Autoimmunity in severe combined immunodeficiency (SCID): Lessons from patients and experimental models

Journal of Clinical Immunology

Volumn 28, Issue SUPPL. 1, 2008, Pages

  Milner, Joshua D ^a   Fasth, Anders ^b   Etzioni, Amos ^c  

^a NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^b QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^c TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

AIRE; Autoimmunity; FoxP3; Immunodeficiency; Omenn syndrome; Tolerance

Indexed keywords

AUTOIMMUNE REGULATOR PROTEIN; INTERLEUKIN 15; INTERLEUKIN 7; RAG1 PROTEIN; RAG2 PROTEIN; TRANSCRIPTION FACTOR FOXP3;

AUTOIMMUNITY; CELL COUNT; CELL INFILTRATION; CELL POPULATION; CELL PROLIFERATION; CONFERENCE PAPER; GENE MUTATION; HUMAN; IMMUNE DYSREGULATION; IMMUNE RECONSTITUTION INFLAMMATORY SYNDROME; IMMUNOLOGICAL TOLERANCE; LYMPHOCYTOPENIA; NONHUMAN; OMENN SYNDROME; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; REGULATORY T LYMPHOCYTE; SEVERE COMBINED IMMUNODEFICIENCY; T LYMPHOCYTE;

ANIMALS; AUTOIMMUNITY; DISEASE MODELS, ANIMAL; DNA-BINDING PROTEINS; FORKHEAD TRANSCRIPTION FACTORS; HOMEODOMAIN PROTEINS; HUMANS; IMMUNE TOLERANCE; IMMUNOCOMPROMISED HOST; MICE; NUCLEAR PROTEINS; SEVERE COMBINED IMMUNODEFICIENCY; T-LYMPHOCYTES, REGULATORY; TRANSCRIPTION FACTORS;

EID: 44449162969     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-007-9159-y     Document Type: Conference Paper

References (20)

1. Palmer K, Green TD, Roberts JL, et al. Unusual clinical and immunological manifestations of transplacentally acquired maternal T cells in severe combined immunodeficiency. J Allerg Clin Immunol 2007;120:423-8.
2. Elhasid R, Bergman R, Etzioni A. Autoimmunity in severe combined immunodeficiency. Blood 2002;100:2677-8.
3. Honig M, Schwarz K. Omenn syndrome: a lack of tolerance on the background of deficient lymphocyte development and maturation. Curr Opin Rheum 2006;268:383-8.
4. Villa A, Santagata S, Bozzi F, et al. Partial V(D) J recombination activity leads to Omenn Syndrome. Cell 1998;93:885-96.
5. Ege M, Ma Y, Manfras M, et al. Omenn syndrome due to ARTEMIS mutation. Blood 2005;105:4179-86.
6. Arkwright PD, Abinun M, Cant AJ. Autoimmunity in human primary immunodeficiency diseases. Blood 2002;99:2694-702.
7. Dalal I, Tabori V, Bielorai B, et al. Evolution of T-B-SCID into an Omenn syndrome phenotype following para-influenza 3 virus infection. Clin Immunol 2005;115:70-3.
8. Wong SY, Roth DB. Murine models of omenn syndrome. J Clin Invest 2007;117:1213-6.
9. Gollagos AM, Bevan UJ. Central tolerance: good but imperfect. Immunol Rev 2006;209:290-6.
10. Mathis D, Benoist C. A decade of AIRE. Nat Rev Immunol 2007;7:645-50.
11. Marella U, Poliani PL, Casati A, RUcci R, Frascoli L, Gougeon ML, et al. A lypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome. J Clin Invest 2007;117:1260-9.
12. Cavadini P, Vermi W, Faccheti F, Fontana S, Magafuchi S, Mazzolari E, et al. AIRE deficiency in thymus of 2 patients with Omenn syndrome. J Clin Invest 2005;115:728-32.
13. Notarangelo LD, Gambineri E, Badolato R. Immunodeficiencies with autoimmune consequences. Adv Immunol 2006;89:321-70.
14. Kieper WC, Troy A, Burghardt JT, Ramsey C, Lee JY, Jiang HQ, et al. Recent immune status determines the source of antigens that drive homeostatic T cell expansion. J Immunol 2005;174:3158-63.
15. Brenchley JM, Price DA, Schacker TW, Asher TE, Silvestri G, Rao S, et al. Microbial translocation is a cause of systemic immune activation in chronic HIV infection. Nat Med 2006;12:1365-71.
16. Garrett WS, Lord GM, Punit S, Lugo-Villarino G, Mazmanian SK, Ito S, et al. Communicable ulcerative colitis induced by T-bet deficiency in the innate immune system. Cell 2007;131:33-45.
17. Khiong K, Murakami M, Kitabayashi C, Ueda N, Sawa S, Sakamoto A, et al. Homeostatically proliferating CD4 T cells are involved in the pathogenesis of an Omenn syndrome murine model. J Clin Invest 2007;117:1270-81.
18. Kim JM, Rasmussen JP, Rudensky AY. Regulatory T cells prevent catastrophic autoimmunity throughout the lifespan of mice. Nat Immunol 2007;8:191-7.
19. Milner JD, Ward JM, Keane-Myers A, Paul WE. Lymphopenic mice reconstituted with limited repertoire T cells develop severe, multiorgan, Th2-associated inflammatory disease. Proc Natl Acad Sci U S A 2007;104:576-81.
20. Candotti F, Notarangelo LD, Visconti R, O'Shea J. Molecular aspects of primary immunodeficiencies lessons from cytokines and other signaling pathways. J Clin Invest 2002;109:1261-9.