Job syndrome

The National Organization for Rare Disorders, Inc. (NORD, 1999) states that Job syndrome (JS) is a congenital immunodeficiency disorder that is characterized by recurrent bacterial (staphylococcal) infections that focus primarily on the skin. JS is a very rare disorder that affects an equal number of males and females. Symptoms of JS are present at birth or early childhood. JS causes extremely elevated immunoglobulin E (IgE) levels. JS is also known as HIE syndrome, hyper-IgE syndrome, hyperimmunoglobulin E syndrome, hyperimmunoglobulin E staphylococcal, and Job-Buckley syndrome (NORD, 1999). Eppinger, Greenberger, White, Brown, and Cunningham-Rundles (1999) report that patients with JS have increased susceptibility of catching bacterial and fungal infections. The staphylococcal infection is the most common infection to attack patients with JS and may involve the skin, lungs, joints, and other sites. More rarely, a patient with JS will develop a potentially deadly Aspergillus species infection (Eppinger et al., 1999). NORD (1999) reported that JS, like other immune disorders, may impair the white blood cells (neutrophils) that destroy bacteria, cell debris, and solid particles in the blood. JS can be inherited through an autosomal dominant trait. This means that in order for a child to inherit JS, both parents must be carriers and have one normal gene and one recessive gene for JS. There is a 25% chance that a child of two carriers will receive a JS gene from both parents. A child of this couple would have a 50% chance of being a genetic carrier of JS and a 25% chance of receiving both normal genes (NORD, 1999). The minimum criteria for a diagnosis of JS can be made on the basis of the presence of elevated IgE levels, a history of staphylococcal pulmonary infections, and the presence of an eczematous skin rash.


 


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