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The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients.
Campagnoli MF, Garbarini L, Quarello P, Garelli E, Carando A, Baravalle V, Doria A, Biava A, Chiocchetti A, Rosolen A, Dufour C, Dianzani U, Ramenghi U. Campagnoli MF, et al. Haematologica. 2006 Apr;91(4):538-41. Epub 2006 Mar 15. Haematologica. 2006. PMID: 16537120
Autoimmune lymphoproliferative disorders, including autoimmune lymphoproliferative syndrome (ALPS) and Dianzani autoimmune lymphoproliferative disease (DALD), are inherited defects of the Fas apoptotic pathway characterized by lymphoid accumulat …
Autoimmune lymphoproliferative disorders, including autoimmune lymphoproliferative syndrome (ALPS) and Dianzani autoimmune …
IL-17 protects T cells from apoptosis and contributes to development of ALPS-like phenotypes.
Boggio E, Clemente N, Mondino A, Cappellano G, Orilieri E, Gigliotti CL, Toth E, Ramenghi U, Dianzani U, Chiocchetti A. Boggio E, et al. Blood. 2014 Feb 20;123(8):1178-86. doi: 10.1182/blood-2013-07-518167. Epub 2013 Dec 20. Blood. 2014. PMID: 24363402 Free article.
In autoimmune/lymphoproliferative syndrome (ALPS), defective Fas death receptor function causes lymphadenomegaly/splenomegaly, the expansion of T-cell receptor alphabeta(+) CD4/CD8 double-negative T cells, and frequent development of hematologic autoimmunity. Dianzani a …
In autoimmune/lymphoproliferative syndrome (ALPS), defective Fas death receptor function causes lymphadenomegaly/splenomegaly, the expansion …
Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome.
Aricò M, Boggio E, Cetica V, Melensi M, Orilieri E, Clemente N, Cappellano G, Buttini S, Soluri MF, Comi C, Dufour C, Pende D, Dianzani I, Ellis SR, Pagliano S, Marcenaro S, Ramenghi U, Chiocchetti A, Dianzani U. Aricò M, et al. PLoS One. 2013 Jul 1;8(7):e68045. doi: 10.1371/journal.pone.0068045. Print 2013. PLoS One. 2013. PMID: 23840885 Free PMC article.
Autoimmune lymphoproliferative syndrome (ALPS) is caused by genetic defects decreasing Fas function and is characterized by lymphadenopathy/splenomegaly and expansion of CD4/CD8 double-negative T cells. This latter expansion is absent in the ALPS variant named Dianzani …
Autoimmune lymphoproliferative syndrome (ALPS) is caused by genetic defects decreasing Fas function and is characterized by lymphadenopathy/ …
Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function.
Clementi R, Chiocchetti A, Cappellano G, Cerutti E, Ferretti M, Orilieri E, Dianzani I, Ferrarini M, Bregni M, Danesino C, Bozzi V, Putti MC, Cerutti F, Cometa A, Locatelli F, Maccario R, Ramenghi U, Dianzani U. Clementi R, et al. Blood. 2006 Nov 1;108(9):3079-84. doi: 10.1182/blood-2006-02-001412. Epub 2006 May 23. Blood. 2006. PMID: 16720836 Free article.
Mutations decreasing function of the Fas death receptor cause the autoimmune lymphoproliferative syndrome (ALPS) with autoimmune manifestations, spleen/lymph node enlargement, and expansion of CD4/CD8-negative T cells. Dianzani Autoimmune Lymphoproliferative …
Mutations decreasing function of the Fas death receptor cause the autoimmune lymphoproliferative syndrome (ALPS) with autoimmune manifestati …
The -346T polymorphism of the SH2D1A gene is a risk factor for development of autoimmunity/lymphoproliferation in males with defective Fas function.
Boggio E, Melensi M, Bocca S, Chiocchetti A, Comi C, Clemente N, Orilieri E, Soluri MF, D'Alfonso S, Mechelli R, Gentile G, Poggi A, Salvetti M, Ramenghi U, Dianzani U. Boggio E, et al. Hum Immunol. 2012 May;73(5):585-92. doi: 10.1016/j.humimm.2012.02.025. Epub 2012 Mar 7. Hum Immunol. 2012. PMID: 22425739
Inherited defects decreasing function of the Fas death receptor cause autoimmune lymphoproliferative syndrome (ALPS) and its variant Dianzani autoimmune lymphoproliferative disease (DALD). Since a deleterious mutation of the SH2D1A gene protects …
Inherited defects decreasing function of the Fas death receptor cause autoimmune lymphoproliferative syndrome (ALPS) and its variant Dian …
High levels of osteopontin associated with polymorphisms in its gene are a risk factor for development of autoimmunity/lymphoproliferation.
Chiocchetti A, Indelicato M, Bensi T, Mesturini R, Giordano M, Sametti S, Castelli L, Bottarel F, Mazzarino MC, Garbarini L, Giacopelli F, Valesini G, Santoro C, Dianzani I, Ramenghi U, Dianzani U. Chiocchetti A, et al. Blood. 2004 Feb 15;103(4):1376-82. doi: 10.1182/blood-2003-05-1748. Epub 2003 Oct 30. Blood. 2004. PMID: 14592838 Free article.
The autoimmune/lymphoproliferative syndrome (ALPS) displays defective function of Fas, autoimmunities, lymphadenopathy/splenomegaly, and expansion of CD4/CD8 double-negative (DN) T cells. Dianzani autoimmune/lymphoproliferative disease (DALD) is …
The autoimmune/lymphoproliferative syndrome (ALPS) displays defective function of Fas, autoimmunities, lymphadenopathy/splenomegaly, and exp …
Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant.
Berio A, Mangiante G, Piazzi A. Berio A, et al. Pediatr Med Chir. 2014 Dec 30;36(5-6):100. doi: 10.4081/pmc.2014.100. Pediatr Med Chir. 2014. PMID: 25669891 Free article.
The paper reported on a case of severe myoclonic epilepsy of infancy (SMEI) associated with a probable autoimmune lymphoproliferative syndrome variant (Dianzani autoimmune lymphoproliferative disease) (DALD). A male patient with typical features …
The paper reported on a case of severe myoclonic epilepsy of infancy (SMEI) associated with a probable autoimmune lymphoproliferative syndro …