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Job syndrome



Job syndrome Definition


It was in the year 1966 that the Job syndrome was first described as the hyper-IgE/HIE or hyperimmunoglobulin E syndrome which is a very rare immunodeficiency disease. This disorder can be inherited in an autosomal dominant pattern. HIE has changing expressivity and is linked with several other abnormalities. The general findings are recurring abscesses of the skin (this is why it is called the Job syndrome, derived from the biblical character Job); high IgE serum levels; pneumonia which comes with pneumatocele development; and dental, facial or skeletal defects. Most cases of this disorder are sporadic but there are cases of multiplex families who display autosomal recessive and autosomal dominant inheritance. Autosomal recessive individuals usually have acute molluscum contagiosm. Also, it is possible for neurological complications to develop because of other viral infections. The patients also lack dental or skeletal involvement and they do not develop cysts of the lungs. A few authorities have the belief that 2 separate syndromes are in existence, not just one.


Job syndrome Frequency


This syndrome is considered to be a rare disorder globally. Only 250 cases have ever been published.


Job syndrome Mortality/Morbidity


The morbidity of the illness is highly notable. Majority of the patients suffer from severe pulmonary and cutaneous diseases. Most of them also suffer from scoliosis and numerous fractures of the bone. The systemic infections affect the mortality rate of the disorder.


Job syndrome Pathophysiology


The pathophysiology of this disorder is still not completely understood. Patients who suffer from it frequently have a delayed or poor hypersensitivity antigen response. This delay on the response is linked with changes in T-lymphocyte populations and varying types of cytokine and interleukin abnormalities. Among the earliest records of pathophysiology records a chemotactic abnormality in neutrophils. This abnormality has been attributed ever since to abnormal production of interferon-gamma (which is a key activator of neutrophils when it is stimulated by interleukin or IL-12). The low production of interferon-gamma following the IL-12 often results in the distinct IgE level elevation (through unopposed action of IL-4). Other factors are described in the unusual immunologic response. HIE patients have high levels of granulocyte-macrophage (which is a stimulus) which could explain the low chemotaxis and an increase in the production of oxygen radicals and tissue defects. Cytokine irregularities seem to play a role in Job syndrome’s pathophysiology, although, the gene that causes this remains unidentified. A significantly great number of genes that are immunoglobulin-related were discovered to have an up-regulation on this syndrome. These distinct patterns could improve understanding of the disease’s pathophysiology and, probably, its diagnosis.


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