FAS-mediated apoptosis impairment in patients with ALPS/ALPS-like phenotype carrying variants on CASP10 gene.
apoptosis
autoimmune diseases
autoimmune lymphoproliferative syndrome
caspases
immune-dysregulation
Journal
British journal of haematology
ISSN: 1365-2141
Titre abrégé: Br J Haematol
Pays: England
ID NLM: 0372544
Informations de publication
Date de publication:
11 2019
11 2019
Historique:
received:
17
04
2019
accepted:
21
05
2019
pubmed:
17
7
2019
medline:
9
7
2020
entrez:
17
7
2019
Statut:
ppublish
Résumé
Autoimmune lymphoproliferative syndrome (ALPS) is a congenital disorder that results in an apoptosis impairment of lymphocytes, leading to chronic lymphoproliferation and autoimmunity, mainly autoimmune cytopenias. FAS gene defects are often responsible for the disease, the phenotype of which can vary from asymptomatic/mild forms to severe disease. More rarely, defects are associated to other genes involved in apoptosis pathway, such as CASP10. Few data are available on CASP10-mutated patients. To date, two CASP10 mutations have been recognized as pathogenic (I406L and L258F) and others have been reported with controversial result on their pathogenicity (V410l, Y446C) or are known to be polymorphic variants (L522l). In this study, we evaluated apoptosis function in patients with an ALPS/ALPS-like phenotype carrying CASP10 variants. Molecular findings were obtained by next generation sequencing analysis of genes involved in immune dysregulation syndromes. Functional studies were performed after inducing apoptosis by FAS-ligand/TRIAL stimulation and analysing cell death and the function of CASP10, CASP8 and PARP proteins. We identified 6 patients with an ALPS (n = 2) or ALPS-like (n = 4) phenotype, carrying I406L (n = 1),V410l (n = 2),Y446C (n = 1) heterozygous CASP10 variants or the L522l polymorphisms (n = 2) associated with another polymorphic homozygote variant on CASP8 or a compound heterozygous mutation on TNFRSF13C. Apoptosis was impaired in all patients showing that such variants may play a role in the development of clinical phenotype.
Substances chimiques
FASLG protein, human
0
Fas Ligand Protein
0
fas Receptor
0
CASP8 protein, human
EC 3.4.22.-
Caspase 10
EC 3.4.22.-
Caspase 8
EC 3.4.22.-
CASP10 protein, human
EC 3.4.22.63
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
502-508Informations de copyright
© 2019 British Society for Haematology and John Wiley & Sons Ltd.
Références
Campagnoli, M.F., Garbarini, L., Quarello, P., Garelli, E., Carando, A., Baravalle, V., Doria, A., Biava, A., Chiocchetti, A., Rosolen, A., Dufour, C., Dianzani, U. & Ramenghi, U. (2006) The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients. Haematologica, 91, 538-541.
Cerutti, E., Campagnoli, M.F., Ferretti, M., Garelli, E., Crescenzio, N., Rosolen, A., Chiocchetti, A., Lenardo, M.J., Ramenghi, U. & Dianzani, U. (2007) Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome. BMC Immunology, 8, 28.
Del-Rey, M., Ruiz-Contreras, J. & Allende, L.M. (2006) A homozygous fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome. Blood, 108, 1306-1312.
Dianzani, U., Bragardo, M., DiFranco, D., Alliaudi, C., Scagni, P., Buonfiglio, D., Redoglia, V., Bonissoni, S., Correra, A., Dianzani, I. & Ramenghi, U. (1997) Deficiency of the Fas apoptosis pathway without Fas gene mutations in pediatric patients with autoimmunity/lymphoproliferation. Blood, 15, 2871-2879.
Fischer, U., Stroh, C. & Schulze-Osthoff, K. (2006) Unique and overlapping substrate specificities of caspase-8 and caspase-10. Oncogene, 25, 152-159.
Grønbaek, K., Dalby, T., Zeuthen, J., Ralfkiaer, E. & Guidberg, P. (2000) The V410I (G1228A) variant of the caspase-10 gene is a common polymorphism of the Danish population. Blood, 95, 2184-218.
Holzelova, E., Vonarbourg, C., Stolzenberg, M.C., Arkwright, P.D., Selz, F., Prieur, A.M., Blanche, S., Bartunkova, J., Vilmer, E., Fischer, A., Le Deist, F. & Rieux-Laucat, F. (2004) Autoimmune lymphoproliferative syndrome with somatic Fas mutations. The new England Journal of Medecine, 351, 1409-1418.
Hu, Z., Li, C., Chen, K., Wang, L.E., Sturgis, E.M., Spitz, M.R. & Wei, Q. (2008) Single nucleotide polymorphisms in selected apoptotic genes and BPDE-induced apoptotic capacity in apparently normal primary lymphocytes: a genotype-phenotype correlation analysis. Journal of Cancer Epidemiology, 10, 147905.
Hull, K.M., Drewe, E., Aksentijevich, I., Singh, H.K., Wong, K., McDermott, E.M., Dean, J., Powell, R.J. & Kastner, D.L. (2002) The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medicine, 81, 349-368.
Ladogana, S., Maruzzi, M., Samperi, P., Condorelli, A., Casale, M., Giordano, P., Notarangelo, L.D., Farruggia, P., Giona, F., Nocerino, A., Fasoli, S., Casciana, M.L., Miano, M., Tucci, F., Casini, T., Saracco, P., Barcellini, W., Zanella, A., Perrotta, S. & Russo, G. (2018) AIHA Committee of the Associazione Italiana di Ematologia ed Oncologia Pediatrica. Second-line therapy in paediatric warm autoimmune haemolytic anaemia. Guidelines from the Associazione Italiana Onco-Ematologia Pediatrica (AIEOP). Blood Transfusion, 16, 352-357.
Martínez-Feito, A., Melero, J., Mora-Díaz, S., Rodríguez-Vigil, C., Elduayen, R., González-Granado, L.I., Pérez-Méndez, D., Sánchez-Zapardiel, E., Ruiz-García, R., Menchén, M., Díaz-Madroñero, J., Paz-Artal, E., Del Orbe-Barreto, R., Riñón, M. & Allende, L.M. (2016) Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation. Immunobiology, 221, 40-47.
Miano, M. (2016) How I manage Evans syndrome and AIHA cases in children. British Journal of Haematology, 172, 524-534.
Miano, M., Poggi, V., Banov, L., Fioredda, F., Micalizzi, C., Svahn, J., Montobbio, G., Gallicola, F., Molinari, A.C., Parasole, R., Petruzziello, F., Fischer, A., Calvillo, M. & Dufour, C. (2014a) Sirolimus as maintenance treatment in an infant with life-threatening multiresistant pure red cell anemia/autoimmune hemolytic anemia. Journal of Pediatric Hematology/Oncology, 36, e145-e148.
Miano, M., Calvillo, M., Palmisani, E., Fioredda, F., Micalizzi, C., Svahn, J., Banov, L., Russo, G., Lanza, T. & Dufour, C. (2014b) Sirolimus for the treatment of multi-resistant autoimmune haemolytic anaemia in children. British Journal of Haematology, 167, 571-574.
Miano, M., Scalzone, M., Perri, K., Palmisani, E., Caviglia, I., Micalizzi, C., Svahn, J., Calvillo, M., Banov, L., Terranova, P., Lanza, T., Dufour, C. & Fioredda, F. (2015) Mycophenolate mofetil and sirolimus as second or further line treatment in children with chronic refractory primary or secondary autoimmune cytopenias: a single centre experience. British Journal of Haematology, 171, 247-253.
Miano, M., Ramenghi, U., Russo, G., Rubert, L., Barone, A., Tucci, F., Farruggia, P., Petrone, A., Mondino, A., Lo, Valvo L., Crescenzio, N., Bellia, F., Olivieri, I., Palmisani, E., Caviglia, I., Dufour, C. & Fioredda, F. (2016) Mycophenolate mofetil for the treatment of children with immune thrombocytopenia and Evans syndrome. A retrospective data review from the Italian association of paediatric haematology/oncology. British Journal of Haematology, 175, 490-495.
Miano, M., Rotulo, G.A., Palmisani, E., Giaimo, M., Fioredda, F., Pierri, F., Pezzulla, A., Licciardello, M., Terranova, P., Lanza, T., Cappelli, E., Maggiore, R., Calvillo, M., Micalizzi, C., Russo, G. & Dufour, C. (2018) Sirolimus as a rescue therapy in children with immune thrombocytopenia refractory to mycophenolate mofetil. American Journal of Hematology., 93, e175-e177.
Neven, B., Magerus-Chatinet, A., Florkin, B. & Rieux-Laucat, F. (2011) A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation. Blood, 118, 4798-4807.
Oliveira, J.B., Bleesing, J.J. & Rao, V.K. (2010) Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International workshop. Blood, 116, e35-e40.
Palmisani, E., Miano, M., Micalizzi, C., Calvillo, M., Pierri, F., Terranova, P., Lanza, T., Lanciotti, M., Riccardi, F., Todiere, A., Zanardi, S., Caviglia, I., Dufour, C. & Fioredda, F. (2019) Clinical features and therapeutic challenges of cytopenias belonging to ALPS and ALPS-related (ARS) phenotype. British Journal of Haematology, 184, 861-864.
Ramenghi, U., Bonissoni, S., Migliaretti, G., DeFranco, S., Bottarel, F., Gambaruto, C., DiFranco, D., Priori, R., Conti, F., Dianzani, I., Valesini, G., Merletti, F. & Dianzani, U. (2000) Deficiency of the Fas apoptosis pathway without Fas gene mutations is a familial trait predisposing to development of autoimmune diseases and cancer. Blood, 95, 3176-3182.
Rao, V.K., Price, S., Similuk, M., Niemela, J., Milner, J.D. & Rosenzweig, S. (2016) Clinical spectrum of Autoimmune Lymphoproliferative Syndrome associated with Caspase 10 mutations (ALPS-CASP10). Blood, 128, 1335.
Rieux-Laucat, F., Le Deist, F., Hivroz, C., Roberts, I.A., Debatin, K.M., Fischer, A. & De Villartay, J.P. (1995) Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science, 268, 1347-1349.
Tripodi, S.I., Mazza, C., Moratto, D., Ramenghi, U., Caorsi, R., Gattorno, M. & Badolato, R. (2016) Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation. Immunology Letters, 177, 22-24.
Wang, J., Zheng, L. & Lenardo, M.J. (1999) Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. Cell, 98, 47-58.
Zhu, S., Hsu, A.P., Vacek, M.M., Zheng, L., Schäffer, A.A., Dale, J.K., Davis, J., Fischer, R.E., Straus, S.E., Boruchov, D., Saulsbury, F.T., Lenardo, M.J. & Puck, J.M. (2006) Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. Human Genetics, 119, 284-294.
Zhu, S., Jin, J., Gokhale, S., Lu, A.M., Shan, H., Feng, J. & Xie, P. (2018) Genetic alterations of TRAF proteins in human cancers. Frontiers in Immunology, 20, 9-2111.