Chediak-Higashi Syndrome

Researchers are investigating Chediak-Higashi syndrome (CHS), a rare inherited disorder that causes symptoms like oculocutaneous albinism, bleeding problems, frequent infections due to immune cell dysfunction, and often progresses to a severe phase with lymphohistiocytic infiltration. The study explores the broader clinical spectrum of CHS, including milder variants and neurological involvement, especially in patients who survive bone marrow transplantation. The underlying genetic and cellular causes, including mutations in the LYST gene and possible abnormalities in vesicle fusion within cells, are still not fully understood. The study involves clinical, biochemical, and molecular evaluations of individuals with CHS and related disorders. Researchers will perform detailed cell biology studies using patient fibroblasts, melanocytes, and transformed lymphoblasts. Participants may be admitted routinely for 3 to 5 days every one to two years, or more often if clinical symptoms change, to support thorough assessment and monitoring. During participation, patients undergo clinical exams and laboratory tests to detail their disease characteristics and genetic analyses focusing on the LYST gene. The main outcome is to clarify the clinical and laboratory features of CHS and its variants over these multi-day admissions. Mutation analysis aims to better understand genotype-phenotype links and possible genetic diversity. The study is observational, and patients are followed long-term to capture disease progression and changes.