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 ...1

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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 ...2

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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 ...3

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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 ...4

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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 ...5

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Names and Terminology

Other Names for This Condition

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ autosomal-dominant-hyper-ige-syndrome
  2. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 6800/ autosomal-dominant-hyper-ige-syndrome
  3. ibid.
  4. ibid.
  5. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ autosomal-dominant-hyper-ige-syndrome

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