Identification of new Fas mutations in a patient with autoimmune lymphoproliferative syndrome (ALPS) and eosinophilia

Blood Cells, Molecules, and Diseases

Volumn 25, Issue 4, 1999, Pages 227-238

  Aspinall, A I ^a   Pinto, A ^a   Auer, I A ^a   Bridges, P ^a   Luider, J ^a   Dimnik, L ^a   Patel, K D ^a   Jorgenson, K ^a   Woodman, R C ^a  

^a UNIVERSITY OF CALGARY   (Canada)

Author keywords

ALPS; Apoptosis; Eosinophilia; Fas

Indexed keywords

FAS ANTIGEN; GAMMA INTERFERON;

AMINO ACID SEQUENCE; APOPTOSIS; ARTICLE; AUTOIMMUNE DISEASE; CLINICAL FEATURE; CONTROLLED STUDY; EOSINOPHILIA; GENE MUTATION; HUMAN; LYMPHOCYTE ACTIVATION; LYMPHOCYTOSIS; LYMPHOPROLIFERATIVE DISEASE; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; T LYMPHOCYTE SUBPOPULATION;

EID: 0032712398     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.1999.0248     Document Type: Article

References (31)

1. AJ Infante HA Britton T DeNapoli The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis J Pediatr 133 1998 629 633
2. GH Fisher FJ Rosenberg SE Straus Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome Cell 81 1995 935 946
3. MS Lim SE Straus JK Dale Pathological findings in human autoimmune lymphoproliferative syndrome Am J Pathol 153 1998 1541 1550
4. J Drappa AK Vaishnaw KE Sullivan JL Chu KB Elkon Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity N. Engl J Med 335 1996 1643 1649
5. F Rieux-Laucat F Le Deist C Hivroz Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity Science 268 1995 1347 1349
6. A Bettinardi D Brugnoni E Quiros-Roldan Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis Blood 89 1997 902 909
7. HU Simon S Yousefi CC Dommann-Scherrer Expansion of cytokine-producing CD4-CD8- T cells associated with abnormal Fas expression and hypereosinophilia J Exp Med 183 1996 1071 1082
8. BJ Sleight VS Prasad C DeLaat Correction of autoimmune lymphoproliferative syndrome by bone marrow transplantation Bone Marrow Transplant 22 1998 375 380
9. Y Kasahara T Wada Y Niida Novel Fas (CD95/APO-1) mutations in infants with a lymphoproliferative disorder Int Immunol 10 1998 195 202
10. U Dianzani M Bragardo D DiFranco Deficiency of the Fas apoptosis pathway without Fas gene mutations in pediatric patients with autoimmunity/lymphoproliferation Blood 89 1997 2871 2879
11. MJ Lenardo Fas and the Art of Lymphocyte Maintenance J Exp Med 183 1996 721 724
12. M Rouleau B Mollereau A Bernard Mitogenic CD2 monoclonal antibody pairs predispose peripheral T cells to undergo apoptosis on interaction with a third CD2 monoclonal antibody J Immunol 152 1994 4861 4872
13. KD Patel Eosinophil tethering to interleukin-4-activated endothelial cells requires both P-selectin and vascular cell adhesion molecule-1 Blood 92 1998 3904 3911
14. W Luttmann A Opfer E Dauer Differential regulation of CD95 (Fas/APO-1) expression in human blood eosinophils Eur J Immunol 28 1998 2057 2065
15. C Pepper A Thomas H Tucker T Hoy P Bentley Flow cytometric assessment of three different methods for the measurement of in vitro apoptosis Leuk Res 22 1998 439 444
16. C Zhang Z Ao A Seth SF Schlossman A mitochondrial membrane protein defined by a novel monoclonal antibody is preferentially detected in apoptotic cells J Immunol 157 1996 3980 3987
17. PY Chou GD Fasman Prediction of the secondary structure of proteins from their amino acid sequence Adv Enzymol 47 1978 45 148
18. J Garnier DJ Osguthorpe B Robson Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins J Mol Biol 120 1978 97 120
19. N Itoh S Nagata A novel protein domain required for apoptosis. Mutational analysis of human Fas antigen J Biol Chem 268 1993 10932 10937
20. AN Theofilopoulos FJ Dixon Murine models of systemic lupus erythematosus Adv Immunol 37 1968 269 305
21. DA Martin B Combadiere F Hornung Molecular genetic studies in lymphocyte apoptosis and human autoimmunity Novartis Found Symp 215 1998 73 82
22. AM Chinnaiyan K O'Rourke M Tewari VM Dixit FADD, a novel death domain-containing protein, interacts with the death domain of Fas and initiates apoptosis Cell 81 1995 502 512
23. IJ Fuss W Strober JK Dale Characteristic T helper 2 T cell cytokine abnormalities in autoimmune lymphoproliferative syndrome, a syndrome marked by defective apoptosis and humoral autoimmunity J Immunol 158 1997 1912 1918
24. F Ramsdell MS Seaman RE Miller KS Picha MK Kennedy DH Lynch Differential ability of Th1 and Th2 T cells to express Fas ligand and to undergo activation-induced cell death Int Immunol 6 1994 1545 1553
25. X Zhang T Brunner L Carter Unequal death in T helper cell (Th)1 and Th2 effectors: Th1, but not Th2, effectors undergo rapid Fas/FasL-mediated apoptosis J Exp Med 185 1997 1837 1849
26. D Traver K Akashi IL Weissman E Lagasse Mice defective in two apoptosis pathways in the myeloid lineage develop acute myeloblastic leukemia Immunity 9 1998 47 57
27. J Wu J Wilson J He L Xiang PH Schur JD Mountz Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease J Clin Invest 98 1996 1107 1113
28. C Giordano G Stassi MR De Potential involvement of Fas and its ligand in the pathogenesis of Hashimoto's thyroiditis Science 275 1997 960 963
29. TH Landowski N Qu I Buyuksal JS Painter WS Dalton Mutations in the Fas antigen in patients with multiple myeloma Blood 90 1997 4266 4270
30. C Beltinger E Kurz T Bohler M Schrappe WD Ludwig KM Debatin CD95 (APO-1/Fas) mutations in childhood T-lineage acute lymphoblastic leukemia Blood 91 1998 3943 3951
31. K Gronbaek PT Straten E Ralfkiaer Somatic Fas mutations in non-Hodgkin's lymphoma: association with extranodal disease and autoimmunity Blood 92 1998 3018 3024