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Genetically determined lymphopenia and autoimmune manifestations

, : Genetically determined lymphopenia and autoimmune manifestations. Current Opinion in Immunology 20(3): 318-324

Hypomorphic defects of V(D)J recombination in humans lead to residual T cell development. In these lymphopenic conditions, homeostatic lymphocyte proliferation occurs, and key mechanisms that normally maintain host tolerance are altered, allowing peripheral expansion of oligoclonal and autoreactive T cells. Recently described murine models support this notion. This review describes human and murine situations, in which genetically determined T and B cell lymphopenia is associated with autoimmune manifestations.


PMID: 18403192

DOI: 10.1016/j.coi.2008.02.001

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