Chediak-Higashi Syndrome
"Chediak-Higashi Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.
Descriptor ID |
D002609
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MeSH Number(s) |
C15.378.553.774.257 C20.673.774.257
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Concept/Terms |
Chediak-Higashi Syndrome- Chediak-Higashi Syndrome
- Chediak Higashi Syndrome
- Syndrome, Chediak-Higashi
- Oculocutaneous Albinism with Leukocyte Defect
- Chediak-Steinbrinck-Higashi Syndrome
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Below are MeSH descriptors whose meaning is more general than "Chediak-Higashi Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Chediak-Higashi Syndrome".
This graph shows the total number of publications written about "Chediak-Higashi Syndrome" by people in this website by year, and whether "Chediak-Higashi Syndrome" was a major or minor topic of these publications.
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Below are the most recent publications written about "Chediak-Higashi Syndrome" by people in Profiles.
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Karim MA, Suzuki K, Fukai K, Oh J, Nagle DL, Moore KJ, Barbosa E, Falik-Borenstein T, Filipovich A, Ishida Y, Kivrikko S, Klein C, Kreuz F, Levin A, Miyajima H, Regueiro JR, Russo C, Uyama E, Vierimaa O, Spritz RA. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet. 2002 02 15; 108(1):16-22.
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Spritz RA. Genetic defects in Chediak-Higashi syndrome and the beige mouse. J Clin Immunol. 1998 Mar; 18(2):97-105.
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Karim MA, Nagle DL, Kandil HH, B?rger J, Moore KJ, Spritz RA. Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. Hum Mol Genet. 1997 Jul; 6(7):1087-9.
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Nagle DL, Karim MA, Woolf EA, Holmgren L, Bork P, Misumi DJ, McGrail SH, Dussault BJ, Perou CM, Boissy RE, Duyk GM, Spritz RA, Moore KJ. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet. 1996 Nov; 14(3):307-11.
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Fukai K, Oh J, Karim MA, Moore KJ, Kandil HH, Ito H, B?rger J, Spritz RA. Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg). Am J Hum Genet. 1996 Sep; 59(3):620-4.
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Colgan SP, Gasper PW, Thrall MA, Boone TC, Blancquaert AM, Bruyninckx WJ. Neutrophil function in normal and Chediak-Higashi syndrome cats following administration of recombinant canine granulocyte colony-stimulating factor. Exp Hematol. 1992 Nov; 20(10):1229-34.
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Colgan SP, Blancquaert AM, Thrall MA, Bruyninckx WJ. Defective in vitro motility of polymorphonuclear leukocytes of homozygote and heterozygote Chediak-Higashi cats. Vet Immunol Immunopathol. 1992 Mar; 31(3-4):205-27.
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Colgan SP, Hull-Thrall MA, Gasper PW, Gould DH, Rose BJ, Fulton R, Blanquaert AM, Bruyninckx WJ. Restoration of neutrophil and platelet function in feline Chediak-Higashi syndrome by bone marrow transplantation. Bone Marrow Transplant. 1991 May; 7(5):365-74.
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Colgan SP, Hull Thrall MA, Gasper PW. Platelet aggregation and ATP secretion in whole blood of normal cats and cats homozygous and heterozygous for Chediak-Higashi syndrome. Blood Cells. 1989; 15(3):585-95; discussion 596-600.
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Palestine AG, Meyers SM, Fauci AS, Gallin JI. Ocular findings in patients with neutrophil dysfunction. Am J Ophthalmol. 1983 May; 95(5):598-604.
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