SEARCH

SEARCH BY CITATION

References

  • 1
    Spritz RA. Genetic defects in Chediak–Higashi syndrome and the beige mouse. J Clin Immunol 1998;18: 97105
  • 2
    Introne W, Boissy RE, Gahl WA. Clinical, molecular, and cell biological aspects of Chediak–Higashi syndrome. Mol Genet Metab 1999;68: 283303DOI: 10.1006/mgme.1999.2927
  • 3
    Ward DM, Griffiths GM, Stinchcombe JC, Kaplan J. Analysis of the lysosomal storage disease Chediak–Higashi syndrome. Traffic 2000;1: 816822
  • 4
    Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow; report of two cases with histochemical studies. Blood 1959;14: 162169
  • 5
    Huizing M, Anikster Y, Gahl WA. Hermansky–Pudlak syndrome and Chediak–Higashi syndrome: disorders of vesicle formation and trafficking. Thromb Haemost 2001;86: 233245
  • 6
    Pastural E, Barrat FJ, Dufourcq-Lagelouse R, Certain S, Sanal O, Jabado N, Seger R, Griscelli C, Fischer A, De Saint Basile G. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nat Genet 1997;16: 289292
  • 7
    Barbosa MD, Nguyen QA, Tchernev VT, Ashley JA, Detter JC, Blaydes SM, Brandt SJ, Chotai D, Hodgman C, Solari RC. Identification of the homologous beige and Chediak–Higashi syndrome genes. Nature 1996;382: 262265
  • 8
    Perou CM, Moore KJ, Nagle DL, Misumi DJ, Woolf EA, McGrail SH, Holmgren L, Brody TH, Dussault BJ Jr., Monroe CA. Identification of the murine beige gene by YAC complementation and positional cloning. Nat Genet 1996;13: 303308
  • 9
    Nagle DL, Karim MA, Woolf EA, Holmgren L, Bork P, Misumi DJ, McGrail SH, Dussault BJ Jr., Perou CM, Boissy RE. Identification and mutation analysis of the complete gene for Chediak–Higashi syndrome. Nat Genet 1996;14: 307311
  • 10
    Barbosa MD, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, Pastural E, Dufourcq-Lagelouse R, Fischer A, Holcombe RF. Identification of mutations in two major mRNA isoforms of the Chediak–Higashi syndrome gene in human and mouse. Hum Mol Genet 1997;6: 10911098
  • 11
    Karim MA, Nagle DL, Kandil HH, Burger 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;6: 10871089
  • 12
    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: 918
  • 13
    BenEzra D, Mengistu F, Cividalli G, Weizman Z, Merin S, Auerbach E. Chediak–Higashi syndrome: ocular findings. J Pediatr Ophthalmol Strabismus 1980;17: 6874
  • 14
    Valenzuela R, Morningstar WA. The ocular pigmentary disturbance of human Chediak–Higashi syndrome. A comparative light- and electron-microscopic study and review of the literature. Am J Clin Pathol 1981;75: 591596
  • 15
    Spencer WH, Hogan MJ. Ocular manifestations of Chediak–Higashi syndrome: Report of a case with histopathologic examination of ocular tissues. Am J Ophthalmol 1960;50: 11971203
  • 16
    Zhao H, Boissy YL, Abdel-Malek Z, King RA, Nordlund JJ, Boissy RE. On the analysis of the pathophysiology of Chediak–Higashi syndrome. Defects expressed by cultured melanocytes. Laboratory Invest 1994;71: 2534
  • 17
    Buchanan GR, Handin RI. Platelet function in the Chediak–Higashi syndrome. Blood 1976;47: 941948
  • 18
    Rendu F, Breton-Gorius J, Lebret M, Klebanoff C, Buriot D, Griscelli C, Levy-Toledano S, Caen JP. Evidence that abnormal platelet functions in human Chediak–Higashi syndrome are the result of a lack of dense bodies. Am J Pathol 1983;111: 307314
  • 19
    Apitz-Castro R, Cruz MR, Ledezma E, Merino F, Ramirez-Duque P, Dangelmeier C, Holmsen H. The storage pool deficiency in platelets from humans with the Chediak–Higashi syndrome: study of six patients. Br J Haematol 1985;59: 471483
  • 20
    Parmley RT, Rahemtulla F, Cooper MD, Roden L. Ultrastructural and biochemical characterization of glycosaminoglycans in HNK-1-positive large granular lymphocytes. Blood 1985;66: 2025
  • 21
    White JG. Platelet microtubules and giant granules in the Chediak–Higashi syndrome. Am J Med Technol 1978;44: 273278
  • 22
    Holmsen H, Weiss HJ. Secretable storage pools in platelets. Ann Rev Med 1979;30: 119134
  • 23
    Padgett GA, Reiquam CW, Gorham JR, Henson JB, O'Mary CC. Comparative studies of the Chediak–Higashi syndrome. Am J Pathol 1967;51: 553571
  • 24
    Blume RS, Wolff SM. The Chediak–Higashi syndrome: studies in four patients and a review of the literature. Medicine (Baltimore) 1972;51: 247280
  • 25
    Baehner RL. Molecular basis for functional disorders of phagocytes. J Pediatr 1974;84: 317327
  • 26
    Lynch MJ. Mechanisms and defects of the phagocytic systems of defense against infection. Perspect Pediatr Pathol 1973;1: 33115
  • 27
    Quie PG. Disorders of phagocyte function. Curr Probl Pediatr 1972;2: 353
  • 28
    Singh RP, Gupta P, Santendra, Sen B. Chediak–Higashi syndrome – accelerated phase. Indian Pediatr 1994;31: 445448
  • 29
    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: 524530
  • 30
    Certain S, Barrat F, Pastural E, Le Deist F, Goyo-Rivas J, Jabado N, Benkerrou M, Seger R, Vilmer E, Beullier G. Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak–Higashi syndrome. Blood 2000;95: 979983
  • 31
    Baetz K, Isaaz S, Griffiths GM. Loss of cytotoxic T lymphocyte function in Chediak–Higashi syndrome arises from a secretory defect that prevents lytic granule exocytosis. J Immunol 1995;154: 61226131
  • 32
    Barrat FJ, Le Deist F, Benkerrou M, Bousso P, Feldmann J, Fischer A, De Saint Basile G. Defective CTLA-4 cycling pathway in Chediak–Higashi syndrome: a possible mechanism for deregulation of T lymphocyte activation. Proc Natl Acad Sci USA 1999;96: 86458650
  • 33
    Stinchcombe JC, Griffiths GM. Regulated secretion from hemopoietic cells. J Cell Biol 1999;147: 16
  • 34
    Stinchcombe JC, Page LJ, Griffiths GM. Secretory lysosome biogenesis in cytotoxic T lymphocytes from normal and Chediak–Higashi syndrome patients. Traffic 2000;1: 435444DOI: 10.1034/j.1600-0854.2000.010508.x
  • 35
    Abo T, Roder JC, Abo W, Cooper MD, Balch CM. Natural killer (HNK-1+) cells in Chediak–Higashi patients are present in normal numbers but are abnormal in function and morphology. J Clin Invest 1982;70: 193197
  • 36
    Haliotis T, Roder J, Klein M, Ortaldo J, Fauci AS, Herberman RB. Chediak–Higashi gene in humans I. Impairment of natural-killer function. J Exp Med 1980;151: 10391048
  • 37
    Klein M, Roder J, Haliotis T, Korec S, Jett JR, Herberman RB, Katz P, Fauci AS. Chediak–Higashi gene in humans. II. The selectivity of the defect in natural-killer and antibody-dependent cell-mediated cytotoxicity function. J Exp Med 1980;151: 10491058
  • 38
    Haddad E, Le Deist F, Blanche S, Benkerrou M, Rohrlich P, Vilmer E, Griscelli C, Fischer A. Treatment of Chediak–Higashi syndrome by allogenic bone marrow transplantation: report of 10 cases. Blood 1995;85: 33283333
  • 39
    Kazmierowski JA, Elin RJ, Reynolds HY, Durbin WA, Wolff SM. Chediak–Higashi syndrome: reversal of increased susceptibility to infection by bone marrow transplantation. Blood 1976;47: 555559
  • 40
    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. N Engl J Med 1982;306: 10551056
  • 41
    Mottonen M, Lanning M, Saarinen UM. Allogeneic bone marrow transplantation in Chediak–Higashi syndrome. Pediatr Hematol Oncol 1995;12: 5559
  • 42
    Liang JS, Lu MY, Tsai MJ, Lin DT, Lin KH. Bone marrow transplantation from an HLA-matched unrelated donor for treatment of Chediak–Higashi syndrome. J Formos Med Assoc 2000;99: 499502
  • 43
    Sung JH, Stadlan EM. Neuropathological changes in Chediak–Higashi disease. J Neuropathol Exp Neurol 1968;27: 156157
  • 44
    Sung JH, Meyers JP, Stadlan EM, Cowen D, Wolf A. Neuropathological changes in Chediak–Higashi disease. J Neuropathol Exp Neurol 1969;28: 86118
  • 45
    Hirano A, Zimmerman HM, Levine S, Padgett GA. Cytoplasmic inclusions in Chediak–Higashi and Wobbler mink. An electron microscopic study of the nervous system. J Neuropathol Exp Neurol 1971;30: 470487
  • 46
    Libert J, Dhermy P, Van Hoof F, Dufier JL, Cornu G. Ocular findings in Chediak–Higashi disease: a light and electron microscopic study of two patients. Birth Defects Orig Artic Series 1982;18: 327344
  • 47
    Perou CM, Kaplan J. Complementation analysis of Chediak–Higashi syndrome: the same gene may be responsible for the defect in all patients and species. Somat Cell Mol Genet 1993;19: 459468
  • 48
    Justice MJ, Silan CM, Ceci JD, Buchberg AM, Copeland NG, Jenkins NA. A molecular genetic linkage map of mouse chromosome 13 anchored by the beige (bg) and satin (sa) loci. Genomics 1990;6: 341351
  • 49
    Barrat FJ, Auloge L, Pastural E, Lagelouse RD, Vilmer 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: 625632
  • 50
    Fukai K, Oh J, Karim MA, Moore KJ, Kandil HH, Ito 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 (bg). Am J Hum Genet 1996;59: 620624
  • 51
    Karim MA, Suzuki K, Fukai K, Oh J, Nagle DL, Moore KJ, Barbosa E, Falik-Borenstein T, Filipovich A, Ishida Y. Apparent genotype–phenotype correlation in childhood, adolescent, and adult Chediak–Higashi syndrome. Am J Med Genet 2002;108: 1622
  • 52
    Lutzner MA, Lowrie CT, Jordan HW. Giant granules in leukocytes of the beige mouse. J Hered 1967;58: 299300
  • 53
    Nishimura M, Inoue M, Nakano T, Nishikawa T, Miyamoto M, Kobayashi T, Kitamura Y. Beige rat: a new animal model of Chediak–Higashi syndrome. Blood 1989;74: 270273
  • 54
    Kramer JW, Davis WC, Prieur DJ. The Chediak–Higashi syndrome of cats. Laboratory Invest 1977;36: 554562
  • 55
    Ridgway SH. Reported causes of death of captive killer whales (Orcinus orca). J Wildl Dis 1979;15: 99104
  • 56
    Yamakuchi H, Agaba M, Hirano T, Hara K, Todoroki J, Mizoshita K, Kubota C, Tabara N, Sugimoto Y. Chediak–Higashi syndrome mutation and genetic testing in Japanese black cattle (Wagyu). Anim Genet 2000;31: 1319DOI: 10.1046/j.1365-2052.2000.00586.x
  • 57
    Kunieda T, Nakagiri M, Takami M, Ide H, Ogawa H. Cloning of bovine LYST gene and identification of a missense mutation associated with Chediak–Higashi syndrome of cattle. Mamm Genome 1999;10: 11461149
  • 58
    Peifer M, Berg S, Reynolds AB. A repeating amino acid motif shared by proteins with diverse cellular roles [letter]. Cell 1994;76: 789791
  • 59
    Andrade MA, Petosa C, O'Donoghue SI, Muller CW, Bork P. Comparison of ARM and HEAT protein repeats. J Mol Biol 2001;309: 118DOI: 10.1006/jmbi.2001.4624
  • 60
    Andrade MA, Bork P. HEAT repeats in the Huntington's disease protein. Nat Genet 1995;11: 115116
  • 61
    Londos C, Brasaemle DL, Schultz CJ, Segrest JP, Kimmel AR. Perilipins, ADRP, and other proteins that associate with intracellular neutral lipid droplets in animal cells. Semin Cell Dev Biol 1999;10: 5158
  • 62
    Diaz E, Pfeffer SR. TIP47: a cargo selection device for mannose 6-phosphate receptor trafficking. Cell 1998;93: 433443
  • 63
    Krise JP, Sincock PM, Orsel JG, Pfeffer SR. Quantitative analysis of TIP47-receptor cytoplasmic domain interactions: implications for endosome-to-trans Golgi network trafficking. J Biol Chem 2000;275:25 18825 193
  • 64
    Cornillon S, Dubois A, Bruckert F, Lefkir Y, Marchetti A, Benghezal M, De Lozanne A, Letourneur F, Cosson P. Two members of the beige/CHS (BEACH) family are involved at different stages in the organization of the endocytic pathway in Dictyostelium. J Cell Sci 2002;115: 737744
  • 65
    Neer EJ, Schmidt CJ, Nambudripad R, Smith TF. The ancient regulatory-protein family of WD-repeat proteins. Nature 1994;371: 297300
  • 66
    Wang X, Herberg FW, Laue MM, Wullner C, Hu B, Petrasch-Parwez E, Kilimann MW. Neurobeachin: a protein kinase A-anchoring, beige/Chediak-higashi protein homolog implicated in neuronal membrane traffic. J Neurosci 2000;20: 85518565
  • 67
    Adam-Klages S, Adam D, Wiegmann K, Struve S, Kolanus W, Schneider-Mergener J, Kronke M. FAN, a novel WD-repeat protein, couples the p55 TNF-receptor to neutral sphingomyelinase. Cell 1996;86: 937947
  • 68
    Feuchter AE, Freeman JD, Mager DL. Strategy for detecting cellular transcripts promoted by human endogenous long terminal repeats: identification of a novel gene (CDC4L) with homology to yeast CDC4. Genomics 1992;13: 12371246
  • 69
    Han JD, Baker NE, Rubin CS. Molecular characterization of a novel A kinase anchor protein from Drosophila melanogaster. J Biol Chem 1997;272: 2661126619
  • 70
    Gerald NJ, Siano M, De Lozanne A. The dictyostelium LvsA protein is localized on the contractile vacuole and is required for osmoregulation. Traffic 2002;3: 5060DOI: 10.1034/j.1600-0854.2002.30107.x
  • 71
    Harris E, Wang N, Wu Wl WL, Weatherford A, De Lozanne A, Cardelli J. Dictyostelium LvsB mutants model the lysosomal defects associated with Chediak–Higashi syndrome. Mol Biol Cell 2002;13: 656669
  • 72
    Kraut R, Menon K, Zinn K. A gain-of-function screen for genes controlling motor axon guidance and synaptogenesis in Drosophila. Curr Biol 2001;11: 41744130
  • 73
    Perou CM, Leslie JD, Green W, Li L, Ward DM, Kaplan J. The Beige/Chediak–Higashi syndrome gene encodes a widely expressed cytosolic protein. J Biol Chem 1997;272:29 79029 794
  • 74
    Oliver JM, Zurier RB. Correction of characteristic abnormalities of microtubule function and granule morphology in Chediak–Higashi syndrome with cholinergic agonists. J Clin Invest 1976;57: 12391247
  • 75
    Oliver JM. Impaired microtubule function correctable by cyclic GMP and cholinergic agonists in the Chediak–Higashi syndrome. Am J Pathol 1976;85: 395418
  • 76
    Hinds K, Danes BS. Letter: Microtubular defect in Chediak–Higashi syndrome. Lancet 1976;2: 146147
  • 77
    Boxer LA, Watanabe AM, Rister M, Besch HR Jr., Allen J, Baehner RL. Correction of leukocyte function in Chediak–Higashi syndrome by ascorbate. N Engl J Med 1976;295: 10411045
  • 78
    Boxer LA, Albertini DF, Baehner RL, Oliver JM. Impaired microtubule assembly and polymorphonuclear leucocyte function in the Chediak–Higashi syndrome correctable by ascorbic acid. Br J Haematol 1979;43: 207213
  • 79
    Perou CM, Kaplan J. Chediak–Higashi syndrome is not due to a defect in microtubule-based lysosomal mobility. J Cell Sci 1993;106: 99107
  • 80
    Faigle W, Raposo G, Tenza D, Pinet V, Vogt AB, Kropshofer H, Fischer A, De Saint-Basile G, Amigorena S. Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak–Higashi syndrome. J Cell Biol 1998;141: 11211134
  • 81
    Stinchcombe JC, Griffiths GM. Normal and abnormal secretion by haemopoietic cells. Immunology 2001;103: 1016DOI: 10.1046/j.1365-2567.2001.01225.x
  • 82
    Lem L, Riethof DA, Scidmore-Carlson M, Griffiths GM, Hackstadt T, Brodsky FM. Enhanced interaction of HLA-DM with HLA-DR in enlarged vacuoles of hereditary and infectious lysosomal diseases. J Immunol 1999;162: 523532
  • 83
    Marks MS, Seabra MC. The melanosome: membrane dynamics in black and white. Nat Rev Mol Cell Biol 2001;2: 738748
  • 84
    Lloyd V, Ramaswami M, Kramer H. Not just pretty eyes: Drosophila eye-colour mutations and lysosomal delivery. Trends Cell Biol 1998;8: 257259
  • 85
    Galli SJ, Dvorak AM, Hammel I. Mast cell abnormalities in the Chediak–Higashi syndrome. Int Arch Allergy Immunol 1993;100: 8992
  • 86
    Hammel I, Dvorak AM, Fox P, Shimoni E, Galli SJ. Defective cytoplasmic granule formation. II. Differences in patterns of radiolabeling of secretory granules in beige versus normal mouse pancreatic acinar cells after [3H]glycine administration in vivo. Cell Tissue Res 1998;293: 445452
  • 87
    Boxer LA, Smolen JE. Neutrophil granule constituents and their release in health and disease. Hematol Oncol Clin North Am 1988;2: 101134
  • 88
    Cui SH, Tanabe F, Terunuma H, Iwatani Y, Nunoi H, Agematsu K, Komiyama A, Nomura A, Hara T, Onodera T. A thiol proteinase inhibitor, E-64-d, corrects the abnormalities in concanavalin A cap formation and the lysosomal enzyme activity in leucocytes from patients with Chediak–Higashi syndrome by reversing the down-regulated protein kinase C activity. Clin Exp Immunol 2001;125: 283290
  • 89
    Ito M, Tanabe F, Takami Y, Sato A, Shigeta S. Rapid down-regulation of protein kinase C in (Chediak–Higashi syndrome) beige mouse by phorbol ester. Biochem Biophys Res Commun 1988;153: 648656
  • 90
    Ito M, Sato A, Tanabe F, Ishida E, Takami Y, Shigeta S. The thiol proteinase inhibitors improve the abnormal rapid down-regulation of protein kinase C and the impaired natural killer cell activity in (Chediak–Higashi syndrome) beige mouse. Biochem Biophys Res Commun 1989;160: 433440
  • 91
    Tanabe F, Cui SH, Ito M. Abnormal down-regulation of PKC is responsible for giant granule formation in fibroblasts from CHS (beige) mice – a thiol proteinase inhibitor, E-64-d, prevents giant granule formation in beige fibroblasts. J Leukoc Biol 2000;67: 749755
  • 92
    Kanfer JN, Richards R, Kampine JP, Handmaker S, Yankee RA. Alteration of e sphingolipid content in leucocytes from patients with Chediak–Higashi syndrome. Life Sci 1967;6: 26612664
  • 93
    Kanfer JN, Blume RS, Yankee RA, Wolff SM. Alteration of sphingolipid metabolism in leukocytes from patients with the Chediak–Higashi syndrome. N Engl J Med 1968;279: 410413
  • 94
    Prueitt JL, Chi EY, Lagunoff D. Pulmonary surface-active materials in the Chediak–Higashi syndrome. J Lipid Res 1978;19: 410415
  • 95
    Ingraham LM, Burns CP, Boxer LA, Baehner RL, Haak RA. Fluidity properties and liquid composition of erythrocyte membranes in Chediak–Higashi syndrome. J Cell Biol 1981;89: 510516
  • 96
    Sato A, Tanabe F, Ito M, Ishida E, Shigeta S. Thiol proteinase inhibitors reverse the increased protein kinase C down-regulation and concanavalin A cap formation in polymorphonuclear leukocytes from Chediak–Higashi syndrome (beige) mouse. J Leukoc Biol 1990;48: 377381