Autosomal Dominant Hyper IgE Syndrome Overview
Learn About 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
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.
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.
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.
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...
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...
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center
