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.
Lysosomale Speicherkrankheiten | ||||
Chediak-Higashi-Syndrom | ||||
LYST | ||||
Cystinose | ||||
Infantile Sialinsäurespeicherkrankheit | ||||
Mangel an lysosomaler saurer Lipase | ||||
Morbus Fabry | ||||
Salla Erkrankung | ||||
Wolman-Erkrankung | ||||
1. |
None (1999) Multi-organellar disorders of pigmentation: tied up in traffic. |
2. |
Windhorst DB et al. (1966) Chediak-Higashi syndrome: hereditary gigantism of cytoplasmic organelles. |
3. |
None (1966) The Chediak-Higashi syndrome: a possible lysosomal disease. |
5. |
None (1980) Chediak-Higashi syndrome: abnormal lysosomal enzyme levels in granulocytes of patients and family members. |
6. |
Roder JC et al. (1980) A new immunodeficiency disorder in humans involving NK cells. |
7. |
Virelizier JL et al. (1982) Reversal of natural killer defect in a patient with Chédiak-Higashi syndrome after bone-marrow transplantation. |
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. |
9. |
de Beer HA et al. (1981) Chédiak-Higashi syndrome in a "Black' child. |
10. |
Uyama E et al. (1994) Adult Chédiak-Higashi syndrome presenting as parkinsonism and dementia. |
11. |
Aslan Y et al. (1996) The role of high dose methylprednisolone and splenectomy in the accelerated phase of Chédiak-Higashi syndrome. |
12. |
Perou CM et al. (1997) The bg allele mutation is due to a LINE1 element retrotransposition. |
13. |
Barrat FJ et al. (1999) Defective CTLA-4 cycling pathway in Chediak-Higashi syndrome: a possible mechanism for deregulation of T lymphocyte activation. |
14. |
Kanfer JN et al. (1968) Alteration of sphingolipid metabolism in leukocytes from patients with the Chediak-Higashi syndrome. |
15. |
None (1952) [New leukocyte anomaly of constitutional and familial character]. |
16. |
None (1954) Congenital gigantism of peroxidase granules; the first case ever reported of qualitative abnormity of peroxidase. |
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. |
18. |
EFRATI P et al. (1958) Chediak's anomaly of leukocytes in malignant lymphoma associated with leukemic manifestations: case report with necropsy. |
19. |
PADGETT GA et al. (1964) THE FAMILIAL OCCURRENCE OF THE CHEDIAK-HIGASHI SYNDROME IN MINK AND CATTLE. |
20. |
KRITZLER RA et al. (1964) CHEDIAK-HIGASHI SYNDROME. CYTOLOGIC AND SERUM LIPID OBSERVATIONS IN A CASE AND FAMILY. |
21. |
STEGMAIER OC et al. (1965) CHEDIAK-HIGASHI SYNDROME. |
22. |
None (1955) Chédiak and Higashi's disease: probable identity of a new leucocytal anomaly (Chédiak) and congenital gigantism of peroxidase granules (Higashi). |
23. |
PAGE AR et al. (1962) The Chediak-Higashi syndrome. |
24. |
Tardieu M et al. (2005) Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome. |
25. |
Manoli I et al. (2010) Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1. |
26. |
Shimazaki H et al. (2014) Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation. |
27. |
Oliver JM et al. (1976) Correction of characteristic abnormalities of microtubule function and granule morphology in Chediak-Higashi syndrome with cholinergic agonists. |
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). |
29. |
Barrat FJ et al. (1996) Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43. |
30. |
Karim MA et al. (1997) Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. |
31. |
Barbosa MD et al. (1997) Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. |
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. |
33. |
Dufourcq-Lagelouse R et al. (1999) Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1. |
34. |
Kunieda T et al. (2000) Localization of the locus responsible for Chediak-Higashi syndrome in cattle to bovine chromosome 28. |
35. |
Karim MA et al. (2002) Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. |
36. |
Rausch PG et al. (1978) Immunocytochemical identification of azurophilic and specific granule markers in the giant granules of Chediak-Higashi neutrophils. |
37. |
Boxer LA et al. (1976) Correction of leukocyte function in Chediak-Higashi syndrome by ascorbate. |
38. |
White JG et al. (1979) The Chediak-Higashi syndrome: microtubules in monocytes and lymphocytes. |
39. |
Siccardi AG et al. (1978) A new familial defect in neutrophil bactericidal activity. |
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. |
41. |
Misra VP et al. (1991) Peripheral neuropathy in the Chediak-Higashi syndrome. |
42. |
Inoue R et al. (1991) Chediak-Higashi syndrome: report of a case with an ovarian tumor. |
43. |
Kahraman MM et al. (1990) Chediak-Higashi syndrome in the cat: prenatal diagnosis by evaluation of amniotic fluid cells. |
44. |
Bejaoui M et al. (1989) [The accelerated phase of Chediak-Higashi syndrome]. |
45. |
Ganz T et al. (1988) Microbicidal/cytotoxic proteins of neutrophils are deficient in two disorders: Chediak-Higashi syndrome and "specific" granule deficiency. |
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. |
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. |
48. |
Hargis AM et al. (1985) Animal model. Light and electron microscopy of hepatocytes of cats with Chediak-Higashi syndrome. |
49. |
Blume RS et al. (1972) The Chediak-Higashi syndrome: studies in four patients and a review of the literature. |
50. |
Sheramata W et al. (1971) The Chediak-Higashi-Steinbrinck syndrome. Presentation of three cases with features resembling spinocerebellar degeneration. |
51. |
Tay CH et al. (1970) The Chediak-Higashi syndrome. |