Chediak-Higashi Syndrome

Known as: Anomaly or syndrome, Chediak-Steinbrinck, Beguez Cesar disease, Granulocyte anomaly or syndrome, Chediak-Steinbrinck-Higashi 
A rare autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport. Chediak-Higashi syndrome (CHS) is… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1951-2018
0204019512017

Papers overview

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2013
2013
A 2 -year-old girl presented to us with recurrent infections, hepato splenomegaly, and photophobia. On examination she had blond… (More)
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2004
2004
Chediak-Higashi syndrome (CHS), typically presents with partial albinism and severe hematological abnormalities. About 10% of the… (More)
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Highly Cited
2002
Highly Cited
2002
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by severe immunologic defects, reduced… (More)
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1997
1997
The human autosomal recessive disorder Chediak-Higashi syndrome and its murine homologue beige are associated with the formation… (More)
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Highly Cited
1996
Highly Cited
1996
Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by hypopigmentation, severe immunologic… (More)
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1992
1992
We report the first known case of Chediak-Higashi syndrome in human pregnancy. This rare autosomal recessive disorder is… (More)
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Highly Cited
1988
Highly Cited
1988
Although several genetic defects are known to impair oxidative microbicidal/cytotoxic mechanisms in human PMN, no deficiencies of… (More)
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1976
1976
Platelet function studies were performed on two patients with the Chediak-Higashi syndrome, one of whom had a history of easy… (More)
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Highly Cited
1971
Highly Cited
1971
In vivo and in vitro studies of granulocyte chemotaxis were performed in three patients with the Chediak-Higashi syndrome. Rebuck… (More)
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1966
1966
AR(;E ANOMALOUS GRANULATIONS in circulating leukocytes and cells of other tissues are a characteristic feature of Chediak-Higashi… (More)
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