Studies of granulocyte chemotaxiswere Higashi mink generated normal performed in mink with the Chediakamounts of chemotactic factors. The Higashi syndrome. In vivo migration cellular defect in leukocyte chemotaxis of leukocytes to an inflammatory site in mink is comparable to that observed was reduced in the affected animals. in humans with the Chediak-Higashi In vitro studies documented a cons...

Chediak-Higashi syndrome which appears to be a lysosomal disease (Douglas and Fudenberg, 1969; White, 1966) is characterized by partial albinism, photophobia, recurrent infections, hepatosplenomegaly, and a distinctive leucocyte anomaly (Chediak, 1952; Higashi, 1954). Available genetic and fine structural studies suggest that the condition is inherited as an autosomal recessive trait (Sadan et ...

BACKGROUND The change of visual function in Chediak-Higashi syndrome has not been well described. CASES The visual function of a 12-year-old Japanese girl with ocular albinism due to Chediak-Higashi syndrome was followed by periodic ophthalmological examinations. OBSERVATIONS A lack of pigmentation in the iris and ocular fundus, and pigmentary degeneration of the peripheral retina were obse...

Chediak-Higashi syndrome which appears to be a lysosomal disease (Douglas and Fudenberg, 1969; White, 1966) is characterized by partial albinism, photophobia, recurrent infections, hepatosplenomegaly, and a distinctive leucocyte anomaly (Chediak, 1952; Higashi, 1954). Available genetic and fine structural studies suggest that the condition is inherited as an autosomal recessive trait (Sadan et ...

Accepted for publication 8 November 1994 Abstract Aims-To determine whether neutrophil elastase and cathepsin G are expressed, at transcriptional or translational levels, in the bone marrow from a patient with Chediak-Higashi syndrome. Methods-Blood neutrophils were isolated from three patients with Chediak-Higashi disease and bone marrow was collected from one. Cell lysates were analysed for n...

Chemotaxis of mononuclear leukocytes from humans, mink, and cattle was evaluated in vitro using a morphologic Boyden chamber technique and a new 51-Cr-labeled mononuclear radioassay with a double micropore filter system. Significantly decreased mononuclear leukocyte chemotactic response were noted when human, mink, or cattle Chediak-Higashi cells were tested using autologous serum or endotoxin-...

In the Chediak-Higashi syndrome, an anomalous hypopigmentation is associated with large lysosomal granules in the blood leukocytes. Since the inheritance pattern is that of an autosomal recessive trait, we postulated a common mechanism for these two primary features of the disease. Electron microscopy of melanocytes revealed that the pigmentary anomaly is indeed based on giant melanosomes. Sinc...

Impaired vision Photophobia Albinism of the OCA2 type, giving a lighter complexion than unaffected family members [6] Silvery sheen to hair which may be fair in colour Frequent infections (skin, mucous membranes, respiratory) Epilepsy Mental retardation Enlarged liver and spleen Jaundice Ataxia causing incoordination and a typical ataxic gait Tremor Epilepsy Peripheral neuropathy causing motor ...

This article discusses the role of electron microscopy in diagnosis and study morphological changes that cause platelet structural abnormalities a variety congenital diseases. Morphological can be divided into cytoskeleton, alpha dense granules, membrane abnormalities. Our paper describes ultrastructural defects Wiskott–Aldrich syndrome, MYH9-associated syndromes, gray Hermansky–Pudlak Paris–Tr...

Platelet function studies were performed on two patients with the Chediak-Higashi syndrome, one of whom had a history of easy bruising unrelated to thrombocytopenia. Both patients had prolonged bleeding times, abnormal platelet aggregation, and a defect of platelet storage granules, manifested by reduced platelet ADP, an increased ATP/ADP ratio, increased adenine nucleotide specific radioactivi...