Autosomal dominant hyper-IgE syndrome
Autosomal dominant hyper-IgE syndrome (AD-HIES), also known as Job syndrome, is a condition that affects several body systems, particularly the immune system. Recurrent infections are common in people with this condition. Affected individuals tend to have frequent bouts
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Symptoms of Autosomal dominant hyper-IgE syndrome
Symptoms:
Recurrent infections are common in people with autosomal dominant hyper IgE syndrome (AD-HIES). Affected individuals tend to have frequent bouts of pneumonia, which are caused by certain kinds of bacteria that infect the lungs and cause inflammation. Recurrent skin infections
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Causes of Autosomal dominant hyper-IgE syndrome
Cause:
Most cases of AD-HIES are caused by mutations in the STAT3 gene . This gene provides instructions for making a protein that plays an important role in several body systems. The STAT3 protein is involved in controlling the activity
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Diagnosis of Autosomal dominant hyper-IgE syndrome
Diagnosis:
The diagnosis of autosomal dominant hyper IgE syndrome (AD-HIES) is most often made based on a combination of clinical and laboratory findings. Diagnostic guidelines have been developed that include both immunologic /infectious manifestations and skeletal/connective tissue abnormalities
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Genetics of Autosomal dominant hyper-IgE syndrome
Genetic Changes:
Mutations in the STAT3 gene cause most cases of AD-HIES. This gene provides instructions for making a protein that plays an important role in several body systems. To carry out its roles, the STAT3 protein attaches to
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Similar Topic Articles
Names and Terminology
Other Names for This Condition
- AD-HIES
- autosomal dominant HIES
- autosomal dominant hyper-IgE recurrent infection syndrome
- autosomal dominant hyperimmunoglobulin E recurrent infection syndrome
- autosomal dominant Job syndrome ...
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References
- Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ autosomal-dominant-hyper-ige-syndrome
- Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 6800/ autosomal-dominant-hyper-ige-syndrome
- ibid.
- ibid.
- Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ autosomal-dominant-hyper-ige-syndrome
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