Chediak-Higashi syndrome


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Related to Chediak-Higashi syndrome: Complement Deficiencies

Chédiak-Higashi syndrome

 
a lethal, progressive, autosomal recessive, systemic disorder associated with oculocutaneous albinism, massive leukocyte inclusions (giant lysosomes), histiocytic infiltration of multiple body organs, development of pancytopenia, hepatosplenomegaly, recurrent or persistent bacterial infections, and a possible predisposition to development of malignant lymphoma.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

Ché·di·ak-Hi·ga·shi syndrome

(chē'dē-ak hē-gah'shē), [MIM*214500 and MIM*214450]
a genetic disorder associated with abnormalities of granulation and nuclear structure of all types of leukocytes and with the presence of peroxidase-positive granules, cytoplasmic inclusions, and Dohle bodies; characterized by hepatosplenomegaly, lymphadenopathy, anemia, neutropenia, partial albinism, nystagmus, photophobia, and susceptibilities to infection and lymphoma; death usually occurs in young animals or during childhood; occurs in mink, cattle, mice, killer whales, and humans; autosomal recessive inheritance, caused by mutation in the Chediak-Higashi gene (CHS) on chromosome 1q.
Farlex Partner Medical Dictionary © Farlex 2012

Chédiak-Higashi syndrome

(shād′yäk-hĭ-gä′shē)
n.
A rare autosomal recessive condition caused by dysfunction of cellular lysosomes and characterized by susceptibility to infection, partial albinism, hepatosplenomegaly, pancytopenia, and often lymphoma.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

Chediak-Higashi syndrome

Chediak-Higashi-Steinbrink syndrome, hereditary leukomelanopathy Molecular medicine A rare AR condition characterized by giant lysosomes and ↑ susceptibility to infections Clinical Partial albinism, lymphadenopathy, hepatosplenomegaly, debilitating neuropathy, photophobia, purulent infections; without BMT most Pts die by age 3 Lab Giant granules in WBCs and platelets, ↓ chemotaxis, bactericidal activity Management BMT, steroids Prognosis Death by age 10
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

Ché·d·i·ak-Hi·ga·shi syn·drome

(chā'dē-ahk-hē-gah'shē sin'drōm)
A genetic disorder associated with abnormalities of granulation and nuclear structure of all types of leukocytes and with the presence of peroxidase-positive granules, cytoplasmic inclusions, and Dohle bodies; characterized by hepatosplenomegaly, lymphadenopathy, anemia, neutropenia, partial albinism, nystagmus, photophobia, and susceptibilities to infection and lymphoma; death usually occurs in childhood; occurs in mink, cattle, mice, killer whales, and humans; autosomal recessive inheritance, caused by mutation in the Chediak-Higashi gene (CHS) on chromosome 1q.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
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References in periodicals archive ?
Efficacy of ascorbic acid in Chediak-Higashi syndrome: Studies in humans and mice.
Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet 2002; 108(1):16-22.
Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype.
Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome. Blood 2011; 118: 4620-4629, doi: 10.1182/blood-2011-05356113.
Atypical Chediak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.
Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease the Chediak-Higashi syndrome. J Cell Biol 1998;141:1121-34.
Apparent genotype- phenotype correlation in childhood adolescent and adult Chediak-Higashi syndrome. Am J Med Genet 2002; 108:16-22.
Lehrer, "Microbicidal/cytotoxic proteins of neutrophils are deficient in two disorders: Chediak-Higashi syndrome and "specific" granule deficiency," Journal of Clinical Investigation, vol.
Borregaard, "Giant granules of neutrophils in Chediak-Higashi syndrome are derived from azurophil granules but not from specific and gelatinase granules," Journal of Leukocyte Biology, vol.
Chediak-Higashi Syndrome. Indian Pediatrics 1994;34:1115-1119.
The Chediak-Higashi syndrome: studies in four patients and a review of the literature.
Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1 q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).