A novel assay for investigation of suspected familial haemophagocytic lymphohistiocytosis: Correspondence

British Journal of Haematology

Volumn 150, Issue 6, 2010, Pages 727-730

  Wheeler, Rachel D ^a   Cale, Catherine M ^a   Cetica, Valentina ^b   Aricò, Maurizio ^b   Gilmour, Kimberly C ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b UNIVERSITY OF FLORENCE   (Italy)

Author keywords

diagnostic haematology; flow cytometry; genetics; haemophagocytic syndrome

Indexed keywords

CD8+ T LYMPHOCYTE; CHROMOSOME 9; CYTOTOXIC T LYMPHOCYTE; DEGRANULATION ASSAY; DIAGNOSTIC TEST; GENE; GENE MUTATION; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HUMAN; LETTER; NATURAL KILLER CELL; PRF1 GENE; PRIORITY JOURNAL; PROTEIN DETERMINATION; STX11 GENE; UNC13D GENE; XIAP GENE;

BIOLOGICAL MARKERS; CELL DEGRANULATION; FLOW CYTOMETRY; HUMANS; INFANT; INFANT, NEWBORN; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE;

EID: 77956305107     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2010.08289.x     Document Type: Letter

References (10)

1. Arceci, R.J. (2008) When T cells and macrophages do not talk: the hemophagocytic syndromes. Current Opinion in Hematology, 15, 259 267.
2. Betts, M.R., Brenchley, J.M., Price, D.A., De Rosa, S.C., Douek, D.C., Roederer, M. Koup, R.A. (2003) Sensitive and viable identification of antigen-specific CD8+ T cells by a flow cytometric assay for degranulation. Journal of Immunological Methods, 281, 65 78.
3. Bryceson, Y.T., Rudd, E., Zheng, C., Edner, J., Ma, D., Wood, S.M., Bechensteen, A.G., Boelens, J.J., Celkan, T., Farah, R.A., Hultenby, K., Winiarski, J., Roche, P.A., Nordenskjold, M., Henter, J.-I., Long, E.O. Ljunggren, H.-G. (2007) Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. Blood, 110, 1906 1915.
4. Côte, M., Ménager, M.M., Burgess, A., Mahlaoui, N., Picard, C., Schaffner, C., Al-Manjomi, F., Al-Harbi, M., Alangari, A., Le Deist, F., Gennery, A.R., Prince, N., Cariou, A., Nitschke, P., Blank, U., El-Ghazali, G., Ménasché, G., Latour, S., Fischer, A. de Saint Basile, G. (2009) Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. Journal of Clinical Investigations, 119, 3765 3773.
5. Enders, A., Zieger, B., Schwarz, K., Yoshimi, A., Speckmann, C., Knoepfle, E.M., Kontny, U., Müller, C., Nurden, A., Rohr, J., Henschen, M., Pannicke, U., Niemeyer, C., Nurden, P. Ehl, S. (2006) Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Blood, 108, 81 87.
6. Henter, J.I., Horne, A., Aricó, M., Egeler, R.M., Filipovich, A.H., Imashuku, S., Ladisch, S., McClain, K., Webb, D., Winiarski, J. Janka, G. (2007) HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatric Blood and Cancer, 48, 124 131.
7. Marcenaro, S., Gallo, F., Martini, S., Santoro, A., Griffiths, G.M., Aricó, M., Moretta, L. Pende, D. (2006) Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease. Blood, 108, 2316 2323.
8. Penack, O., Gentilini, C., Fischer, L., Asemissen, A.M., Scheibenbogen, C., Thiel, E. Uharek, L. (2005) CD56dimCD16neg cells are responsible for natural cytotoxicity against tumor targets. Leukemia, 19, 835 840.
9. Rigaud, S., Fondanèche, M.C., Lambert, N., Pasquier, B., Mateo, V., Soulas, P., Galicier, L., Le Deist, F., Rieux-Laucat, F., Revy, P., Fischer, A., de Saint Basile, G. Latour, S. (2006) XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature, 444, 110 114.
10. zur Stadt, U., Rohr, J., Seifert, W., Koch, F., Grieve, S., Pagel, J., Strauss, J., Kasper, B., Nürnberg, G., Becker, C., Maul-Pavicic, A., Beutel, K., Janka, G., Griffiths, G., Ehl, S. Hennies, H.C. (2009) Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. American Journal of Human Genetics, 85, 482 492.