Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Chediak-Higashi-Syndrom

Das Chediak-Higashi-Syndrom ist eine autosomal rezessive lysosomale Speicherkrankheit, die durch Mutationen im LYST-Gen hervorgerufen wird. Das Syndrom ist charakterisiert durch Augen- (Strabismus, Photophobie, Hypoplasie der Macula), Haut- (Hypopigmentation), neurologische (geistige Retardierung, Hirnatrophie), hämatologische (Panzytopenie) und schwere immunologische Störungen.

Gliederung

Lysosomale Speicherkrankheiten
Chediak-Higashi-Syndrom
LYST
Cystinose
Infantile Sialinsäurespeicherkrankheit
Mangel an lysosomaler saurer Lipase
Morbus Fabry
Salla Erkrankung
Wolman-Erkrankung

Referenzen:

1.

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.

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2.

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).

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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.

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21.

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.

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22.

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

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23.

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

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24.

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

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25.

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

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26.

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

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27.

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

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28.

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

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29.

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.

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30.

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

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31.

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

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32.

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

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33.

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.

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34.

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

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35.

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

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36.

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

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37.

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

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38.

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

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39.

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

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40.

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

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41.

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

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42.

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.

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43.

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

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44.

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

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45.

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

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46.

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

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47.

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

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48.

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

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49.

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

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50.

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

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51.

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

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Update: 17. Oktober 2019