Clinical and Molecular Study of Chediak-Higashi Syndrome and Related Disorders Including Evaluation of Neurological and Immune System Symptoms

What this Trial Is About

This research focuses on Chediak-Higashi Syndrome CHS, a rare inherited disorder affecting the immune system and other body functions. It commonly causes albinism, bleeding problems, frequent infections, and can progress to a severe stage called the accelerated phase. The study aims to better understand the full range of CHS symptoms, including neurological issues, and the genetic causes related to the LYST gene and possible other genetic factors. Participants with confirmed or suspected CHS will be evaluated clinically, biochemically, and through molecular testing. The study involves examining patients skin cells, pigment cells, and immune cells in the lab to learn more about the disease mechanisms. Routine hospital admissions last 3 to 5 days and may be scheduled every one to two years or whenever symptoms change. During the study, participants will undergo clinical exams and laboratory tests during these admissions. Researchers will assess disease features and perform genetic mutation analysis to explore links between genes and symptoms. The main outcome is to describe the clinical and laboratory findings in CHS and its variants. This observational study helps improve understanding of CHS over time, with monitoring visits spaced by years and tailored to patient needs.

Study of Chediak-Higashi Syndrome