A platelet abnormality in the Chediak-Higashi syndrome of man
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منابع مشابه
A platelet abnormality in the Chediak-Higashi syndrome of man.
Platelets from two probands homozygous for the Chediak-Higashi syndrome have approximately 10% of the normal number of serotonin-containing dense bodies as visualized electron microscopically in air-dried whole mounts. Since transport of serotonin across the platelet plasma membrane proceeds at a normal rate, and the few dense bodies present appear to store normal amounts of serotonin, the abse...
متن کاملPlatelet function in the Chediak-Higashi syndrome.
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...
متن کاملChediak-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...
متن کاملChediak-Higashi Syndrome
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 ...
متن کاملChediak-Higashi Syndrome
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 ...
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ژورنال
عنوان ژورنال: Blood
سال: 1976
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v48.4.517.517