Type II Gaucher disease manifesting as haemophagocytic lymphohistiocytosis

Journal of Inherited Metabolic Disease

Volumn 32, Issue SUPPL. 1, 2009, Pages

  Sharpe, L R ^a   Ancliff, P ^a   Amrolia, P ^a   Gilmour, K C ^a   Vellodi, A ^a,b  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b Metabolic Unit   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; UNC13D PROTEIN, HUMAN;

ARTICLE; CASE REPORT; DIFFERENTIAL DIAGNOSIS; FATALITY; FEMALE; GAUCHER DISEASE; GENETICS; HEMOPHAGOCYTIC SYNDROME; HUMAN; INFANT;

DIAGNOSIS, DIFFERENTIAL; FATAL OUTCOME; FEMALE; GAUCHER DISEASE; HUMANS; INFANT; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MEMBRANE PROTEINS;

EID: 84880988472     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1091-2     Document Type: Article

References (15)

1. Beutler E, Grabowski GA (2001) Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3635-3638.
2. Feldmann J, Callebaut I, Raposo G, et al (2003) Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell 115: 461-473. doi:10.1016/S0092-8674(03)00855- 9. (Pubitemid 37456808)
3. Filipovich AH (2005) Life-threatening hemophagocytic syndromes: current outcomes with hematopoietic stem cell transplantation. Pediatr Transplant 9(Supplement 7): 87-91. doi:10.1111/j.1399-3046.2005.00449.x.
4. Haddad E, Sulis ML, Jabado N, Blanche S, Fischer A, Tardieu M (1997) Frequency and severity of central nervous system lesions in hemophagocytic lymphohistiocytosis. Blood 89: 794-800. (Pubitemid 27121272)
5. Henter JI, Horne A, Arico M, et al (2007) HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 48: 124-131. doi:10.1002/pbc.21039. (Pubitemid 44958267)
6. Henter JI, Samuelsson-Horne A, Arico M, et al (2002) Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation. Blood 100: 2367-2373. doi:10.1182/blood-2002-01-0172.
7. Hong YB, Kim EY, Jung SC (2006) Upregulation of pro-inflammatory cytokines in the fetal brain of the Gaucher mouse. J Korean Med Sci 21: 733-738. doi:10.3346/jkms.2006.21.4.733.
8. Janka G, zur Statdt U (2005) Familial and acquired hemophagocytic lymphohistiocytosis. Hematology Am Soc Hematol Educ Program 82-88. doi:10.1182/asheducation-2005.1.82.
9. Janka GE (1983) Familial hemophagocytic lymphohistiocytosis. Eur J Pediatr 140: 221-230. doi:10.1007/BF00443367.
10. Mignot C, Doummar D, Maire I, de Villemeur TB (2006) Type 2 Gaucher disease: 15 new cases and review of the literature. Brain Dev 28: 39-48. doi:10.1016/j.braindev.2005.04.005. (Pubitemid 43042437)
11. Mizukami H, Mi Y, Wada R, et al (2002) Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage. J Clin Invest 109: 1215-1221. (Pubitemid 34496599)
12. Ravelli A, Magni-Manzoni S, Pistorio A, et al (2005) Preliminary diagnostic guidelines for macrophage activation syndrome complicating systemic juvenile idiopathic arthritis. J Pediatr 146: 598-604. doi:10.1016/j.jpeds.2004. 12.016. (Pubitemid 40616243)
13. Ron I, Horowitz M (2005) ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity. Hum Mol Genet 14: 2387-2398. doi:10.1093/hmg/ddi240. (Pubitemid 41418000)
14. Stepp SE, Dufourcq-Lagelouse R, Le Deist F, et al (1999) Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 286: 1957-1959. doi:10.1126/science.286.5446.1957. (Pubitemid 129515904)
15. zur Stadt U, Schmidt S, Kasper B, et al (2005) Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet 14: 827-834. doi:10.1093/hmg/ddi076. (Pubitemid 40403278)