The Chediak-Higashi Syndrome: Continuous Suspension Cultures Derived From Peripheral Blood

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Chediak-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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Chediak-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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Chediak-Higashi Syndrome

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 ...

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Chediak-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 کامل

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ژورنال

عنوان ژورنال: Blood

سال: 1969

ISSN: 0006-4971,1528-0020

DOI: 10.1182/blood.v33.6.821.821