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Learn About Autosomal Dominant Hyper IgE Syndrome

What is the definition of Autosomal Dominant Hyper IgE Syndrome?
Autosomal dominant hyper IgE syndrome (AD-HIES), formerly known as Job syndrome, affects several body systems including the immune system. AD-HIES is characterized by abnormally high levels of an immune system protein called immunoglobulin E (IgE) in the blood. Signs and symptoms may include recurrent infections (e.g., pneumonia, skin infections), eczema, and occasionally bone and tooth abnormalities. The eczema and skin infections may cause rashes, blisters, collections of pus (abscesses), open sores, and scaling of the skin. Some cases of AD-HIES are caused by genetic changes in the STAT3 gene. In other cases, the cause is unknown.
What are the alternative names for Autosomal Dominant Hyper IgE Syndrome?
  • Autosomal dominant hyper IgE syndrome
  • AD hyperimmunoglobulin E syndrome
  • AD-HIES
  • HIES autosomal dominant
  • Hyper Ig E syndrome, autosomal dominant
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant
  • Job syndrome autosomal dominant
Who are the top Autosomal Dominant Hyper IgE Syndrome Local Doctors?
Andrew R. Gennery
Elite in Autosomal Dominant Hyper IgE Syndrome
Elite in Autosomal Dominant Hyper IgE Syndrome
Queen Victoria Road, 
Newcastle Upon Tyne, ENG, GB 

Andrew Gennery practices in Newcastle Upon Tyne, United Kingdom. Mr. Gennery is rated as an Elite expert by MediFind in the treatment of Autosomal Dominant Hyper IgE Syndrome. His top areas of expertise are Primary Immunodeficiency (PID), Severe Combined Immunodeficiency (SCID), Chronic Granulomatous Disease, Bone Marrow Transplant, and Heart Transplant.

Elite in Autosomal Dominant Hyper IgE Syndrome
Elite in Autosomal Dominant Hyper IgE Syndrome
Carl Neuberg Str. 1, 
Hannover, NI, DE 

Bodo Grimbacher practices in Hannover, Germany. Grimbacher is rated as an Elite expert by MediFind in the treatment of Autosomal Dominant Hyper IgE Syndrome. Their top areas of expertise are Common Variable Immune Deficiency, Hyper IgE Syndrome, Autosomal Dominant Hyper IgE Syndrome, Primary Immunodeficiency (PID), and Bone Marrow Transplant.

 
 
 
 
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Elite in Autosomal Dominant Hyper IgE Syndrome
Elite in Autosomal Dominant Hyper IgE Syndrome
Framlington Place, 
Newcastle Upon Tyne, ENG, GB 

Christo Tsilifis practices in Newcastle Upon Tyne, United Kingdom. Mr. Tsilifis is rated as an Elite expert by MediFind in the treatment of Autosomal Dominant Hyper IgE Syndrome. His top areas of expertise are Hyper IgE Syndrome, Autosomal Dominant Hyper IgE Syndrome, Antigen-Peptide-Transporter 2 Deficiency, Omenn Syndrome, and Bone Marrow Transplant.

What are the latest Autosomal Dominant Hyper IgE Syndrome Clinical Trials?
Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)

Summary: The Hyper IgE Syndromes (HIES) are primary immunodeficiencies resulting in eczema and recurrent skin and lung infections. Autosomal dominant Hyper IgE syndrome (AD-HIIES; Job's syndrome) is caused by STAT3 mutations, and is a multi-system disorder with skeletal, vascular, and connective tissue manifestations. Understanding how STAT3 mutations cause these diverse clinical manifestations is critical...

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Natural History, Genetics, Phenotype, and Treatment of Mycobacterial Infections

Summary: This study will examine the symptoms, course of disease and treatment of non-tuberculous mycobacterial (NTM) infections, as well as the genetics involved in these infections. Patients with NTM have recurrent lung infections and sometimes infections of the skin and other organs as well. They may also have curvature of the spine, barrel chest, and heart valve weakness. The study will compare the fea...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center