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by Salpietro, V and Dixon, CL and Guo, H and Bello, OD and Vandrovcova, J and Efthymiou, S and Maroofian, R and Heimer, G and Burglen, L and Valence, S and Torti, E and Hacke, M and Rankin, J and Tariq, H and Colin, E and Procaccio, V and Striano, P and Mankad, K and Lieb, A and Chen, S and Pisani, L and Bettencourt, C and Mannikko, R and Manole, A and Brusco, A and Grosso, E and Ferrero, GB and Armstrong-Moron, J and Gueden, S and Bar-Yosef, O and Tzadok, M and Monaghan, KG and Santiago-Sim, T and Person, RE and Cho, MT and Willaert, R and Yoo, Y and Chae, JH and Quan, YT and Wu, HD and Wang, TY and Bernier, RA and Xia, K and Blesson, A and Jain, M and Motazacker, MM and Jaeger, B and Schneider, AL and Boysen, K and Muir, AM and Myers, CT and Gavrilova, RH and Gunderson, L and Schultz-Rogers, L and Klee, EW and Dyment, D and Osmond, M and Parellada, M and Llorente, C and Gonzalez-Penas, J and Carracedo, A and Van Haeringen, A and Ruivenkamp, C and Nava, C and Heron, D and Nardello, R and Iacomino, M and Minetti, C and Skabar, A and Fabretto, A and Chez, M and Tsai, A and Fassi, E and Shinawi, M and Constantino, JN and De Zorzi, R and Fortuna, S and Kok, F and Keren, B and Bonneau, D and Choi, M and Benzeev, B and Zara, F and Mefford, HC and Scheffer, IE and Clayton-Smith, J and Macaya, A and Rothman, JE and Eichler, EE and Kullmann, DM and Houlden, H and Raspall-Chaure, M and Hanna, MG and Bugiardini, E and Hostettler, I and O'Callaghan, B and Khan, A and Cortese, A and O'Connor, E and Yau, WY and ... and SYNAPS Study Grp and SYNAPS Study Group
NATURE COMMUNICATIONS, ISSN 2041-1723, 07/2019, Volume 10, Issue 1, pp. 3094 - 16
Journal Article
Genes and Immunity, ISSN 1466-4879, 03/2015, Volume 16, Issue 2, pp. 151 - 161
Lymphocyte apoptosis is mainly induced by either death receptor-dependent activation of caspase-8 or mitochondria-dependent activation of caspase-9. Mutations... 
DEATH RECEPTORS | CELLS | KAPPA-B ACTIVATION | AUTOIMMUNITY | DISEASE | GENETICS & HEREDITY | FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS | COMMON VARIABLE IMMUNODEFICIENCY | PERFORIN GENE | FAS GENE-MUTATIONS | APOPTOSIS PATHWAY | IMMUNOLOGY | Caspase 9 - genetics | Down-Regulation | Humans | Apoptosis - genetics | Male | Lymphoproliferative Disorders - genetics | Lymphoproliferative Disorders - immunology | Inducible T-Cell Co-Stimulator Protein - biosynthesis | Lymphoproliferative Disorders - metabolism | Caspase 9 - immunology | Apoptosis - immunology | Pedigree | Adolescent | HEK293 Cells | Inducible T-Cell Co-Stimulator Protein - genetics | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - metabolism | Adult | Mutation | Immunologic Deficiency Syndromes - immunology | B-Cell Activation Factor Receptor - biosynthesis | B-Cell Activation Factor Receptor - genetics | Inducible T-Cell Co-Stimulator Protein - immunology | B-Cell Activation Factor Receptor - immunology | Lymphomas | Genetic aspects | Research | Gene mutations | Health aspects | Risk factors | Index Medicus | perforin | CASP9 protein, human | Lymphoproliferative Disorders | major clinical study | TNFRSF13C protein, human, adult | transmembrane activator and CAML interactor | young adult | B cell activating factor receptor | caspase 9 | autoimmune lymphoproliferative syndrome | Immunologic Deficiency Syndromes | enzyme activity | biosynthesis | female | protein expression | immunology | lymphocyte proliferation | lymphoproliferative disease | inducible T cell costimulator | Burkitt lymphoma | human cell | common variable immunodeficiency | heterozygosity | mutation | immunoglobulin deficiency | adolescent | wild type | metabolism | male | Inducible T-Cell Co-Stimulator Protein | enzyme activation | immune deficiency | HEK293 cell line | Article | apoptosis | pedigree, Adolescent | complementary DNA | genetics | priority journal | human | ex vivo study | ICOS protein, human | gene mutation | genetic transfection | in vitro gene transfer | B-Cell Activation Factor Receptor | controlled study | down regulation
Journal Article
Lancet, The, ISSN 0140-6736, 2015, Volume 386, Issue 10004, pp. 1649 - 1658
Journal Article
Blood, ISSN 0006-4971, 02/2014, Volume 123, Issue 8, pp. 1178 - 1186
In autoimmune/lymphoproliferative syndrome (ALPS), defective Fas death receptor function causes lymphadenomegaly/splenomegaly, the expansion of T-cell receptor... 
NERVOUS-SYSTEM | SYSTEMIC-LUPUS-ERYTHEMATOSUS | HELPER 17 CELLS | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME | IFN-GAMMA | AUTOIMMUNITY/LYMPHOPROLIFERATION | PERFORIN GENE | FAS GENE-MUTATIONS | IL-23 | HEMATOLOGY | TH17 CELLS | Interleukin-17 - blood | Autoimmune Lymphoproliferative Syndrome - pathology | Humans | Cells, Cultured | Interleukin-17 - immunology | Child, Preschool | Immunophenotyping | Male | Receptors, Antigen, T-Cell, alpha-beta - immunology | Receptors, Antigen, T-Cell, alpha-beta - genetics | Young Adult | Antibodies, Neutralizing - immunology | Mice, Inbred MRL lpr | Phenotype | Animals | Apoptosis - immunology | T-Lymphocytes - cytology | Autoimmune Lymphoproliferative Syndrome - immunology | Immunization, Passive | Female | T-Lymphocytes - immunology | Mice | Child | Index Medicus | Abridged Index Medicus | cytology | interleukin 17 | in vitro study | protein blood level | chemokine receptor CCR6 | T lymphocyte receptor alpha chain | IL17A protein, human | IL17F protein, human | mouse | autoimmune lymphoproliferative syndrome | Dianzani autoimmune lymphoproliferative disease | immunophenotyping | Receptors, Antigen, T-Cell, alpha-beta | passive immunization | animal model | female | immunology | T-Lymphocytes | preschool child | lymphocyte antigen receptor | human cell | interleukin 17 antibody | animal experiment | article | young adult, Animals | autoimmunity | cell culture | animal tissue | animal | nonhuman | T lymphocyte | Murphy Roths large lymphoproliferative mouse | male | child | T lymphocyte receptor beta chain | unclassified drug | cytokine release | Fas antigen | pathology | Th17 cell | neutralizing antibody, animal cell | apoptosis | T lymphocyte activation | enzyme linked immunosorbent assay | interleukin 17F | genetics | clinical article | priority journal | Interleukin-17 | human | phenotype | Antibodies, Neutralizing | interleukin 17AF | cell death | blood | CD4 antigen | controlled study | survival time
Journal Article
Human Mutation, ISSN 1059-7794, 03/2008, Volume 29, Issue 3, pp. 409 - 417
Journal Article
Journal Article
PloS one, ISSN 1932-6203, 2012, Volume 7, Issue 4, pp. e35986 - e35986
Journal Article
British Journal of Haematology, ISSN 0007-1048, 09/2008, Volume 142, Issue 6, pp. 859 - 876
Journal Article