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Chediak-Higashi syndrome: causes, symptoms, diagnosis, treatment
Last reviewed: 07.07.2025
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Chediak-Higashi syndrome is characterized by impaired lysis of phagocytized bacteria, resulting in recurrent bacterial respiratory and other infections, and albinism of the skin and eyes.
Chediak-Higashi syndrome is rare and is inherited in an autosomal recessive manner. The syndrome is a consequence of a mutation in the gene responsible for regulating intracellular protein transport. In neutrophils and other cells (melanocytes, Schwann cells), huge lysosomal granules are formed. Abnormal lysosomal granules cannot fuse with phagosomes, so the ingested bacteria are not lysed.
Clinical manifestations include ocular and cutaneous albinism and susceptibility to respiratory and other infections. Acute disease with fever, jaundice, hepatosplenomegaly, lymphadenopathy, pancytopenia, hemorrhagic diathesis, and neurologic changes is observed in 85% of patients. Acute disease in Chédiak-Higashi syndrome is usually fatal within 30 months. Transplantation of unfractionated HbA-identical bone marrow after pretransplant cytoreductive chemotherapy may be successful.
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