Genetically determined lymphopenia and autoimmune manifestations.
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.
Villa
Anna
A
Istituto Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, San Raffaele Telethon Institute for Gene Therapy, Milan, Italy. anna.villa@itb.cnr.it
Marrella
Veronica
V
Rucci
Francesca
F
Notarangelo
Luigi D
LD
D000818:Animals; D001327:Autoimmune Diseases / Q000235:genetics* / Q000276:immunology*; D003873:Dermatitis, Exfoliative / Q000235:genetics / Q000276:immunology; D015329:Gene Rearrangement, T-Lymphocyte; D006801:Humans; D008231:Lymphopenia / Q000235:genetics* / Q000276:immunology*; D051379:Mice; D013577:Syndrome; D013601:T-Lymphocytes / Q000276:immunology