Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Chediak-Higashi syndrome

Chediak-Higashi syndrome is an autosomal recessive lysosomal storage disease caused by mutations of the LYST gene. The syndrom includes ocular (strabism, photophobia, macula hypoplasia), cutaneous (hypopigmentation), neurological (mental retardation, atrophy), hematological (pancytopenia), and severe immunological abnormalities.

Systematic

Lysosomal storage disease
Chediak-Higashi syndrome
LYST
Cystinosis
Fabry disease
Infantile sialic acid storage disorder
Lysosomal acid lipase deficiency
Salla disease
Wolman disease

References:

1.

None (1999) Multi-organellar disorders of pigmentation: tied up in traffic.

external link
2.

Windhorst DB et al. (1966) Chediak-Higashi syndrome: hereditary gigantism of cytoplasmic organelles.

external link
3.

None (1966) The Chediak-Higashi syndrome: a possible lysosomal disease.

external link
4.

White JG et al. (1980) The Chédiak-Higashi syndrome; the nature of the giant neutrophil granules and their interactions with cytoplasm and foreign particulates. I. Progressive enlargement of the massive inclusions in mature neutrophils. II. Manifestations of cytoplasmic injury and sequestration. III. Interactions between giant organelles and foreign particulates.

external link
5.

None (1980) Chediak-Higashi syndrome: abnormal lysosomal enzyme levels in granulocytes of patients and family members.

external link
6.

Roder JC et al. (1980) A new immunodeficiency disorder in humans involving NK cells.

external link
7.

Virelizier JL et al. (1982) Reversal of natural killer defect in a patient with Chédiak-Higashi syndrome after bone-marrow transplantation.

external link
8.

Abo T et al. (1982) Natural killer (HNK-1+) cells in Chediak-Higashi patients are present in normal numbers but are abnormal in function and morphology.

external link
9.

de Beer HA et al. (1981) Chédiak-Higashi syndrome in a "Black' child.

external link
10.

Uyama E et al. (1994) Adult Chédiak-Higashi syndrome presenting as parkinsonism and dementia.

external link
11.

Aslan Y et al. (1996) The role of high dose methylprednisolone and splenectomy in the accelerated phase of Chédiak-Higashi syndrome.

external link
12.

Perou CM et al. (1997) The bg allele mutation is due to a LINE1 element retrotransposition.

external link
13.

Barrat FJ et al. (1999) Defective CTLA-4 cycling pathway in Chediak-Higashi syndrome: a possible mechanism for deregulation of T lymphocyte activation.

external link
14.

Kanfer JN et al. (1968) Alteration of sphingolipid metabolism in leukocytes from patients with the Chediak-Higashi syndrome.

external link
15.

None (1952) [New leukocyte anomaly of constitutional and familial character].

external link
16.

None (1954) Congenital gigantism of peroxidase granules; the first case ever reported of qualitative abnormity of peroxidase.

external link
17.

DONOHUE WL et al. (1957) Chédiak-Higashi syndrome; a lethal familial disease with anomalous inclusions in the leukocytes and constitutional stigmata: report of a case with necropsy.

external link
18.

EFRATI P et al. (1958) Chediak's anomaly of leukocytes in malignant lymphoma associated with leukemic manifestations: case report with necropsy.

external link
19.

PADGETT GA et al. (1964) THE FAMILIAL OCCURRENCE OF THE CHEDIAK-HIGASHI SYNDROME IN MINK AND CATTLE.

external link
20.

KRITZLER RA et al. (1964) CHEDIAK-HIGASHI SYNDROME. CYTOLOGIC AND SERUM LIPID OBSERVATIONS IN A CASE AND FAMILY.

external link
21.

STEGMAIER OC et al. (1965) CHEDIAK-HIGASHI SYNDROME.

external link
22.

None (1955) Chédiak and Higashi's disease: probable identity of a new leucocytal anomaly (Chédiak) and congenital gigantism of peroxidase granules (Higashi).

external link
23.

PAGE AR et al. (1962) The Chediak-Higashi syndrome.

external link
24.

Tardieu M et al. (2005) Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome.

external link
25.

Manoli I et al. (2010) Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.

external link
26.

Shimazaki H et al. (2014) Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.

external link
27.

Oliver JM et al. (1976) Correction of characteristic abnormalities of microtubule function and granule morphology in Chediak-Higashi syndrome with cholinergic agonists.

external link
28.

Fukai K et al. (1996) 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).

external link
29.

Barrat FJ et al. (1996) Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.

external link
30.

Karim MA et al. (1997) Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein.

external link
31.

Barbosa MD et al. (1997) Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.

external link
32.

Faigle W et al. (1998) Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome.

external link
33.

Dufourcq-Lagelouse R et al. (1999) Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.

external link
34.

Kunieda T et al. (2000) Localization of the locus responsible for Chediak-Higashi syndrome in cattle to bovine chromosome 28.

external link
35.

Karim MA et al. (2002) Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.

external link
36.

Rausch PG et al. (1978) Immunocytochemical identification of azurophilic and specific granule markers in the giant granules of Chediak-Higashi neutrophils.

external link
37.

Boxer LA et al. (1976) Correction of leukocyte function in Chediak-Higashi syndrome by ascorbate.

external link
38.

White JG et al. (1979) The Chediak-Higashi syndrome: microtubules in monocytes and lymphocytes.

external link
39.

Siccardi AG et al. (1978) A new familial defect in neutrophil bactericidal activity.

external link
40.

Jenkins NA et al. (1991) Nidogen/entactin (Nid) maps to the proximal end of mouse chromosome 13 linked to beige (bg) and identifies a new region of homology between mouse and human chromosomes.

external link
41.

Misra VP et al. (1991) Peripheral neuropathy in the Chediak-Higashi syndrome.

external link
42.

Inoue R et al. (1991) Chediak-Higashi syndrome: report of a case with an ovarian tumor.

external link
43.

Kahraman MM et al. (1990) Chediak-Higashi syndrome in the cat: prenatal diagnosis by evaluation of amniotic fluid cells.

external link
44.

Bejaoui M et al. (1989) [The accelerated phase of Chediak-Higashi syndrome].

external link
45.

Ganz T et al. (1988) Microbicidal/cytotoxic proteins of neutrophils are deficient in two disorders: Chediak-Higashi syndrome and "specific" granule deficiency.

external link
46.

Holcombe RF et al. (1987) Relationship of the genes for Chediak-Higashi syndrome (beige) and the T-cell receptor gamma chain in mouse and man.

external link
47.

Penner JD et al. (1987) A comparative study of the lesions in cultured fibroblasts of humans and four species of animals with Chediak-Higashi syndrome.

external link
48.

Hargis AM et al. (1985) Animal model. Light and electron microscopy of hepatocytes of cats with Chediak-Higashi syndrome.

external link
49.

Blume RS et al. (1972) The Chediak-Higashi syndrome: studies in four patients and a review of the literature.

external link
50.

Sheramata W et al. (1971) The Chediak-Higashi-Steinbrinck syndrome. Presentation of three cases with features resembling spinocerebellar degeneration.

external link
51.

Tay CH et al. (1970) The Chediak-Higashi syndrome.

external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits