Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive

Common Name(s)

Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive, Autosomal recessive hyper IgE syndrome

Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE), recurrent staphylococcal skin abscesses, and recurrent pneumonia. The same features are also seen in the more frequent autosomal dominant HIES syndrome. AR-HIES accounts for only a small minority of HIES cases, with about 130 affected families reported so far.

In contrast to AD-HIES, the AR variant is further characterized by extreme hypereosinophilia (increase in the eosinophil count in the bloodstream); susceptibility to viral infections such as Herpes simplex and Molluscum contagiosum; involvement of the central nervous system; T-cell defects; and a high death rate. The dental, skeletal, connective tissue, and facial features present in AD-HIES are absent in AR-HIES. AR-HIES is inherited in an autosomal recessive fashion and is caused by mutations in the DOCK8 gene.

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Pilot Study of Reduced-Intensity Hematopoietic Stem Cell Transplant of DOCK8 Deficiency
 

Status: Recruiting

Condition Summary: DOCK8 Deficiency

 

Last Updated: 6 Jun 2014

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Apheresis of Patients With Immunodeficiency
 

Status: Recruiting

Condition Summary: LAD-1; DOCK8; MonoMAC

 

Last Updated: 14 Mar 2014

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