Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity

Blood

Volumn 105, Issue 7, 2005, Pages 2658-2663

  Feldmann, Jérôme ^b   Ménasché, Gaël ^b   Callebaut, Isabelle ^b   Minard Colin, Véronique ^b   Bader Meunier, Brigitte ^b   Le Clainche, Laurence ^b   Fischer, Alain ^b   Le Deist, Françoise ^b   Tardieu, Marc ^b   De Saint Basile, Geneviève ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CYCLOSPORIN A; DNA; METHYLPREDNISOLONE; PERFORIN; PHOSPHOLIPASE A2; PHOSPHOLIPASE C; PREDNISONE;

ARTICLE; CALCIUM BINDING; CASE REPORT; CHROMOSOME 10Q; CONTROLLED STUDY; CYTOLYSIS; CYTOTOXICITY; EARLY DIAGNOSIS; ENCEPHALITIS; EXOCYTOSIS; FEVER; FLOW CYTOMETRY; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HEPATOSPLENOMEGALY; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; IN VITRO STUDY; INFANT; LYMPHOCYTIC INFILTRATION; MACROPHAGE; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PANCYTOPENIA; PERIPHERAL BLOOD MONONUCLEAR CELL; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 20144389453     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2004-09-3590     Document Type: Article

References (20)

1. Stepp S, Dufourcq-Lagelouse R, Le Deist F, et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 1999;286:1957-1959.
2. Feldmann J, Callebaut I, Raposo G, et al. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell. 2003;115:461-473.
3. Henter JI, Arico M, Elinder G, Imashuku S, Janka G. Familial hemophagocytic lymphohistiocytosis: primary hemophagocytic lymphohistiocytosis. Hematol Oncol Clin North Am. 1998;12:417-433.
4. Haddad E, Sulis ML, Jabado N, Blanche S, Fischer A, Tardieu M. Frequency and severity of central nervous system lesions in hemophagocytic lymphohistiocytosis. Blood. 1997;89:794-800.
5. Henter JI, Nennesmo I. Neuropathologic findings and neurologic symptoms in twenty-three children with hemophagocytic lymphohistiocytosis. J Pediatr. 1997;130:358-365.
6. Kieslich M, Vecchi M, Driever PH, Laverda AM, Schwabe D, Jacobi G. Acute encephalopathy as a primary manifestation of haemophagocytic lymphohistiocytosis. Dev Med Child Neurol. 2001;43:555-558.
7. Henter JI, Elinder G. Cerebromeningeal haemophagocytic lymphohistiocytosis. Lancet. 1992;339:104-107.
8. Henter JI, Elinder G, Ost A. Diagnostic guidelines for hemophagocytic lymphohistiocytosis: the FHL Study Group of the Histiocyte Society. Semin Oncol. 1991;18:29-33.
9. Feldmann J, Le Deist F, Ouachee-Chardin M, et al. Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis. Br J Haematol. 2002;117:965-972.
10. Dufourcq-Lagelouse R, Jabado N, Le Deist F, et al. Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity. Am J Hum Genet. 1999;64:172-179.
11. Callebaut I, Labesse G, Durand P, et al. Deciphering protein sequence information through hydrophobic cluster analysis (HCA): current status and perspectives. Cell Mol Life Sci. 1997;53:621-645.
12. Uellner R, Zvelebil MJ, Hopkins J, et al. Perforin is activated by a proteolytic cleavage during biosynthesis which reveals a phospholipid-binding C2 domain. EMBO J. 1997;16:7287-7296.
13. Guex N, Peitsch MC. SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling. Electrophoresis. 1997;18:2714-2723.
14. Sali A, Potterton L, Yuan F, van Vlijmen H, Karplus M. Evaluation of comparative protein modeling by MODELLER. Proteins. 1995;23:318-326.
15. Ménasché G, Pastural E, Feldmann J, et al. Mutations in RAB27A cause Griscelli syndrome associated with hemophagocytic syndrome. Nat Genet. 2000;25:173-176.
16. Rizo J, Sudhof TC. C2-domains, structure and function of a universal Ca2+-binding domain. J Biol Chem. 1998;273:15879-15882.
17. Nalefski EA, Falke JJ. The C2 domain calcium-binding motif: structural and functional diversity. Protein Sci. 1996;5:2375-2390.
18. Arico M, Allen M, Brusa S, et al. Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression. Br J Haematol. 2002;119:180-188.
19. Rostasy K, Kolb R, Pohl D, et al. CNS disease as the main manifestation of hemophagocytic lymphohistiocytosis in two children. Neuropediatrics. 2004;35:45-49.
20. Imashuku S. Clinical features and treatment strategies of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. Crit Rev Oncol Hematol. 2002;44:259-272.