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Volumn 42, Issue , 2018, Pages 105-111

Secondary hemophagocytic syndrome associated with cog6 gene defect: Report and review

Author keywords

CDG; COG6 CDG; Congenital disorders of glycosylation; Hemophagocytic syndrome; HLH; Inborn errors of metabolism; Serum transferrin isoelectric focusing; Shaheen syndrome

Indexed keywords


EID: 85060344100     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2018_88     Document Type: Chapter
Times cited : (25)

References (38)
  • 1
    • 85026311330 scopus 로고    scopus 로고
    • Congenital disorders of glycosylation: The Saudi experience
    • Alsubhi S, Alhashem A, Faqeih E et al (2017) Congenital disorders of glycosylation: the Saudi experience. Am J Med Genet A 173: 2614–2621
    • (2017) Am J Med Genet A , vol.173 , pp. 2614-2621
    • Alsubhi, S.1    Alhashem, A.2    Faqeih, E.3
  • 2
    • 85040779769 scopus 로고    scopus 로고
    • Macrophage activation syndrome as a complication of juvenile rheumatoid arthritis
    • An Q, Jin MW, An XJ, Xu SM, Wang L (2017) Macrophage activation syndrome as a complication of juvenile rheumatoid arthritis. Eur Rev Med Pharmacol Sci 21:4322–4326
    • (2017) Eur Rev Med Pharmacol Sci , vol.21 , pp. 4322-4326
    • An, Q.1    Jin, M.W.2    An, X.J.3    Xu, S.M.4    Wang, L.5
  • 3
    • 0033057615 scopus 로고    scopus 로고
    • Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysi-nuric protein intolerance
    • Duval M, Fenneteau O, Doireau V et al (1999) Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysi-nuric protein intolerance. J Pediatr 134:236–239
    • (1999) J Pediatr , vol.134 , pp. 236-239
    • Duval, M.1    Fenneteau, O.2    Doireau, V.3
  • 4
    • 84924362559 scopus 로고    scopus 로고
    • Primary lymphoma of the brain in a young man whose brother died of hemophagocytic lymphohistiocytosis: Case report
    • Dzoljic E, Stosic-Opincal T, Skender-Gazibara M et al (2015) Primary lymphoma of the brain in a young man whose brother died of hemophagocytic lymphohistiocytosis: case report. Srp Arh Celok Lek 143:63–67
    • (2015) Srp Arh Celok Lek , vol.143 , pp. 63-67
    • Dzoljic, E.1    Stosic-Opincal, T.2    Skender-Gazibara, M.3
  • 5
    • 84994672072 scopus 로고    scopus 로고
    • An unusual case of LCHAD deficiency presenting with a clinical picture of hemophagocytic lymphohistiocytosis: Secondary HLH or coincidence?
    • Erdol S, Ture M, Baytan B, Yakut T, Saglam H (2016) An unusual case of LCHAD deficiency presenting with a clinical picture of hemophagocytic lymphohistiocytosis: secondary HLH or coincidence? J Pediatr Hematol Oncol 38:661–662
    • (2016) J Pediatr Hematol Oncol , vol.38 , pp. 661-662
    • Erdol, S.1    Ture, M.2    Baytan, B.3    Yakut, T.4    Saglam, H.5
  • 6
    • 34249730324 scopus 로고    scopus 로고
    • A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1–Cog8 interaction in COG complex formation
    • Foulquier F, Ungar D, Reynders E et al (2007) A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1–Cog8 interaction in COG complex formation. Hum Mol Genet 16:717–730
    • (2007) Hum Mol Genet , vol.16 , pp. 717-730
    • Foulquier, F.1    Ungar, D.2    Reynders, E.3
  • 7
    • 84861959821 scopus 로고    scopus 로고
    • Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism
    • Gokce M, Unal O, Hismi B et al (2012) Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism. Pediatr Hematol Oncol 29:92–98
    • (2012) Pediatr Hematol Oncol , vol.29 , pp. 92-98
    • Gokce, M.1    Unal, O.2    Hismi, B.3
  • 8
    • 0027178380 scopus 로고
    • Familial hemophagocytic lymphohistiocytosis and viral infections
    • Henter JI, Ehrnst A, Andersson J, Elinder G (1993) Familial hemophagocytic lymphohistiocytosis and viral infections. Acta Paediatr 82:369–372
    • (1993) Acta Paediatr , vol.82 , pp. 369-372
    • Henter, J.I.1    Ehrnst, A.2    Andersson, J.3    Elinder, G.4
  • 9
    • 33845619137 scopus 로고    scopus 로고
    • HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis
    • Henter JI, Horne A, Arico M et al (2007) HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 48:124–131
    • (2007) Pediatr Blood Cancer , vol.48 , pp. 124-131
    • Henter, J.I.1    Horne, A.2    Arico, M.3
  • 10
    • 84901267574 scopus 로고    scopus 로고
    • Deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG): Second patient, different phenotype
    • Huybrechts S, De Laet C, Bontems P et al (2012) Deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG): second patient, different phenotype. JIMD Rep 4:103–108
    • (2012) JIMD Rep , vol.4 , pp. 103-108
    • Huybrechts, S.1    de Laet, C.2    Bontems, P.3
  • 12
    • 0020578818 scopus 로고
    • Familial hemophagocytic lymphohistiocytosis
    • Janka GE (1983) Familial hemophagocytic lymphohistiocytosis. Eur J Pediatr 140:221–230
    • (1983) Eur J Pediatr , vol.140 , pp. 221-230
    • Janka, G.E.1
  • 13
    • 85016568747 scopus 로고    scopus 로고
    • The immunoregulatory roles of antibody glycosylation
    • Jennewein MF, Alter G (2017) The immunoregulatory roles of antibody glycosylation. Trends Immunol 38:358–372
    • (2017) Trends Immunol , vol.38 , pp. 358-372
    • Jennewein, M.F.1    Alter, G.2
  • 14
    • 78651382834 scopus 로고    scopus 로고
    • Niemann–Pick disease associated with hemophagocytic syndrome
    • Karaman S, Urganci N, Kutluk G, Cetinkaya F (2010) Niemann–Pick disease associated with hemophagocytic syndrome. Turk J Haematol 27:303–307
    • (2010) Turk J Haematol , vol.27 , pp. 303-307
    • Karaman, S.1    Urganci, N.2    Kutluk, G.3    Cetinkaya, F.4
  • 16
    • 84871567838 scopus 로고    scopus 로고
    • An unusual presentation of galactosemia: Hemophagocytic lymphohistiocytosis
    • Kundak AA, Zenciroglu A, Yarali N et al (2012) An unusual presentation of galactosemia: hemophagocytic lymphohistiocytosis. Turk J Haematol 29:401–404
    • (2012) Turk J Haematol , vol.29 , pp. 401-404
    • Kundak, A.A.1    Zenciroglu, A.2    Yarali, N.3
  • 17
    • 77956096967 scopus 로고    scopus 로고
    • Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation
    • Lubbehusen J, Thiel C, Rind N et al (2010) Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation. Hum Mol Genet 19:3623–3633
    • (2010) Hum Mol Genet , vol.19 , pp. 3623-3633
    • Lubbehusen, J.1    Thiel, C.2    Rind, N.3
  • 18
    • 84899411031 scopus 로고    scopus 로고
    • Cell biological steps and checkpoints in accessing NK cell cytotoxicity
    • Mace EM, Dongre P, Hsu HT et al (2014) Cell biological steps and checkpoints in accessing NK cell cytotoxicity. Immunol Cell Biol 92:245–255
    • (2014) Immunol Cell Biol , vol.92 , pp. 245-255
    • Mace, E.M.1    Dongre, P.2    Hsu, H.T.3
  • 19
    • 0344002689 scopus 로고    scopus 로고
    • Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
    • Menasche G, Pastural E, Feldmann J et al (2000) Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet 25:173–176
    • (2000) Nat Genet , vol.25 , pp. 173-176
    • Menasche, G.1    Pastural, E.2    Feldmann, J.3
  • 20
    • 34249678544 scopus 로고    scopus 로고
    • A common mutation in the COG7 gene with a consistent phenotype including micro-cephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia
    • Morava E, Zeevaert R, Korsch E et al (2007) A common mutation in the COG7 gene with a consistent phenotype including micro-cephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. Eur J Hum Genet 15:638–645
    • (2007) Eur J Hum Genet , vol.15 , pp. 638-645
    • Morava, E.1    Zeevaert, R.2    Korsch, E.3
  • 21
    • 0031783123 scopus 로고    scopus 로고
    • Anaemia and thrombocytopenia due to haemophagocytosis in a 7-month-old boy with galactosialidosis
    • Olcay L, Gumruk F, Boduroglu K, Coskun T, Tuncbilek E (1998) Anaemia and thrombocytopenia due to haemophagocytosis in a 7-month-old boy with galactosialidosis. J Inherit Metab Dis 21: 679–680
    • (1998) J Inherit Metab Dis , vol.21 , pp. 679-680
    • Olcay, L.1    Gumruk, F.2    Boduroglu, K.3    Coskun, T.4    Tuncbilek, E.5
  • 23
    • 85042309382 scopus 로고    scopus 로고
    • Congenital disorders of glycosylation (CDG): Quo vadis?
    • Peanne R, de Lonlay P, Foulquier F et al (2017) Congenital disorders of glycosylation (CDG): quo vadis? Eur J Med Genet. https://doi. org/10.1016/j.ejmg.2017
    • (2017) Eur J Med Genet
    • Peanne, R.1    de Lonlay, P.2    Foulquier, F.3
  • 24
    • 68749117665 scopus 로고    scopus 로고
    • Golgi function and dysfunction in the first COG4-deficient CDG type II patient
    • Reynders E, Foulquier F, Leao Teles E et al (2009) Golgi function and dysfunction in the first COG4-deficient CDG type II patient. Hum Mol Genet 18:3244–3256
    • (2009) Hum Mol Genet , vol.18 , pp. 3244-3256
    • Reynders, E.1    Foulquier, F.2    Leao Teles, E.3
  • 25
    • 84866112912 scopus 로고    scopus 로고
    • Roles for major histocompatibility complex glycosylation in immune function
    • Ryan SO, Cobb BA (2012) Roles for major histocompatibility complex glycosylation in immune function. Semin Immuno-pathol 34:425–441
    • (2012) Semin Immuno-Pathol , vol.34 , pp. 425-441
    • Ryan, S.O.1    Cobb, B.A.2
  • 26
    • 84948716414 scopus 로고    scopus 로고
    • Key features and clinical variability of COG6-CDG
    • Rymen D, Winter J, Van Hasselt PM et al (2015) Key features and clinical variability of COG6-CDG. Mol Genet Metab 116: 163–170
    • (2015) Mol Genet Metab , vol.116 , pp. 163-170
    • Rymen, D.1    Winter, J.2    van Hasselt, P.M.3
  • 27
    • 85028562912 scopus 로고    scopus 로고
    • Hemophagocytic syndrome: Primary forms and predisposing conditions
    • Sepulveda FE, de Saint Basile G (2017) Hemophagocytic syndrome: primary forms and predisposing conditions. Curr Opin Immunol 49:20–26
    • (2017) Curr Opin Immunol , vol.49 , pp. 20-26
    • Sepulveda, F.E.1    de Saint Basile, G.2
  • 28
    • 84883197530 scopus 로고    scopus 로고
    • A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency
    • Shaheen R, Ansari S, Alshammari MJ et al (2013) A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. J Med Genet 50:431–436
    • (2013) J Med Genet , vol.50 , pp. 431-436
    • Shaheen, R.1    Ansari, S.2    Alshammari, M.J.3
  • 31
    • 79955157676 scopus 로고    scopus 로고
    • Advances in hemophagocytic lymphohistiocytosis: Pathogenesis, early diagnosis/differential diagnosis, and treatment
    • Tang YM, Xu XJ (2011) Advances in hemophagocytic lymphohistiocytosis: pathogenesis, early diagnosis/differential diagnosis, and treatment. ScientificWorldJournal 11:697–708
    • (2011) Scientificworldjournal , vol.11 , pp. 697-708
    • Tang, Y.M.1    Xu, X.J.2
  • 33
    • 62749183625 scopus 로고    scopus 로고
    • Two new cases with Pearson syndrome and review of Hacettepe experience
    • Topaloglu R, Lebre AS, Demirkaya E et al (2008) Two new cases with Pearson syndrome and review of Hacettepe experience. Turk J Pediatr 50:572–576
    • (2008) Turk J Pediatr , vol.50 , pp. 572-576
    • Topaloglu, R.1    Lebre, A.S.2    Demirkaya, E.3
  • 34
    • 0037193464 scopus 로고    scopus 로고
    • Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function
    • Ungar D, Oka T, Brittle EE et al (2002) Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. J Cell Biol 157: 405–415
    • (2002) J Cell Biol , vol.157 , pp. 405-415
    • Ungar, D.1    Oka, T.2    Brittle, E.E.3
  • 35
    • 31744445155 scopus 로고    scopus 로고
    • Hemophagocytic lymphohistiocytosis: Diagnosis, pathophysiology, treatment, and future perspectives
    • Verbsky JW, Grossman WJ (2006) Hemophagocytic lymphohistiocytosis: diagnosis, pathophysiology, treatment, and future perspectives. Ann Med 38:20–31
    • (2006) Ann Med , vol.38 , pp. 20-31
    • Verbsky, J.W.1    Grossman, W.J.2
  • 36
    • 27644458801 scopus 로고    scopus 로고
    • Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis
    • Wu S, Gonzalez-Gomez I, Coates T, Yano S (2005) Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis. Pediatr Hematol Oncol 22:717–721
    • (2005) Pediatr Hematol Oncol , vol.22 , pp. 717-721
    • Wu, S.1    Gonzalez-Gomez, I.2    Coates, T.3    Yano, S.4
  • 37
    • 67650216533 scopus 로고
    • Hemophagocytic lymphohistiocytosis, familial
    • Adam MP, Ardinger HH, Pagon RA et al (eds), University of Washington, Seattle, Seattle
    • Zhang K, Filipovich AH, Johnson J, Marsh RA, Villanueva J (1993) Hemophagocytic lymphohistiocytosis, familial. In: Adam MP, Ardinger HH, Pagon RA et al (eds) GeneReviews®. University of Washington, Seattle, Seattle
    • (1993) GeneReviews®
    • Zhang, K.1    Filipovich, A.H.2    Johnson, J.3    Marsh, R.A.4    Villanueva, J.5
  • 38
    • 84885042881 scopus 로고    scopus 로고
    • HLH-2004 protocol: Diagnostic and therapeutic guidelines for childhood hemophagocytic lymphohistiocytosis
    • Zhang JR, Liang XL, Jin R, Lu G (2013) HLH-2004 protocol: diagnostic and therapeutic guidelines for childhood hemophagocytic lymphohistiocytosis. Zhongguo Dang Dai Er Ke Za Zhi 15:686–688
    • (2013) Zhongguo Dang Dai Er Ke Za Zhi , vol.15 , pp. 686-688
    • Zhang, J.R.1    Liang, X.L.2    Jin, R.3    Lu, G.4


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