Bone marrow - nonneoplastic
Systemic disorders
Chédiak-Higashi syndrome

Topic Completed: 01 December 2006

Revised: 9 January 2019

Copyright: (c) 2002-2019,, Inc.

PubMed Search: Bone marrow Chédiak-Higashi syndrome

Page views in 2018: 853
Page views in 2019 to date: 54
Cite this page: Pernick N Chédiak-Higashi syndrome. website. Accessed January 21st, 2019.
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