Hyperimmunoglobulin E syndrome

Hyperimmunoglobulin E syndrome, usually referred to as Hyper IgE syndrome on the series, is a group of rare genetic autoimmune disorders which all cause low production of a form of interferon ("gamma"). The most common type is commonly referred to as Job's syndrome (after the biblical figure) or Buckley syndrome (after the doctor to identify it as a separate disorder). 
The condition is characterized by recurrent staphylococcus infections which usually cause abscesses, rash, and lung infections leading to lesions. The disease is usually confirmed by higher results of a form of immunoglobulin, Type "E", in the blood.
In most cases, symptoms appear in childhood. Patients typically have developmental abnormalities in the bones, face, and teeth, including late shedding or complete failure to shed the "baby teeth". Facial features include asymmetry, pronounced forehead, deep set eyes, a broad nasal bridge with a fleshy nasal tip, and a slightly pronounced jaw. Facial pores are usually large.
Patients are treated with a lifetime course of antibiotics to ward off infections, as well as doses of gamma globulin to treat the skin symptoms.
Hyperimmunoglobulin E syndrome at Wikipedia
Category:Autoimmune diseases
Category:Genetics