Thymic Stromal Alterations and Genetic Disorders of Immune System

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Pignata, Claudio ; D’Assante, Roberta ; Sousa, Ana E. (2015)
  • Publisher: Frontiers Media S.A.
  • Journal: Frontiers in Immunology, volume 6 (issn: 1664-3224, eissn: 1664-3224)
  • Related identifiers: doi: 10.3389/fimmu.2015.00081/full, doi: 10.3389/fimmu.2015.00081, pmc: PMC4341118
  • Subject: Editorial | RC581-607 | FOXN1 | APECED | rag defects | APECED; DiGeorge syndrome; FOXN1; Central tolerance; Medullary Thymic Epithelial Cells; RAG defects; Severe Combined Immunodeficiency | central tolerance | severe combined immunodeficiency | Immunologic diseases. Allergy | medullary thymic epithelial cells | Immunology | DiGeorge syndrome

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  • References (13)
    13 references, page 1 of 2

    1. Anderson G, Jenkinson EJ. Lymphostromal interactions in thymic development and function. Nat Rev Immunol (2001) 1:31-40. doi:10.1038/35095500

    2. Romano R, Palamaro L, Fusco A, Giardino G, Gallo V, Del Vecchio L, et al. FOXN1: a master regulator gene of thymic epithelial development program. Front Immunol (2013) 4:187. doi:10.3389/fimmu.2013.00187

    3. Pignata C, Fiore M, Guzzetta V, Castaldo A, Sebastio G, Porta F, et al. Congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs. Am J Med Genet (1996) 65:167-70. doi:10.1002/(SICI) 1096-8628(19961016)65:2<167::AID-AJMG17>3.0.CO;2-O

    4. Corneo B, Moshous D, Güngör T, Wulffraat N, Philippet P, Le Deist FL, et al. Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. Blood (2001) 97:2772-6. doi:10.1182/blood.V97.9.2772

    5. Davies EG. Immunodeficiency in DiGeorge syndrome and options for treating cases with complete athymia. Front Immunol (2013) 4:322. doi:10.3389/fimmu. 2013.00322

    6. Anderson MS, Veneziani ES, Klein L, Chen Z, Berzins SP, Turley SJ, et al. Projection of an immunological self shadow within the thymus by the aire protein. Science (2002) 298:1395-401. doi:10.1126/science.1075958

    7. Derbinski J, Kyewski B. How thymic antigen presenting cells sample the body's self-antigens. Curr Opin Immunol (2010) 22:592-600. doi:10.1016/j.coi.2010. 08.003

    8. Akiyama T, Shinzawa M, Akiyama N. TNF receptor family signaling in the development and functions of medullary thymic epithelial cells. Front Immunol (2012) 3:278. doi:10.3389/fimmu.2012.00278

    9. Matsumoto M, Nishikawa Y, Nishijima H, Morimoto J, Matsumoto M, Mouri Y. Which model better fits the role of aire in the establishment of self-tolerance: the transcription model or the maturation model? Front Immunol (2013) 4:210. doi:10.3389/fimmu.2013.00210

    10. Kisand K, Peterson P. Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome. Ann N Y Acad Sci (2011) 1246:77-91. doi:10.1111/j.1749-6632.2011.06308.x

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