The Chediak - Higashi Syndrome : A Possible Lysosotnal Disease
نویسنده
چکیده
AR(;E ANOMALOUS GRANULATIONS in circulating leukocytes and cells of other tissues are a characteristic feature of Chediak-Higashi ( C.FI.) svndrcme)4 In addition to unusual intracellular particles, atie1 ts with this disease manifest partial albinism, photophobia, neurologic deficits, hepatosplenornegalv, lvmphadenopathy, increased susceptibility to viral and bacterial infections, and early death due frequently to malignant lymphoma.57 The giant granules in the white blood cells have l)een the focus of several investiga-
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Chediak-Higashi Syndrome: A case report
Introduction: Chediak-Higashi syndrome is a rare autosomal recessive disorder that characterized by severe immunodeficiency. It is also associated with a lymphoproliferative disorder termed the accelerated phase with lymphocytic infiltration of the major organ of the body. Case Report: The patients was a 1-year old boy with intermittent fever, anorexia, malaise. On physical examination h...
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Chediak-Higashi-syndrome cultured skin fibroblasts were used to study the possible involvement of lysosomal enzymes and lysosomal dysfunction in this disorder. Our evidence indicated that Chediak-Higashi fibroblasts displayed a significant decrease in the specific activity of the acidic a-D-mannosidase (pH 4.2) compared with normal controls. Additional studies revealed a small, but significant,...
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متن کاملThe Chediak-Higashi syndrome: a possible lysosomal disease.
AR(;E ANOMALOUS GRANULATIONS in circulating leukocytes and cells of other tissues are a characteristic feature of Chediak-Higashi ( C.FI.) svndrcme)4 In addition to unusual intracellular particles, atie1 ts with this disease manifest partial albinism, photophobia, neurologic deficits, hepatosplenornegalv, lvmphadenopathy, increased susceptibility to viral and bacterial infections, and early dea...
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In vivo and in vitro studies of granulocyte chemotaxis were performed in three patients with the Chediak-Higashi syndrome. Rebuck skin windows showed a decreased accumulation of leukocytes at an inflammatory site. Studies in Boyden chambers documented a cellular defect in granulocyte chemotaxis. The chemotactic response of Chediak-Higashi cells by this technique averaged approximately 40% of no...
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