The Chediak-Higashi Syndrome and the Homologous Trait in Animals
نویسندگان
چکیده
منابع مشابه
Neutrophilic function in animals with the Chediak-Higashi syndrome.
T HE CHEDIAK-HIGASHI SYNDROME (C-HS) has been reported in three species: man,’ mink,23 and cattle.4 This syndrome has recently been reviewed and the general characteristics of the syndrome will not he considered here.5 In all three species there is an increased susceptibility to chronic infectious diseases. Children with this condition have had repeated cutaneous infections, unexplained pyrexic...
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 ...
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 کاملThe cytoskeleton in Chediak-Higashi syndrome fibroblasts.
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...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 1973
ISSN: 0022-202X
DOI: 10.1111/1523-1747.ep12703609