Chediak–Higashi syndrome

Also known as: CHS

Partial albinism, immunodeficiency and giant lysosomes with accelerated phase.

Medical specialty: Hematology
Subspecialty: Hematology / Platelet disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: LYST

Etiology & mechanism

LYST defect in lysosomal trafficking.

Gene(s) involved (1)

LYST

Symptoms & signs (6)

bleedinggiant granules in leukocyteshemophagocytic lymphohistiocytosisneuropathypartial albinismrecurrent infections

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.