Chediak-Higashi syndrome

Last reviewed 01/2018

Chediak-Higashi syndrome is a rare autosomal recessive disorder.

The clinically important features are:

  • severe immune deficiency
  • predisposition to lymphoreticular malignancy
  • neuropathy
  • bleeding diathesis

The underlying cause for these defects is an abnormality in the structure and function of subcellular membranes (1q43 mutation). A similar defect is seen in the Hermansky-Pudlak syndrome.

  • risk of haemophagocytic lymphohistiocytosis is estimated at 85% (2)
  • clinical history in CHS is typically remarkable for recurrent and severe bacterial infections since childhood
    • skin and respiratory tract are mainly involved; Staphylococcus and Streptococcus are the species most frequently isolated
  • patients who survive into early adulthood may develop motor and sensory neuropathies, balance abnormalities, ataxia, tremor, absent deep-tendon reflexes, and low cognitive abilities. In addition, neurologic symptoms can also be observed in older patients presenting with an atypical, milder form of CHS, manifesting with dementia, parkinsonism, peripheral neuropathy


  • 1) Ramsay, M.. Protein trafficking violations. Nature Genet. 1996;14:242-244.
  • 2) Introne WJ, Westbroek W, Golas GA, Adams D. In: GeneReviews. Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editor. Seattle (WA): University of Washington, Seattle; 2009. Chediak-Higashi syndrome.