GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes

Clinical Immunology

Volumn 124, Issue 2, 2007, Pages 165-169

  Haq, Iram J ^a   Steinberg, Laura J ^a   Hoenig, Manfred ^b   van der Burg, Mirjam ^c   Villa, Anna ^d   Cant, Andrew J ^a   Middleton, Peter G ^e   Gennery, Andrew R ^a,f  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF ULM   (Germany)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d INSTITUTE OF BIOMEDICAL TECHNOLOGIES   (Italy)

^e Laboratory Sciences ^*  (United Kingdom)

^f NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

Author keywords

GvHD associated cytokine gene polymorphisms; Omenn syndrome; RAG deficient severe combined immunodeficiency

Indexed keywords

CYTOKINE; GAMMA INTERFERON; INTERLEUKIN 4 RECEPTOR; INTERLEUKIN 6; RAG1 PROTEIN; RAG2 PROTEIN; TUMOR NECROSIS FACTOR ALPHA;

ARTICLE; CLINICAL ARTICLE; COMBINED IMMUNODEFICIENCY; CONTROLLED STUDY; DNA POLYMORPHISM; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GRAFT VERSUS HOST REACTION; HUMAN; OMENN SYNDROME; PHENOTYPE; PRIORITY JOURNAL;

B-LYMPHOCYTES; CYTOKINES; DNA-BINDING PROTEINS; GENES, RAG-1; GRAFT VS HOST DISEASE; HOMEODOMAIN PROTEINS; HUMANS; NUCLEAR PROTEINS; POLYMORPHISM, GENETIC; SEVERE COMBINED IMMUNODEFICIENCY; T-LYMPHOCYTES;

EID: 34447333899     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2007.04.013     Document Type: Article

References (20)

1. Fischer A., Le Deist F., Hacein-Bey-Abina S., Andre-Schmutz I., de Saint-Basile G., de Villartay J.P., et al. Severe combined immunodeficiency. A model disease for molecular immunology and therapy. Immunol. Rev. 203 (2005) 98-109
2. Schwarz K., Gauss G.H., Ludwig L., Pannicke U., Li Z., Lindner D., et al. RAG mutations in human B cell-negative SCID. Science 274 (1996) 97-99
3. de Saint-Basile G., Le Deist F., de Villartay J.P., Cerf-Bensussan N., Journet O., Brousse N., et al. Restricted heterogeneity of T lymphocytes in the combined immunodeficiency with hypereosinophilia. J. Clin. Invest. 87 (1991) 1352-1359
4. Appleton A.L., Curtis A., Wilkes J., and Cant A.J. Differentiation of materno-fetal GVHD from Omenn's syndrome in pre-BMT patients with severe combined immunodeficiency. Bone Marrow Transplant. 14 (1994) 157-159
5. Villa A., Santagata S., Bozzi F., Giliani S., Frattini A., Imberti L., et al. Partial V(D)J recombination activity leads to Omenn syndrome. Cell 93 (1998) 885-896
6. Corneo B., Moshous D., Gungor T., Wulffraat N., Philippet P., Le Deist F., 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 97 (2001) 2772-2776
7. Villa A., Sobacchi C., Notarangelo L.D., Bozzi F., Abinun M., Abrahamsen T.G., et al. V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. Blood 97 (2001) 81-88
8. Dickinson A.M., Middleton P.G., Rocha V., Gluckman E., and Holler E. Eurobank members. Genetic polymorphisms predicting the outcome of bone marrow transplants. Br. J. Haematol. 127 (2004) 479-490
9. Pravica V., Perrey C., Stevens A., Lee J.H., and Hutchinson I.V. A single nucleotide polymorphism in the first intron of the human IFN-gamma gene: absolute correlation with a polymorphic CA microsatellite marker of high IFN-gamma production. Hum. Immunol. 61 (2000) 863-866
10. Fraser D.A., Bulat-Kardum L., Knezevic J., Babarovic P., Matakovic-Mileusnic N., Dellacasagrande J., et al. Interferon-gamma receptor-1 gene polymorphism in tuberculosis patients from Croatia. Scand. J. Immunol. 57 (2003) 480-484
11. Udalova I.A., Nedospasov S.A., Webb G.C., Chaplin D.D., and Turetskaya R.L. Highly informative typing of the human TNF locus using six adjacent polymorphic markers. Genomics 16 (1993) 180-186
12. Morse H.R., Olomolaiye O.O., Wood N.A., Keen L.J., and Bidwell J.L. Induced heteroduplex genotyping of TNF-alpha, IL-1beta, IL-6 and IL-10 polymorphisms associated with transcriptional regulation. Cytokine 11 (1999) 789-795
13. Hurme M., and Santtila S. IL-1 receptor antagonist (IL-1Ra) plasma levels are co-ordinately regulated by both IL-1Ra and IL-1beta genes. Eur. J. Immunol. 28 (1998) 2598-2602
14. Walley A.J., and Cookson W.O. Investigation of an interleukin-4 promoter polymorphism for associations with asthma and atopy. J. Med. Genet. 33 (1996) 689-692
15. Kruse S., Japha T., Tedner M., Sparholt S.H., Forster J., Kuehr J., et al. The polymorphisms S503P and Q576R in the interleukin-4 receptor alpha gene are associated with atopy and influence the signal transduction. Immunology 96 (1999) 365-371
16. Juliger S., Bongartz M., Luty A.J., Kremsner P.G., and Kun J.F. Functional analysis of a promoter variant of the gene encoding the interferon-gamma receptor chain I. Immunogenetics 54 (2003) 675-680
17. Komata T., Tsuchiya N., Matsushita M., Hagiwara K., and Tokunaga K. Association of tumor necrosis factor receptor 2 (TNFR2) polymorphism with susceptibility to systemic lupus erythematosus. Tissue Antigens 53 (1999) 527-533
18. Cytokine gene polymorphism in human disease - on-line databases, North Atlantic Neuro-Epidemiology Alliances, University of Aarhus, Denmark, viewed 8th March 2007, .
19. Dalal I., Tabori U., Bielorai B., Golan H., Rosenthal E., Amariglio N., et al. Evolution of a T-B- SCID into an Omenn syndrome phenotype following parainfluenza 3 virus infection. Clin. Immunol. 115 (2005) 70-73
20. Cavadini P., Vermi W., Facchetti F., Fontana S., Nagafuchi S., Mazzolari E., et al. AIRE deficiency in thymus of 2 patients with Omenn syndrome. J. Clin. Invest. 115 (2005) 728-732