Publication de 6 numéros par an
ISSN Imprimer: 1040-8401
ISSN En ligne: 2162-6472
Indexed in
Immune Defects in Fanconi Anemia
RÉSUMÉ
Fanconi anemia (FA) is a genetic disorder characterized by sensitivity to DNA cross-linking agents, multiple congenital anomalies, progressive bone marrow failure, and an increased prevalence of malignancy. The nature of chromosomal instability in FA is better understood today than in the past, but the molecular pathogenesis of bone marrow failure in this disease has not been clarified. Although there is documented evidence that FA hematopoietic stem cells (HSC) have inherent defects that reduce their survival, the potential influence of auxiliary cells on the ability of the FA bone marrow microenvironment to maintain and support HSC in unknown. Historically, FA has not been represented as a disease that affects the lymphoid compartment. In this article we review the results of studies that suggest that the FA immune system is dysfunctional and may contribute to the pathogenesis of both FA bone marrow failure and neoplastic disease.
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Justo Graça A., Bitencourt Marco A., Pasquini Ricardo, Castelo-Branco Morgana T.L., Rumjanek Vivian M., Increased IL10 plasmatic levels in Fanconi anemia patients, Cytokine, 64, 2, 2013. Crossref
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Korthof Elisabeth T., Svahn Johanna, de Latour Regis Peffault, Terranova Paola, Moins-Teisserenc Helene, Socié Gérard, Soulier Jean, Kok Marleen, Bredius Robbert G.M., van Tol Maarten, Jol-van der Zijde Els C.M., Pistorio Angela, Corsolini Fabio, Parodi Alessia, Battaglia Florinda, Pistoia Vito, Dufour Carlo, Cappelli Enrico, Immunological profile of Fanconi anemia: A multicentric retrospective analysis of 61 patients, American Journal of Hematology, 88, 6, 2013. Crossref
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Matsui Ken, Giri Neelam, Alter Blanche P., Pinto Ligia A., Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes, British Journal of Haematology, 163, 1, 2013. Crossref
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Baruque G. A., Bitencourt M. A., Pasquini R., Castelo-Branco M. T. L., Llerena J. C., Rumjanek V. M., Bax expression and apoptotic cell death in Fanconi anaemia peripheral blood lymphocytes, Cell Proliferation, 40, 4, 2007. Crossref
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Alter Blanche P., Giri Neelam, Pan Yuanji, Savage Sharon A., Pinto Ligia A., Antibody response to human papillomavirus vaccine in subjects with inherited bone marrow failure syndromes, Vaccine, 32, 10, 2014. Crossref
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Giri Neelam, Alter Blanche P., Penrose Keri, Falk Roni T., Pan Yuanji, Savage Sharon A., Williams Marcus, Kemp Troy J., Pinto Ligia A., Immune status of patients with inherited bone marrow failure syndromes, American Journal of Hematology, 90, 8, 2015. Crossref
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Shabrish Snehal, Kelkar Madhura, Chavan Niranjan, Desai Mukesh, Bargir Umair, Gupta Maya, Mehta Priti, Chichra Akanksha, S Chandrakala, Taur Prasad, Saxena Vinay, Vundinti Babu Rao, Madkaikar Manisha, Natural Killer Cell Degranulation Defect: A Cause for Impaired NK-Cell Cytotoxicity and Hyperinflammation in Fanconi Anemia Patients, Frontiers in Immunology, 10, 2019. Crossref
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Socha Anna, Yang Di, Bulsiewicz Alicja, Yaprianto Kelvin, Kupculak Marian, Liang Chih-Chao, Hadjicharalambous Andreas, Wu Ronghu, Gygi Steven P., Cohn Martin A., WRNIP1 Is Recruited to DNA Interstrand Crosslinks and Promotes Repair, Cell Reports, 32, 1, 2020. Crossref
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