Background. Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, immunodeficiency, coagulopathy and late-onset, progressive neurological dysfunction. It also has an "accelerated phase" characterized by hemophagocytic lymphohistiocytosis (HLH). The disease is caused by mutations in the CHS1/LYST gene located on chromosome 1, which affec...

Studies have demonstrated significant heterogeneity in neutrophil granule morphology and physical density. Using cytochemical methods to localize peroxidase and vicinal glycol containing complex carbohydrates we examined the heterogeneity of neutrophil granules from intact human neutrophil granules in 13 isolated granule density fractions, calcium ionophore A23187 treated neutrophils and neutro...

Following biosynthesis, class II MHC molecules are transported through a lysosome-like compartment, where they acquire antigenic peptides for presentation to T cells at the cell surface. This compartment is characterized by the presence of HLA-DM, which catalyzes the peptide loading process. Here we report that the morphology and function of the class II loading compartment is affected in disea...

A 18-month-old girl with a diagnosis of Chediak-Higashi syndrome (CHS) presented with severe bacterial skin infection. Recurrent episodes of bacterial infections began at the age of 2 months. On physical examination, generalized lymphadenopathy, hepatosplenomegaly, skin hypopigmentation, and silvery hair were noted. Bone marrow aspirate revealed prominent granules (top left and right) within th...

The Chediak-Higashi syndrome (CHS) trait is expressed in cultured human skin fibroblasts as an abnormal perinuclear concentration of moderately enlarged lysosomes. The cytoskeleton of CHS fibroblasts appears intact. Microtubules are normal in number and morphology, as assessed by colchicine binding studies, antitubulin immunofluorescence, and electron microscopy. Deformability by shear force is...