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P674: Designing cell therapy for the CNS manifestations of CHS murine models

Year: 2026

Type: conference-abstract

Abstract: Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in LYST. Patients present with primary immunodeficiency, partial oculocutaneous albinism, bleeding tendencies, neurodevelopmental issues, and progressive neurologic dysfunction. The manifestations of neurologic degeneration in CHS vary widely; some young patients present with central nervous system (CNS) findings including learning disabilities or cognitive issues, while others manifest parkinsonism-like symptoms or even length-dependent neuropathies later in life.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2026.104164

Authors: Jocelyn Hernandez, Mackenzie Talbert, Mahin Hossain, Wendy Introne, William Gahl, May Christine Malicdan

Institutions: National Human Genome Research Institute, National Institutes of Health

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,200

OpenAlex ID: W7133664829

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