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U Ramenghi

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Articles 62
Citations 503
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Recent Articles
1.
Guarina A, Farruggia P, Mariani E, Saracco P, Barone A, Onofrillo D, et al.
Blood Cells Mol Dis . 2024 Jun; 108():102860. PMID: 38889660
Acquired aplastic anemia (AA) is a rare heterogeneous disorder characterized by pancytopenia and hypoplastic bone marrow. The incidence is 2-3 per million population per year in the Western world, but...
2.
Clemente N, Boggio E, Gigliotti C, Orilieri E, Cappellano G, Toth E, et al.
Genes Immun . 2015 Jan; 16(2):151-61. PMID: 25569260
Lymphocyte apoptosis is mainly induced by either death receptor-dependent activation of caspase-8 or mitochondria-dependent activation of caspase-9. Mutations in caspase-8 lead to autoimmunity/lymphoproliferation and immunodeficiency. This work describes a heterozygous...
3.
Hasegawa D, Bugarin C, Giordan M, Bresolin S, Longoni D, Micalizzi C, et al.
Blood Cancer J . 2013 Nov; 3:e160. PMID: 24241400
To diagnose juvenile myelomonocytic leukemia (JMML) is sometimes challenging, because around 10% of patients lack molecular abnormalities affecting Ras-MAPK (mitogen-activated protein kinase) pathway and other diseases such as cytomegalovirus infection...
4.
Cistaro A, Paze F, Durando S, Cogoni M, Faletti R, Vesco S, et al.
Rev Esp Med Nucl Imagen Mol . 2013 Jul; 33(2):99-102. PMID: 23845452
A young patient with undefined autoimmune lymphoproliferative syndrome (ALPS-U) and low back pain underwent a CT and MRI study that showed enhancing vertebral lesions, some pulmonary nodules and diffuse latero-cervical...
5.
Campagnoli M, Pucci A, Garelli E, Carando A, Defilippi C, Lala R, et al.
J Clin Pathol . 2006 Mar; 59(4):440-2. PMID: 16567474
Background: Familial tumoral calcinosis (FTC) is a rare autosomal recessive disease characterised by the development of multiple calcified masses in periarticular soft tissues; GALNT3 gene mutations have recently been described...
6.
Svahn J, Capasso M, Lanciotti M, Marrone A, Haupt R, Bacigalupo A, et al.
Bone Marrow Transplant . 2005 Apr; 35 Suppl 1:S89-92. PMID: 15812539
Aplastic anemia (AA) is a rare disease with a major autoimmune pathogenetic component. CTLA4 is a T-lymphocyte surface molecule involved in the maintenance of immune tolerance. Some polymorphisms associated with...
7.
Bona G, Defranco S, Chiocchetti A, Indelicato M, Biava A, Difranco D, et al.
Clin Exp Immunol . 2003 Aug; 133(3):430-7. PMID: 12930371
Triggering of the Fas receptor induces T cell apoptosis and is involved in shutting-off the immune response. Inherited defects impairing Fas function cause the autoimmune lymphoproliferative syndrome, and may play...
8.
Pittoni V, Sorice M, Circella A, Cangemi R, Conti L, Ramenghi U, et al.
Clin Exp Rheumatol . 2003 Jul; 21(3):377-85. PMID: 12846062
Objective: A human lymphoproliferative syndrome characterized by a defect of the Fas-mediated apoptosis pathway in the absence of a fas gene mutation (Autoimmune Lymphoproliferative Disease) has recently been described and...
9.
Girelli D, Bozzini C, Zecchina G, Tinazzi E, Bosio S, Piperno A, et al.
Br J Haematol . 2001 Nov; 115(2):334-40. PMID: 11703332
Hereditary hyperferritinaemia-cataract syndrome (HHCS) is an autosomal dominant disease caused by mutations in the iron responsive element (IRE) of the l-ferritin gene. Despite the elucidation of the genetic basis, the...
10.
Timeus F, Ricotti E, Crescenzio N, Garelli E, Doria A, Spinelli M, et al.
Lab Invest . 2001 Jul; 81(7):1025-37. PMID: 11454991
Flt-3 ligand (FL) is a cytokine that promotes the survival, proliferation, and differentiation of hematopoietic progenitors in synergy with other growth factors, such as stem cell factor. Previously we have...