Autosomal recessive hyper-IgE syndrome
Autosomal recessive hyper-IgE syndrome (AR-HIES) is a disorder of the immune system. A hallmark feature of the condition is recurrent infections that are severe and can be life-threatening. Skin infections can be caused by bacteria, viruses, or
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Symptoms of Autosomal recessive hyper-IgE syndrome
Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms
- Asthma ...
Genetics of Autosomal recessive hyper-IgE syndrome
AR-HIES is usually caused by mutations in the DOCK8 gene. The protein produced from this gene plays a critical role in the survival and function of several types of immune system cells. One of the protein's functions
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See also causal information:
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Names and Terminology
Other Names for This Condition
- autosomal recessive HIES
- CID due to DOCK8 deficiency
- combined immunodeficiency due to DOCK8 deficiency
- DOCK8 deficiency
- DOCK8 immunodeficiency syndrome ...
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- Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ autosomal-recessive-hyper-ige-syndrome
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