AIRE deficiency in thymus of 2 patients with Omenn syndrome

Journal of Clinical Investigation

Volumn 115, Issue 3, 2005, Pages 728-732

  Cavadini, Patrizia ^a   Vermi, William ^a   Facchetti, Fabio ^a   Fontana, Stefania ^a   Nagafuchi, Seiho ^b   Mazzolari, Evelina ^a   Sediva, Anna ^c   Marrella, Veronica ^d   Villa, Anna ^d   Fischer, Alain ^e   Notarangelo, Luigi D ^a   Badolato, Raffaele ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

^b KYUSHU UNIVERSITY   (Japan)

^c UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^d CNR   (Italy)

^e INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOIMMUNE REGULATOR PROTEIN; CYTOCHROME P450 1A2; FATTY ACID BINDING PROTEIN; KERATIN; LYMPHOTOXIN BETA; MESSENGER RNA;

ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; CASE REPORT; CELL CLONE; CELL MATURATION; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GASTROINTESTINAL SYMPTOM; GENE ACTIVATION; HUMAN; IMMUNE DEFICIENCY; IMMUNOHISTOCHEMISTRY; INFANT; OMENN SYNDROME; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN MANIFESTATION; T LYMPHOCYTE; THYMUS; TISSUE SPECIFICITY; TRANSCRIPTION INITIATION;

ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; FEMALE; GASTROINTESTINAL TRACT; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; LYMPHOTOXIN BETA RECEPTOR; RECEPTORS, TUMOR NECROSIS FACTOR; SKIN; T-LYMPHOCYTES; THYMUS GLAND; TRANSCRIPTION FACTORS;

EID: 20044376279     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI200523087     Document Type: Article

References (31)

1. Omenn, G.S. 1965. Familial reticuloendotheliosis with eosinophilia. N. Engl. J. Med. 273:427-432.
2. Ochs, H.D., Davis, S.D., Mickelson, E., Lerner, K.G., and Wedgwood, R.J. 1974. Combined immunodeficiency and reticuloendotheliosis with eosinophilia. J. Pediatr. 85:463-465.
3. Le Deist, F., et al. 1985. Deficit immunitaire mixte et grave avec hypereosinophilie. Arch. Fr. Pediatr. 42:11-14.
4. Facchetti, F., Blanzuoli, L., Ungari, M., Alebardi, O., and Vermi, W. 1998. Lymph node pathology in primary combined immunodeficiency diseases. Springer Semin. Immunopathol. 19:459-478.
5. Saint-Basile, G., et al. 1991. Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome). J. Clin. Infest. 87:1352-1359.
6. Rieux-Laucat, F., et al. 1998. Highly restricted human T cell repertoire in peripheral blood and tissue-infiltrating lymphocytes in Omenn's syndrome. J. Clin. Invest. 102:312-321.
7. Harville, T.O., Adams, D.M., Howard, T.A., and Ware, R.E. 1997. Oligoclonal expansion of CD45RO+ T lymphocytes in Omenn syndrome. J. Clin. Immunol. 17:322-332.
8. Brooks, E.G., Filipovich, A.H., Padgett, J.W., Mamlock, R., and Goldblum, R.M. 1999. T-cell receptor analysis in Omenn's syndrome: evidence for defects in gene rearrangement and assembly. Blood. 93:242-250.
9. Signorini, S., et al. 1999. Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome. Blood. 94:3468-3478.
10. Schwarz, K., et al. 1996. RAG mutations in human B cell-negative SCID. Science. 274:97-99.
11. Villa, A., et al. 1998. Partial V(D)J recombination activity leads to Omenn syndrome. Cell. 93:885-896.
12. Noordzij, J.G., et al. 2000. N-terminal truncated human RAG1 proteins can direct T-cell receptor but not immunoglobulin gene rearrangements. Blood. 96:203-209.
13. Fischer, A. 2004. Human primary immunodeficiency diseases: a perspective. Nat. Immunol. 5:23-30.
14. Aaltonen, J. 1997. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. The Finnish-German APECED Consortium. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy. Nat. Genet. 17:399-403.
15. Nagamine, K., et al. 1997. Positional cloning of the APECED gene. Nat. Genet. 17:393-398.
16. Rosatelli, M.C., et al. 1998. A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. Hum. Genet. 103:428-434.
17. Zuklys, S., et al. 2000. Normal thymic architecture and negative selection are associated with Aire expression, the gene defective in the autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). J. Immunol. 165:1976-1983.
18. Chin, R.K., et al. 2003. Lymphotoxin pathway directs thymic Aire expression. Nat. Immunol. 4:1121-1127.
19. Heino, M., et al. 2000. RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse. Eur. J. Immunol. 30:1884-1893.
20. Anderson, M.S., et al. 2002. Projection of an immunological self shadow within the thymus by the aire protein. Science. 298:1395-1401.
21. Liston, A., Lesage, S., Wilson, J., Peltonen, L., and Goodnow, C.C. 2003. Aire regulates negative selection of organ-specific T cells. Nat. Immunol. 4:350-354.
22. Kogawa, K., et al. 2002. Expression of AIRE gene in peripheral monocyte/dendritic cell lineage. Immunol. Lett. 80:195-198.
23. Bjorses, P., et al. 2000. Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am. J. Hum. Genet. 66:378-392.
24. Heino, M., et al. 1999. Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla. Biochem. Biophys. Res. Commun. 257:821-825.
25. Boehm, T., Scheu, S., Pfeffer, K., and Bleul, C.C. 2003. Thymic medullary epithelial cell differentiation, thymocyte emigration, and the control of autoimmunity require lympho-epithelial cross talk via LTbetaR. J. Exp. Med. 198:757-769.
26. Villa, A., et al. 2001. V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. Blood. 97:81-88.
27. Liston, A., et al. 2004. Gene dosage-limiting role of Aire in thymic expression, clonal deletion, and organ-specific autoimmunity. J. Exp. Med. 200:1015-1026.
28. + regulatory T cells: thymus or periphery. J. Clin. Invest. 112:1310-1312. doi:10.1172/ JCI200320274.
29. Sharfe, N., Dadi, H.K., Shahar, M., and Roifman, C.M. 1997. Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor. Proc. Natl. Acad. Sci. U. S. A. 94:3168-3171.
30. Schmalstieg, F.C., et al. 1995. Missense mutation in exon 7 of the common γ chain gene causes a moderate form of X-linked combined immunodeficiency. J. Clin. Invest. 95:1169-1173.
31. Santagata, S., et al. 2000. N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains. Proc. Natl. Acad. Sci. U. S. A. 97:14572-14577.