Study on the Natural History, Genetics, and Management of Hyperimmunoglobulin E Syndromes Including STAT3 and DOCK8 Deficiencies

What this Trial Is About

Researchers are studying Hyper IgE Syndromes HIES, which are rare immune system disorders causing eczema and repeated skin and lung infections. This includes autosomal dominant HIES caused by STAT3 mutations, which affect multiple body systems like bones, blood vessels, and connective tissue. Another form involves DOCK8 mutations leading to severe viral infections and higher risks of cancer and death. The study aims to better understand these conditions by examining their causes, symptoms, and genetic factors. Participants include patients with confirmed or suspected HIES and their family members. They will undergo extensive clinical and genetic evaluations by a team of specialists and be followed over time. The study collects detailed information to clarify the different types of HIES, identify new genetic causes, and understand how the disease develops and affects the body. During the study, participants will have thorough medical exams, laboratory tests, and immunologic assessments to monitor disease features and quality of life. Researchers will track complications and treatment outcomes as they arise. The study involves long-term follow-up to gather information on disease progression and genetics. Up to 300 patients and 300 relatives are expected to take part in this observational research.

Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)