Chediak-Higashi syndrome: Complete engraftment after documented chimerism
نویسندگان
چکیده
منابع مشابه
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 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
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 ...
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: pathognomonic feature.
A 2 -year-old girl presented to us with recurrent infections, hepato splenomegaly, and photophobia. On examination she had blond hair with a metallic sheen. The blood smear showed giant lysosomes in the white blood cells (fi gure) and we diagnosed Chediak-Higashi syndrome, a rare autosomal recessive disease (gene CHS1/LYST at 1q42.1-2). There have been around 200 cases reported, and giant cytop...
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ژورنال
عنوان ژورنال: Biology of Blood and Marrow Transplantation
سال: 2006
ISSN: 1083-8791
DOI: 10.1016/j.bbmt.2005.11.397