Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations

Clinical Immunology

Volumn 132, Issue 1, 2009, Pages 116-123

  Marsh, Rebecca A ^a   Villanueva, Joyce ^a   Kim, Mi Ok ^a   Zhang, Kejian ^a   Marmer, Dan ^a   Risma, Kimberly A ^a   Jordan, Michael B ^a   Bleesing, Jack J ^a   Filipovich, Alexandra H ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

BIRC4; iNKT cells; Invariant natural killer T cells; X linked Inhibitor of Apoptosis; X linked lymphoproliferative disease; XIAP; XLP; XLP2

Indexed keywords

DEXAMETHASONE; PREDNISONE; TACROLIMUS; X LINKED INHIBITOR OF APOPTOSIS;

ADOLESCENT; ADULT; AGED; ARTICLE; CELL MATURATION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; INFANT; LIVER GRAFT REJECTION; LYMPHOCYTE SUBPOPULATION; LYMPHOPROLIFERATIVE DISEASE; MACROPHAGE ACTIVATION SYNDROME; MALE; NATURAL KILLER T CELL; PEDIATRICS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECURRENT DISEASE; SCHOOL CHILD; X CHROMOSOME LINKED DISORDER; X LINKED LYMPHOPROLIFERATIVE DISEASE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FLOW CYTOMETRY; HUMANS; LYMPHOPROLIFERATIVE DISORDERS; MUTATION; NATURAL KILLER T-CELLS; X-LINKED INHIBITOR OF APOPTOSIS PROTEIN;

EID: 67349171083     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2009.03.517     Document Type: Article

References (9)

1. Godfrey D.I., MacDonald H.R., Kronenberg M., Smyth M.J., and Van Kaer L. NKT cells: what's in a name?. Nat. Rev. Immunol. 4 (2004) 231-237
2. Godfrey D.I., and Kronenberg M. Going both ways: immune regulation via CD1d-dependent NKT cells. J. Clin. Invest. 114 (2004) 1379-1388
3. Nichols K.E., Hom J., Gong S.Y., Ganguly A., Ma C.S., Cannons J.L., et al. Regulation of NKT cell development by SAP, the protein defective in XLP. Nat. Med. 11 (2005) 340-345
4. Pasquier B., Yin L., Fondaneche M.C., Relouzat F., Bloch-Queyrat C., Lambert N., et al. Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product. J. Exp. Med. 201 (2005) 695-701
5. Rigaud S., Fondanèche M.C., Lambert N., Pasquier B., Mateo V., Soulas P., et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 444 (2006) 110-114
6. Latour S. Natural killer T cells and X-linked lymphoproliferative syndrome. Curr. Opin. Allergy Clin. Immunol. 7 (2007) 510-514
7. Bauler L.D., Duckett C.S., and O'Riordan M.X. XIAP regulates cytosol-specific immunity to Listeria infection. PLoS Pathog. 4 (2008) e1000142
8. Montoya C.J., Pollard D., Martinson J., Kumari K., Wasserfall C., Mulder C.B., et al. Characterization of human invariant natural killer T subsets in health and disease using a novel invariant natural killer T cell-clonotypic monoclonal antibody 6B11. Immunology 122 (2007) 1-14
9. Liu Y., Goff R.D., Zhou D., Mattner J., Sullivan B.A., Khurana A., et al. A modified α-galactosyl ceramide for staining and stimulating natural killer T cells. J. Immunol. Methods 312 (2006) 34-39