Autosomal Dominant Hyper IgE SyndromeSymptoms, Doctors, Treatments, Advances & More
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.
CUIMC/NewYork-Presbyterian Morgan Stanley Children's Hospital
Joshua Milner is a leader in the field of discovery and immunopathogenesis of genetic diseases that lead to allergic symptoms. Among the disorders he has described and/or found major mechanistic insight are PLAID—an immune disorder that leads to lifelong cold urticaria, the glycosylation disorder PGM3 deficiency, ERBIN mutation, CARD11 dominant negative mutations, STAT3 gain-of-function, Hereditary Alpha Tryptasemia Syndrome, IL-6 receptor deficiency, and others. Dr. Milner graduated with an SB in biology from the Massachusetts Institute of Technology (MIT) in 1995 and an MD with distinction in immunology from the Albert Einstein College of Medicine. He completed his residency in pediatrics at the Children’s National Medical Center in Washington, DC, and, as the recipient of the Pediatric Scientist Development Program Fellowship, did his fellowship in allergy and immunology at NIAID. He completed a postdoctoral fellowship with Dr. William E. Paul, NIAID, examining issues of mouse T-cell receptor repertoires before beginning as an investigator in the Laboratory of Allergic Diseases in the NIAID, where he was eventually named chief.Dr. Milner's vision is to establish how genetic variation can help inform diagnosis and care of all patients with allergic disease—rare and common, severe and mild. This is achieved by performing genetic sequencing on samples from patients with allergic disease of all sorts, as well as performing functional studies on the same patient samples, which together help point to specific immune pathways that may be fundamentally causing disease. This comprehensive analysis, when performed in larger populations, will help personalize medicine so that patients can be better categorized for targeted care. Furthermore, this type of research and care requires a coordinated and comprehensive interdisciplinary approach, taking advantage of the expertise across the department of pediatrics and at multiple outpatient sites. Dr. Milner is rated as an Elite provider by MediFind in the treatment of Autosomal Dominant Hyper IgE Syndrome. His top areas of expertise are Autosomal Dominant Hyper IgE Syndrome, Hyper IgE Syndrome, Hereditary Alpha-Tryptasemia, and Multisystem Inflammatory Syndrome in Children (MIS-C).
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.
Background: Autosomal dominant hyper-IgE syndrome (HIES), also called Job syndrome, is a genetic disorder that affects the immune system. It can cause skin and lung infections and problems with blood vessels, connective tissues, and bones. People with HIES often have lupus-like disease or atopic dermatitis (skin rash). Researchers want to know if a drug approved to treat other immune system diseases (bariciti...
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

