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Chediak-Higashi Sendromu

Yıl 2007, Cilt: 5 Sayı: 3, 99 - 104, 01.12.2007

Öz

Chediak-Higashi sendromu CHS otozomal resesif geçen, birçok sistemi etkileyen nadir görülen bir hastalıktır. CHS1 genindemutasyonlar saptanmıştır. Klinik olarak ciltte ve saçta hipopigmentasyon, uzamış kanama zamanı, immun yetmezlik, tekrarlayan enfeksiyonlar, nörolojik anormalliklerle karakterizedir. Periferik lökositlerde ve diğer hücrelerde dev granüller görülür.Kök hücre transplantasyonu bazılarında başarılı olmuştur. Hastalar genellikle piyojenik enfeksiyon, kanama, ve hızlanmışfazın komplikasyonlarına bağlı kaybedilir

Kaynakça

  • 1. Beguez-Ceaar AB. Neutropenia cronica maligna familiar con granulaciones atipicas de los leucocitos. Bol Soc Cubana Pediatr 1943; 15:900-22.
  • 2. Sato A. Chediak and Highashi’s disease: probable identity of “ a new leukocytal anomaly (Chediak) “and” congenital gigantism of peroxidase granules (Higashi).” Tohoku J Exp Med 1955; 61:201-10.
  • 3. Moran TJ, Estevez JM. Chediak-Higashi disease. Morphologic studies of a patient and her family. Arch Pathol 1969; 88:329-39.
  • 4. Ramirez- Duque P, Arends T, Merino F. Chediak-Higashi syndrome: description of a cluster in a Venezuelan- Andean isolated region. J Med 1982; 13:431-51.
  • 5. Barbosa MDFS, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD , Pastural E, Dufourg- Lagelouse R, Fischer A, Holcombe RF, Wallace MR, Brandt SJ, De Saint Basile G, Kingsmore SF. Identification of mutations in two major mRNA isoform of Chediak-Higashi syndrome gene in human and Mouse. Hum Mol Genet 1997; 6:1091-8.
  • 6. Nagle DL, Karim MA, Wolf EA, Holmgren L, Bork P, Misumi DJ, McGrail SH, Dussault BJ Jr, 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; 14:307-11.
  • 7. Perou CM, Moore KJ, Nagle DL, Misumi DJ, Wolf EA, McGrail SH, Holmgren L, Brody TH, Dussault BJ Jr, Monroe CA, Duyk GM, Pryor RJ, Li L, Justice MJ, Kaplan J. Identification of the murine beige gene by YAC complementation and positional cloning. Nat Genet 1996; 13:303-7.
  • 8. Spritz RA. Genetic defects in Chediak-Higashi syndrome and the beige mouse. J Clin Immunol 1998; 18:96-104.
  • 9. Pierini DO, Abulafia J. Manifestaciones cutaneas del sindrome de Chediak-Higashi. Arch Argent Derm 1958; 8:23-31.
  • 10. Stegmaier OC, Schneider LA. Chediak-Higashi syndrome. Arch Dermatol 1965; 1:1-9.
  • 11. Boxer GJ, Holmsen H, Robkin L, Bang NU, Boxer LA, Baehner RL. Abnormal platelet function in Chediak-Higashi syndrome. Br J Haematol 1977; 35:521-33.
  • 12. Buchanan GR, Handin RI. Platelet function in the ChediakHigashi syndrome. Blood 1997; 47:941-8.
  • 13. Lockman LA, Kennedy WR, White J G. The Chediak-Higashi syndrome: electrophysiological and electron microscopic observations on the peripheral neuropathy. J Pediatr 1967; 70:942-51.
  • 14. Misra VP, King RHM, Harding AE, Muddle JR, Thomas PK. Peripheral neuropathy in the Chediak-Higashi syndrome. Acta Neuropathol 1991; 81:354-8.
  • 15. Uyama E, Hirano T, Ito K, Nakashima H, Sugimoto M, Naito M, Uchino M, Ando M. Adult Chediak-Higashi syndrome presenting as parkinsonism and dementia. Acta Neurol Scand 1994; 89:175-83.
  • 16. Page AR, Berendes H, Warner J, Good RA. The Chediak-Higashi syndrome. Blood 1962; 20:330-43.
  • 17. Dent PB, Fish LA, White JG, Good RA. Chediak-Higashi syndrome: observations on the nature of the associated malignancy. Lab Invest 1966; 15: 1634-42.
  • 18. Argyle JC, Kjeldsberg CR, Marty J, Shigeoka AO, Hill HR. Tcell lymphoma and the Chediak-Higashi syndrome. Blood 1982; 60:672-6.
  • 19. Rubin CM, Burke BA , McKenna RW, McClain KL, White JG, Nesbit ME Jr, Filipovich AH. The accelerated phase of Chediak-Higashi syndrome: an expression of the virus-associated hemophagocytic syndrome. Cancer 1985; 56:524-30.
  • 20. Spritz RA. The Familial histiocytoses. Pediatr Pathol 1985; 3:43-57.
  • 21. Windhorst DB, Zelickson AS, Good RA. Chediak-Higashi syndrome: hereditary gigantism of cytoplasmic organelles. Science 1966; 151:81-3.
  • 22. Zelickson AS, Windhorst DB, White JG, Good RA. The Chediak-Higashi syndrome: formation of giant melanosomes and the basis of hypopigmentation. J Invest Dermatol 1967; 49: 575-81.
  • 23. Orlow SJ. Melanosomes are specialized members of the lysosomal lineage of organelles. J Invest Dermatol 1995; 105:3-7.
  • 24. Ramirez- Duque P, Arends T, Merino F. Chediak-Higashi syndrome : description of a cluster in a Venezuelan- Andean isolated region. J Med 1982; 13:431-51
  • 25. Leal I, Merino F, Soto H, Goihman Yahr M, De Salvo L, Amesty C, Brenata A. Chediak-Higashi syndrome in Venezuelan black child. J Am Acad Dermatol 1985; 13:337-42.
  • 26. University of New Mexico Medical Laboratory (http://hsc.unm.edu/som/pathology/medlab/nmexmed.shtml)
  • 27. Stanford school of medicine/ Hematopathology (http://hematopathology.stanford.edu/people.html)
  • 28. Atlas De Hematologia (http://www.iqb.es/hematologia/atlas/blancos/chediak.htm)
  • 29. Donohue WL, Bain HW. Chediak-Higashi syndrome:a lethal familial disease with anomalous inclusions in the leukocytes and constitutional stigmata: report of a case with necropsy. Pediatrics 1957; 20:416-30.
  • 30. White JG. The Chediak-Higashi syndrome: a possible lysosomal disease. Blood 1966; 28:143-156.
  • 31. Blume RS, Wolff SM. The Chediak-Higashi syndrome: studies in four patients and a review of the literature. Medicine 1972; 51:247-80.
  • 32. Kritzler RA, Terner JY, Lindenbaum J, Magidson J, Williams R, Preisig R, Phillips GB. Chediak-Higashi syndrome: Cytologic and serum lipid observations in a case and family. Am J Med 1964; 36:583-94.
  • 33. Windhorst DB, Zelickson AS, Good RA. A human pigmentary dilution based on a heritable subcellular structural defect the Chediak-Higashi syndrome. J Invest Dermatol 1968; 50:9-18.
  • 34. Clark RA, Kimball HR. Defective granulocyte chemotaxis in the Chediak-Higashi syndrome. J Clin Invest 1971; 50:2645-52.
  • 35. Wolff SM, Dale DC, Clark RA, Root RK, Kimball HR. The Chediak-Higashi syndrome: studies of host defenses. Ann Intern Med 1972; 76:293-306.
  • 36. Root RK, Rosenthal AS, Balestra DJ. Abnormal bactericidal, metabolic and lysosomal functions of Chediak-Higashi syndrome leukocytes. J Clin Invest 1972; 51:649-65.
  • 37. Katz P, Zaytoun AM, Fauci AS. Deficiency of active natural killer cells in the Chediak-Higashi syndrome: localization of the defect using a single cell cytotoxicity assay. J Clin Invest 1982; 69:1231-8.
  • 38. Zhao H, Boissy YL, Abdel-Malek Z, King RA, Nordlund JJ, Boissy RE. On the analysis of the pathophysiology of ChediakHigashi syndrome. 1994; 71:25-34.
  • 39. Deprez P, Laurent R, Griscelli C, Buriot D, Agache P. La maladie de Chediak-Higashi. A propos d’une nouvelle observation. Ann Dermatol Venerreol 1978; 105:841-9.
  • 40. Valenzuela R, Morningstar WA. The ocular pigmentary disturbance of human study and review of the literature. Arn J Clin Path 1981; 75:591-6.
  • 41. Ballard R, Tien RD, Nohria V, Juel V. The Chediak-Higashi syndrome: CT and MR findings. Pediatr Radiol 1994; 24:266-7.
  • 42. Windhorst DB, Padgett B. The Chediak-Higashi syndrome and the homologous trait in animals. J Invest Dermatol 1973; 60:529-37.
  • 43. Perou CM, Kaplan J. Complementation analysis of ChediakHigashi syndrome: the same gene may be responsible for the defect in all Patients and species. Somat Cell Mol Genet 1993; 19:459-68.
  • 44. Holcombe RF, Stephenson DA, Zweidler A, Stewart RM, Chapman VM, Seidman JG. Linkage of loci associated with two pigment mutations on mouse chromosome 13. Genet Res 1991; 58:41-50.
  • 45. Jenkins NA, Justice MJ, Gilbert DJ, Chu ML, Copeland NG. Nidogen/entactin (Nid) maps to the proximal end of mouse choromosome 13 linked to beige (bg) and identifies a new region of homology between mouse and human chromosomes. Genomics 1991; 9:401-3.
  • 46. Barrat FJ, Auloge L, Pastural E, Lagelouse RD, Vimler E, Cant AJ, Weissenbach J, Le Paslier D, Fischer A, De Saint Basile G. Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43. Am J Hum Genet 1996; 59:625-33.
  • 47. Fukai K, Oh J, Karim MA, Moore KJ, Kandil HH, Oto H, Burger 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 . Am J Hum Genet 1996; 59:620-4.
  • 48. Klionsky DJ, Emr SD. A new class of lysosomal/vacuolar protein sorting signals. J Biol chem 1990; 265:5349-52.
  • 49. Stack JH, Herman PK, Schu PV, Emr SD. A membrane-associated complex containing the Vps15 protein kinase and the VPS34 PI 3-kinase is essential for protein sorting to the yeast lysoome-like vacuole. EMBO J 1993; 12:2195-204.
  • 50. Atlas De Dermatologia (http://www.iqb.es/dermatologia/atlas/griscelli.htm)
  • 51. Diukman R, Tanigawara S, Cowan MJ, Golbus MS. Prenatal diagnosis of Chediak-Higashi syndrome. Prenat Diagn 1992; 12:877-85.
  • 52. Durandy A, Breton-Gorius J, Guy-Grand D, Dumez C, Griscelli C. Prenatal diagnosis of syndromes associating albinism and immune deficiencies (Chediak-Higashi syndrome and variant). Prenat Diagn 1993; 13:13-20.
  • 53. Bejaoui M, Veber F, Girault D, Gaud C, Blanche S, Griscelli C, Fischer A. Phase acceleree de la maladie de Chediak-Higashi. Arch Fr Pediatr 1989; 46:733-6.
  • 54. Kazmierowski JA, Elin RJ, Reynolds HY, Durbin WA, Wolff SM. Chediak-Higashi syndrome: reversal of increased susceptibility to infection by bone marow transplantation. Blood 1976; 47:555-9
  • 55. Virelizier JL, Lagrue A, Durandy A, Arenzana F, Oury C, Griscelli C, Reinert P. Reversal of natural killer defect in a patient with Chediak-Higashi syndrome after bone marrow transplantation. Lancet 1982; 306:1055-6.
  • 56. Haddad E, Le Deist F, Blanche S , Benkerrou M, Rohrlich P, Vimler E, Griscelli C, Fischer A. Treatment of Chediak-Higashi syndrome by allogenic bone marrow transplantation. Blood 1955; 85:3328-33.
  • 57. Mottonen M, Lanning M, Saarinen UM. Allogenic bone marrow transplantation in Chediak-Higashi syndrome. Pediatr Hematol Oncol 1995; 12:55-9
  • 58. Klein C, Phillipe N, LeDeist F, Fraitag S, Prost C, Durandy A, Fisher A, Griscelli C. Partial albinism with immunodeficiency (Griscelli syndrome). J Pediatr 1994; 125:886-95.
  • 59. Mercer JA, Seperack PK, Strobel MC, Copeland NG, Jenkins NA. Novel myosin heavy chain encoded by murine dilute coat colour Locus. Nature 1991; 349:709-13.
  • 60. Wu X, Bowers B, Wei Q, Kocher B, Hammer JA III. Myosin V associates with melanosomes in mouse melanocytes: evidence that myosin V is an organelle motor. J Cell Sci 1967; 110:847-59.
  • 61. Harfi HA, Brismar J, Hainau B, Sabah R. Partial albinism, immunodeficiency, and progressive white matter disease: a new primary immunodeficiency. Allergy Proc 1992; 13:321-28.
  • 62. Spritz RA. Molecular genetics of the Hermansky-Pudlak and Chediak-Higashi syndromes. Platelets 1998; 9:21-30.

Chediak-Higashi Syndrome

Yıl 2007, Cilt: 5 Sayı: 3, 99 - 104, 01.12.2007

Öz

Chediak-Higashi syndrome CHS is a rare autosomal recessive disorder that affects multiple systems of the body.Mutations have been found in the CHS1 gene. This disorder characterized by hypopigmentation of the skin and hair; prolonged bleeding time; immunodeficiency; recurrent infections; neurologic abnormalites. Abnormally large granules areseen in peripheral leukocytes and many other cell types. Stem cell transplantation has been found successfull in some patients. Patients die usually from pyogenic infection, hemorrhage or complications of the accelerated phase

Kaynakça

  • 1. Beguez-Ceaar AB. Neutropenia cronica maligna familiar con granulaciones atipicas de los leucocitos. Bol Soc Cubana Pediatr 1943; 15:900-22.
  • 2. Sato A. Chediak and Highashi’s disease: probable identity of “ a new leukocytal anomaly (Chediak) “and” congenital gigantism of peroxidase granules (Higashi).” Tohoku J Exp Med 1955; 61:201-10.
  • 3. Moran TJ, Estevez JM. Chediak-Higashi disease. Morphologic studies of a patient and her family. Arch Pathol 1969; 88:329-39.
  • 4. Ramirez- Duque P, Arends T, Merino F. Chediak-Higashi syndrome: description of a cluster in a Venezuelan- Andean isolated region. J Med 1982; 13:431-51.
  • 5. Barbosa MDFS, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD , Pastural E, Dufourg- Lagelouse R, Fischer A, Holcombe RF, Wallace MR, Brandt SJ, De Saint Basile G, Kingsmore SF. Identification of mutations in two major mRNA isoform of Chediak-Higashi syndrome gene in human and Mouse. Hum Mol Genet 1997; 6:1091-8.
  • 6. Nagle DL, Karim MA, Wolf EA, Holmgren L, Bork P, Misumi DJ, McGrail SH, Dussault BJ Jr, 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; 14:307-11.
  • 7. Perou CM, Moore KJ, Nagle DL, Misumi DJ, Wolf EA, McGrail SH, Holmgren L, Brody TH, Dussault BJ Jr, Monroe CA, Duyk GM, Pryor RJ, Li L, Justice MJ, Kaplan J. Identification of the murine beige gene by YAC complementation and positional cloning. Nat Genet 1996; 13:303-7.
  • 8. Spritz RA. Genetic defects in Chediak-Higashi syndrome and the beige mouse. J Clin Immunol 1998; 18:96-104.
  • 9. Pierini DO, Abulafia J. Manifestaciones cutaneas del sindrome de Chediak-Higashi. Arch Argent Derm 1958; 8:23-31.
  • 10. Stegmaier OC, Schneider LA. Chediak-Higashi syndrome. Arch Dermatol 1965; 1:1-9.
  • 11. Boxer GJ, Holmsen H, Robkin L, Bang NU, Boxer LA, Baehner RL. Abnormal platelet function in Chediak-Higashi syndrome. Br J Haematol 1977; 35:521-33.
  • 12. Buchanan GR, Handin RI. Platelet function in the ChediakHigashi syndrome. Blood 1997; 47:941-8.
  • 13. Lockman LA, Kennedy WR, White J G. The Chediak-Higashi syndrome: electrophysiological and electron microscopic observations on the peripheral neuropathy. J Pediatr 1967; 70:942-51.
  • 14. Misra VP, King RHM, Harding AE, Muddle JR, Thomas PK. Peripheral neuropathy in the Chediak-Higashi syndrome. Acta Neuropathol 1991; 81:354-8.
  • 15. Uyama E, Hirano T, Ito K, Nakashima H, Sugimoto M, Naito M, Uchino M, Ando M. Adult Chediak-Higashi syndrome presenting as parkinsonism and dementia. Acta Neurol Scand 1994; 89:175-83.
  • 16. Page AR, Berendes H, Warner J, Good RA. The Chediak-Higashi syndrome. Blood 1962; 20:330-43.
  • 17. Dent PB, Fish LA, White JG, Good RA. Chediak-Higashi syndrome: observations on the nature of the associated malignancy. Lab Invest 1966; 15: 1634-42.
  • 18. Argyle JC, Kjeldsberg CR, Marty J, Shigeoka AO, Hill HR. Tcell lymphoma and the Chediak-Higashi syndrome. Blood 1982; 60:672-6.
  • 19. Rubin CM, Burke BA , McKenna RW, McClain KL, White JG, Nesbit ME Jr, Filipovich AH. The accelerated phase of Chediak-Higashi syndrome: an expression of the virus-associated hemophagocytic syndrome. Cancer 1985; 56:524-30.
  • 20. Spritz RA. The Familial histiocytoses. Pediatr Pathol 1985; 3:43-57.
  • 21. Windhorst DB, Zelickson AS, Good RA. Chediak-Higashi syndrome: hereditary gigantism of cytoplasmic organelles. Science 1966; 151:81-3.
  • 22. Zelickson AS, Windhorst DB, White JG, Good RA. The Chediak-Higashi syndrome: formation of giant melanosomes and the basis of hypopigmentation. J Invest Dermatol 1967; 49: 575-81.
  • 23. Orlow SJ. Melanosomes are specialized members of the lysosomal lineage of organelles. J Invest Dermatol 1995; 105:3-7.
  • 24. Ramirez- Duque P, Arends T, Merino F. Chediak-Higashi syndrome : description of a cluster in a Venezuelan- Andean isolated region. J Med 1982; 13:431-51
  • 25. Leal I, Merino F, Soto H, Goihman Yahr M, De Salvo L, Amesty C, Brenata A. Chediak-Higashi syndrome in Venezuelan black child. J Am Acad Dermatol 1985; 13:337-42.
  • 26. University of New Mexico Medical Laboratory (http://hsc.unm.edu/som/pathology/medlab/nmexmed.shtml)
  • 27. Stanford school of medicine/ Hematopathology (http://hematopathology.stanford.edu/people.html)
  • 28. Atlas De Hematologia (http://www.iqb.es/hematologia/atlas/blancos/chediak.htm)
  • 29. Donohue WL, Bain HW. Chediak-Higashi syndrome:a lethal familial disease with anomalous inclusions in the leukocytes and constitutional stigmata: report of a case with necropsy. Pediatrics 1957; 20:416-30.
  • 30. White JG. The Chediak-Higashi syndrome: a possible lysosomal disease. Blood 1966; 28:143-156.
  • 31. Blume RS, Wolff SM. The Chediak-Higashi syndrome: studies in four patients and a review of the literature. Medicine 1972; 51:247-80.
  • 32. Kritzler RA, Terner JY, Lindenbaum J, Magidson J, Williams R, Preisig R, Phillips GB. Chediak-Higashi syndrome: Cytologic and serum lipid observations in a case and family. Am J Med 1964; 36:583-94.
  • 33. Windhorst DB, Zelickson AS, Good RA. A human pigmentary dilution based on a heritable subcellular structural defect the Chediak-Higashi syndrome. J Invest Dermatol 1968; 50:9-18.
  • 34. Clark RA, Kimball HR. Defective granulocyte chemotaxis in the Chediak-Higashi syndrome. J Clin Invest 1971; 50:2645-52.
  • 35. Wolff SM, Dale DC, Clark RA, Root RK, Kimball HR. The Chediak-Higashi syndrome: studies of host defenses. Ann Intern Med 1972; 76:293-306.
  • 36. Root RK, Rosenthal AS, Balestra DJ. Abnormal bactericidal, metabolic and lysosomal functions of Chediak-Higashi syndrome leukocytes. J Clin Invest 1972; 51:649-65.
  • 37. Katz P, Zaytoun AM, Fauci AS. Deficiency of active natural killer cells in the Chediak-Higashi syndrome: localization of the defect using a single cell cytotoxicity assay. J Clin Invest 1982; 69:1231-8.
  • 38. Zhao H, Boissy YL, Abdel-Malek Z, King RA, Nordlund JJ, Boissy RE. On the analysis of the pathophysiology of ChediakHigashi syndrome. 1994; 71:25-34.
  • 39. Deprez P, Laurent R, Griscelli C, Buriot D, Agache P. La maladie de Chediak-Higashi. A propos d’une nouvelle observation. Ann Dermatol Venerreol 1978; 105:841-9.
  • 40. Valenzuela R, Morningstar WA. The ocular pigmentary disturbance of human study and review of the literature. Arn J Clin Path 1981; 75:591-6.
  • 41. Ballard R, Tien RD, Nohria V, Juel V. The Chediak-Higashi syndrome: CT and MR findings. Pediatr Radiol 1994; 24:266-7.
  • 42. Windhorst DB, Padgett B. The Chediak-Higashi syndrome and the homologous trait in animals. J Invest Dermatol 1973; 60:529-37.
  • 43. Perou CM, Kaplan J. Complementation analysis of ChediakHigashi syndrome: the same gene may be responsible for the defect in all Patients and species. Somat Cell Mol Genet 1993; 19:459-68.
  • 44. Holcombe RF, Stephenson DA, Zweidler A, Stewart RM, Chapman VM, Seidman JG. Linkage of loci associated with two pigment mutations on mouse chromosome 13. Genet Res 1991; 58:41-50.
  • 45. Jenkins NA, Justice MJ, Gilbert DJ, Chu ML, Copeland NG. Nidogen/entactin (Nid) maps to the proximal end of mouse choromosome 13 linked to beige (bg) and identifies a new region of homology between mouse and human chromosomes. Genomics 1991; 9:401-3.
  • 46. Barrat FJ, Auloge L, Pastural E, Lagelouse RD, Vimler E, Cant AJ, Weissenbach J, Le Paslier D, Fischer A, De Saint Basile G. Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43. Am J Hum Genet 1996; 59:625-33.
  • 47. Fukai K, Oh J, Karim MA, Moore KJ, Kandil HH, Oto H, Burger 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 . Am J Hum Genet 1996; 59:620-4.
  • 48. Klionsky DJ, Emr SD. A new class of lysosomal/vacuolar protein sorting signals. J Biol chem 1990; 265:5349-52.
  • 49. Stack JH, Herman PK, Schu PV, Emr SD. A membrane-associated complex containing the Vps15 protein kinase and the VPS34 PI 3-kinase is essential for protein sorting to the yeast lysoome-like vacuole. EMBO J 1993; 12:2195-204.
  • 50. Atlas De Dermatologia (http://www.iqb.es/dermatologia/atlas/griscelli.htm)
  • 51. Diukman R, Tanigawara S, Cowan MJ, Golbus MS. Prenatal diagnosis of Chediak-Higashi syndrome. Prenat Diagn 1992; 12:877-85.
  • 52. Durandy A, Breton-Gorius J, Guy-Grand D, Dumez C, Griscelli C. Prenatal diagnosis of syndromes associating albinism and immune deficiencies (Chediak-Higashi syndrome and variant). Prenat Diagn 1993; 13:13-20.
  • 53. Bejaoui M, Veber F, Girault D, Gaud C, Blanche S, Griscelli C, Fischer A. Phase acceleree de la maladie de Chediak-Higashi. Arch Fr Pediatr 1989; 46:733-6.
  • 54. Kazmierowski JA, Elin RJ, Reynolds HY, Durbin WA, Wolff SM. Chediak-Higashi syndrome: reversal of increased susceptibility to infection by bone marow transplantation. Blood 1976; 47:555-9
  • 55. Virelizier JL, Lagrue A, Durandy A, Arenzana F, Oury C, Griscelli C, Reinert P. Reversal of natural killer defect in a patient with Chediak-Higashi syndrome after bone marrow transplantation. Lancet 1982; 306:1055-6.
  • 56. Haddad E, Le Deist F, Blanche S , Benkerrou M, Rohrlich P, Vimler E, Griscelli C, Fischer A. Treatment of Chediak-Higashi syndrome by allogenic bone marrow transplantation. Blood 1955; 85:3328-33.
  • 57. Mottonen M, Lanning M, Saarinen UM. Allogenic bone marrow transplantation in Chediak-Higashi syndrome. Pediatr Hematol Oncol 1995; 12:55-9
  • 58. Klein C, Phillipe N, LeDeist F, Fraitag S, Prost C, Durandy A, Fisher A, Griscelli C. Partial albinism with immunodeficiency (Griscelli syndrome). J Pediatr 1994; 125:886-95.
  • 59. Mercer JA, Seperack PK, Strobel MC, Copeland NG, Jenkins NA. Novel myosin heavy chain encoded by murine dilute coat colour Locus. Nature 1991; 349:709-13.
  • 60. Wu X, Bowers B, Wei Q, Kocher B, Hammer JA III. Myosin V associates with melanosomes in mouse melanocytes: evidence that myosin V is an organelle motor. J Cell Sci 1967; 110:847-59.
  • 61. Harfi HA, Brismar J, Hainau B, Sabah R. Partial albinism, immunodeficiency, and progressive white matter disease: a new primary immunodeficiency. Allergy Proc 1992; 13:321-28.
  • 62. Spritz RA. Molecular genetics of the Hermansky-Pudlak and Chediak-Higashi syndromes. Platelets 1998; 9:21-30.
Toplam 62 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Research Article
Yazarlar

Zuhal Karalı Bu kişi benim

Sara Şebnem Kılıç Bu kişi benim

Yayımlanma Tarihi 1 Aralık 2007
Yayımlandığı Sayı Yıl 2007 Cilt: 5 Sayı: 3

Kaynak Göster

APA Karalı, Z., & Kılıç, S. Ş. (2007). Chediak-Higashi Sendromu. Güncel Pediatri, 5(3), 99-104.
AMA Karalı Z, Kılıç SŞ. Chediak-Higashi Sendromu. Güncel Pediatri. Aralık 2007;5(3):99-104.
Chicago Karalı, Zuhal, ve Sara Şebnem Kılıç. “Chediak-Higashi Sendromu”. Güncel Pediatri 5, sy. 3 (Aralık 2007): 99-104.
EndNote Karalı Z, Kılıç SŞ (01 Aralık 2007) Chediak-Higashi Sendromu. Güncel Pediatri 5 3 99–104.
IEEE Z. Karalı ve S. Ş. Kılıç, “Chediak-Higashi Sendromu”, Güncel Pediatri, c. 5, sy. 3, ss. 99–104, 2007.
ISNAD Karalı, Zuhal - Kılıç, Sara Şebnem. “Chediak-Higashi Sendromu”. Güncel Pediatri 5/3 (Aralık 2007), 99-104.
JAMA Karalı Z, Kılıç SŞ. Chediak-Higashi Sendromu. Güncel Pediatri. 2007;5:99–104.
MLA Karalı, Zuhal ve Sara Şebnem Kılıç. “Chediak-Higashi Sendromu”. Güncel Pediatri, c. 5, sy. 3, 2007, ss. 99-104.
Vancouver Karalı Z, Kılıç SŞ. Chediak-Higashi Sendromu. Güncel Pediatri. 2007;5(3):99-104.