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Article

Chediak-Higashi syndrome.

Current opinion in hematology - 1 Jul 2023

Talbert Mackenzie L, Malicdan May Christine V, Introne Wendy J

Abstract excerpt

PURPOSE OF REVIEW: Chediak-Higashi syndrome is a rare autosomal recessive disorder characterized by congenital immunodeficiency, bleeding diathesis, pyogenic infection, partial oculocutaneous albinism, and progressive neurodegeneration. Treatment is hematopoietic stem cell transplantation or bone marrow transplantation; however, this does not treat the neurologic aspect of the disease. Mutations in the lysosomal...

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Identifiers

PMID: 37254856
DOI: 10.1097/MOH.0000000000000766
PMCID: PMC10501739

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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