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.
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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
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What are the latest Autosomal Dominant Hyper IgE Syndrome Clinical Trials?
Related and Unrelated Donor Hematopoietic Stem Cell Transplant for DOCK8 Deficiency
Summary: Background:~-DOCK8 deficiency is a genetic disorder that affects the immune system and can lead to severe recurrent infections and possible death from infections or certain types of cancers, including blood cancers. A stem cell transplant is a life-saving treatment for this condition. In this study we are evaluating the efficacy and safety of transplant from different donor sources for DOCK8 defic...
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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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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Autosomal Dominant Hyper IgE Syndrome?
Primary atopic disorders and chronic skin disease.
Summary: Primary atopic disorders and chronic skin disease.
Investigating the Variation of TREC/KREC in Combined Immunodeficiencies.
Summary: Investigating the Variation of TREC/KREC in Combined Immunodeficiencies.
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Dupilumab for STAT3-Hyper-IgE Syndrome With Refractory Intestinal Complication.
Summary: Dupilumab for STAT3-Hyper-IgE Syndrome With Refractory Intestinal Complication.