: firstname.lastname@example.org
Key words: Dermatitis, Hyper IgE syndrome, Job Syndrome
A case of Job syndrome is presented. Job syndrome is linked to a dominant autosomal disorder of the gene that codifies an intracellular protein whose function is the transduction of receptorial signals from the membrane to the nucleus. This central disorder explains the diversity and the complexity (resistance defect against staphylococcus, skeletal or facial alterations, IgE hyper production) of the syndrome in relation to other genetic disorders affecting only the immune system or only the mesenchyme. The first manifestation is a resistant dermatitis, with neonatal onset, while infections (staphylococcal, with pneumatoceles and cold granulomas), skeletal disorders (scoliosis and others) and hypereosinophilia with high IgE levels appear later.
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