The Chediak-Higashi Syndrome: A Possible Lysosomal Disease

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The 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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The Chediak - Higashi Syndrome : A Possible Lysosotnal 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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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

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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ژورنال

عنوان ژورنال: Blood

سال: 1966

ISSN: 0006-4971,1528-0020

DOI: 10.1182/blood.v28.2.143.143