Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders

Clinical and Experimental Immunology

Volumn 119, Issue 1, 2000, Pages 148-155

  Wada, T ^a   Takei, K ^a   Kudo, M ^a   Shimura, S ^a   Kasahara, Y ^a   Koizumi, S ^a   Kawa Ha, K ^a,b   Ishida, Y ^a,c   Imashuku, S ^a,d   Seki, H ^a   Yachie, A ^a,e  

^a Department of Paediatrics ^*  (Japan)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^c EHIME UNIVERSITY   (Japan)

^d KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^e KANAZAWA UNIVERSITY   (Japan)

Author keywords

Omenn syndrome; RAG; V(D)J recombination

Indexed keywords

ARTICLE; CLINICAL ARTICLE; COMBINED IMMUNODEFICIENCY; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; HYPOGAMMAGLOBULINEMIA; IMMUNE SYSTEM; INFANT; MALE; MISSENSE MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

APOPTOSIS; BASE SEQUENCE; CYTOKINES; DNA NUCLEOTIDYLTRANSFERASES; DNA PRIMERS; DNA-BINDING PROTEINS; FEMALE; GENES, RAG-1; HUMANS; IMMUNOPHENOTYPING; INFANT; INFANT, NEWBORN; LYMPH NODES; LYMPHOCYTE ACTIVATION; MALE; MUTATION, MISSENSE; NUCLEAR PROTEINS; SEVERE COMBINED IMMUNODEFICIENCY; SYNDROME; VDJ RECOMBINASES;

EID: 0033959361     PISSN: 00099104     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2249.2000.01101.x     Document Type: Article

References (26)

1. 1 Omenn GS. Familial reticuloendotheliosis with eosinophilia. N Engl J Med 1965; 273:427-32.
2. 2 Businco L, Di Fazio A, Ziruolo MG et al. Clinical and immunological findings in four infants with Omenn's syndrome: a form of severe combined immunodeficiency with phenotypically normal T cells, elevated IgE, and eosinophilia. Clin Immunol Immunopathol 1987; 44:123-33.
3. 3 Morren M, Van Lierde S, Lacquet F et al. A case of Omenn-like immunodeficiency syndrome. Dermatology 1992; 185:302-4.
4. 4 Wirt DP, Brooks EG, Vaidya S el al. Novel T-lymphocyte population in combined immunodeficiency with features of graft-versus-host disease. N EngI J Med 1989; 321:370-4.
5. 5 Pupo RA, Tyring SK, Raimer SS el al. Omenn's syndrome and related combined immunodeficiency syndromes: diagnostic considerations in infants with persistent erythroderma and failure to thrive. J Am Acad Dermatol 1991; 25:442-6.
6. 6 Glover MT, Atherton DJ, Levinsky RJ. Syndrome of erythroderma, failure to thrive, and diarrhea in infancy: a manifestation of immunodeficiency. Pediatrics 1988; 81:66-72.
7. 7 Villa A, Santagata S, Bozzi F et al. Partial V(D)J recombination activity leads to Omenn syndrome. Cell 1998; 93:885-96.
8. 8 Schwarz K, Gauss GH, Ludwig L et al. RAG mutations in human B cell-negative SCID. Science 1996; 274:97-9.
9. 9 Tachinami T, Koizumi S, Yachie A et al. Immune status in two brothers with Omenn's syndrome: no discernible chimerism on FACS analysis using a monoclonal antibody specific for a maternally restricted HLA antigen. Am J Pediatr Hematol Oncol 1990; 12:343-50.
10. 10 Wada T, Seki H, Konno A et al. Developmental changes and functional properties of human memory T cell subpopulations defined by CD60 expression. Cell Immunol 1998; 187:117-23.
11. 11 Kasahara Y, Wada T, Niida Y et al. Novel Fas (CD95/APO-1) mutations in infants with a lymphoproliferative disorder. Int Immunol 1998; 10:195-202.
12. 12 Ichihara Y, Hirai M, Kurosawa Y. Sequence and chromosome assignment to 11p13-p12 of human RAG genes. Immunol Letters 1992; 33:277-84.
13. 13 Yachie A, Niida Y, Wada T et al. Oxidative stress causes enhanced endothelial cell injury in human heme oxygenase-1 deficiency. J Clin Invest 1999; 103:129-35.
14. 14 Schwarz K, Notarangelo LD, Spanopoulou E et al. Recombination defects. In: Ochs HD, Smith CIE, Puck JM, eds. Primary immunodeficiency diseases. New York: Oxford University Press, 1999.
15. 15 De Saint-Basile G, Le Deist F, De Villartay JP et al. Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome). J Clin Invest 1991; 87:1352-9.
16. 16 Harville TO, Adams DM, Howard TA et al. Oligoclonal expansion of CD45RO+ T lymphocytes in Omenn syndrome. J Clin Immunol 1997; 17:322-32.
17. 17 Brugnoni D, Airo P, Facchetti F et al. In vitro cell death of activated lymphocytes in Omenn's syndrome. Eur J Immunol 1997; 27:2765-73.
18. 18 Schandene L, Ferster A, Mascart-Lemone F et al. T helper type 2-like cells and therapeutic effects of interferon-gamma in combined immunodeficiency with hypereosinophilia (Omenn's syndrome). Eur J Immunol 1993; 23:56-60.
19. - T cell population expressing high levels of IL-5 in Omenn's syndrome. Clin Exp Immunol 1994; 95:14-21.
20. 20 Chilosi M, Facchetti F, Notarangelo LD et al. CD30 cell expression and abnormal soluble CD30 serum accumulation in Omenn's syndrome: evidence for a T helper 2-mediated condition. Eur J Immunol 1996; 26:329-34.
21. 21 Ochs HD, Davis SD, Mickelson E et al. Combined immunodeficiency and reticuloendotheliosis with eosinophilia. J Pediatr 1974; 85:463-5.
22. 22 Ruco LP, Stoppacciaro A, Pezzella F et al. The Omenn's syndrome: histological, immunohistochemical and ultrastructural evidence for a partial T cell deficiency evolving in an abnormal proliferation of T lymphocytes and S-100+/T-6+ Langerhans-like cells. Virchows Arch A Pathol Anat Histopathol 1985; 407:69-82.
23. 23 Dyke MP, Marlow N, Berry PJ. Omenn's disease. Arch Dis Child 1991; 6:1247-8.
24. 24 Jouan H, Le Deist F, Nezelof C. Omenn's syndrome - pathologic arguments in favor of a graft versus host pathogenesis: a report of nine cases. Hum Pathol 1987; 18:1101-8.
25. 25 Brooks EG, Filipovich AH, Padgett JW et al. T-cell receptor analysis in Omenn's syndrome: evidence for defects in gene rearrangement and assembly. Blood 1999; 93:242-50.
26. 26 Chilosi M, Facchetti F, Notarangelo LD et al. CD30 cell expression and abnormal soluble CD30 serum accumulation in Omenn's syndrome: evidence for a T helper 2-mediated condition. Eur J Immunol 1996; 26:329-34.