Table 2.

Chediak-Higashi Syndrome: Phenotypic Continuum

FeatureDegree of Involvement 1
Oculocutaneous albinismRanges from mild/moderate in classic CHS to mild/absent in atypical CHS
Immunodeficiency / increased risk of infectionRanges from infantile onset of frequent and often severe infections in classic CHS to absence of a noticeable increase in severity or frequency of infections in atypical CHS
Bleeding tendencySimilar bleeding diathesis in all individuals with CHS
Neurologic involvementWide-ranging and nonspecific features in all individuals with CHS.
Hemophagocytic lymphohistiocytosis 2Occurs in the majority of individuals with CHS who have not undergone hematopoietic stem cell transplantation.
1.

The same CHS-related features are present in nearly all individuals with classic and atypical CHS but to a very variable degree.

2.

Also called "accelerated phase"

From: Chediak-Higashi Syndrome

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