Bone marrow nonneoplastic

Noninfectious systemic disorders

Chédiak-Higashi syndrome

Last author update: 1 December 2006
Last staff update: 14 May 2021

Copyright: 2002-2019,, Inc.

PubMed Search: Bone marrow Chédiak-Higashi syndrome

Nat Pernick, M.D.
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Cite this page: Pernick N. Chédiak-Higashi syndrome. website. Accessed June 3rd, 2023.
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

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Giant inclusion bodies

Positive stains
  • Granules: myeloperoxidase
Differential diagnosis
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