Bone marrow - nonneoplastic
Systemic disorders
Chédiak-Higashi syndrome

Author: Nat Pernick, M.D. (see Authors page)

Revised: 27 June 2017, last major update December 2006

Copyright: (c) 2002-2017,, Inc.

PubMed Search: Bone marrow Chédiak-Higashi syndrome

Cite this page: Chédiak-Higashi syndrome. website. Accessed October 19th, 2018.
Definition / general
  • Rare autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport
  • Gene was characterized in 1996 as the LYST or CHS1 gene on 1q42-43 (OMIM: Lysosomal Trafficking Regulator; LYST)
  • Mutations cause megagranules in promyelocytes and myeloblasts, which persist in mature forms and are associated with neutropenia and recurrent pyogenic infections
  • Patients also have partial albinism (decreased hair and eye pigmentation), photophobia, nystagmus
  • Scalp hair analysis may also be useful for diagnosis (Clinics (Sao Paulo) 2006;61:327)
  • Bone marrow transplantation for childhood onset cases is curative; disease is otherwise fatal
Microscopic (histologic) description
Peripheral smear images

Images hosted on other servers:

Giant inclusion bodies

Positive stains
  • Granules: myeloperoxidase
Differential diagnosis