chediak-higashi syndrome: from genetics to treatment

The book ＂Chediak-Higashi Syndrome: Comprehensive Analysis and Therapeutic Challenges＂ offers an in-depth study of this rare and complex disease. It covers the history, epidemiology and different forms of the disease, both classic and atypical. Detailed analysis of the pathophysiology highlights dysfunctions of the endolysosomal system, as well as the mechanisms responsible for albinism, immunodeficiency, recurrent infections, hemorrhages and neurological disorders. Genetic abnormalities are explored, including mutations in the lysosomal trafficking regulator gene and their impact on phenotype. The book examines clinical manifestations such as albinism, infections and neurological disorders, with a particular focus on the accelerated phase of the disease. Diagnosis is based on biological, hematological, prenatal and neuroimaging examinations. Therapeutic strategies include symptomatic treatment, allogeneic hematopoietic stem cell transplantation and gene therapy, with assessment of prognosis and survival prospects.