메뉴 건너뛰기




Volumn 13, Issue 2, 2009, Pages 244-250

Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency

Author keywords

Common gamma chain; Omenn syndrome; RAG1; Severe combined immune deficiency

Indexed keywords

ANTIBIOTIC AGENT; BUSULFAN; CYCLOPHOSPHAMIDE; CYTOKINE RECEPTOR; FLUDARABINE; IMMUNOGLOBULIN G; RECOMBINASE; RITUXIMAB; THYMOCYTE ANTIBODY;

EID: 59449106399     PISSN: 13973142     EISSN: 13993046     Source Type: Journal    
DOI: 10.1111/j.1399-3046.2008.00970.x     Document Type: Article
Times cited : (27)

References (18)
  • 1
    • 0000263266 scopus 로고
    • Familial reticuloendotheliosis with eosinophilia
    • Omenn GS. Familial reticuloendotheliosis with eosinophilia. N Engl J Med 1965 : 273 : 427 432.
    • (1965) N Engl J Med , vol.273 , pp. 427-432
    • Omenn, G.S.1
  • 2
    • 0032577548 scopus 로고    scopus 로고
    • Partial V(D)J recombination activity leads to Omenn syndrome
    • Villa A, Santagata S, Bozzi F, et al. Partial V(D)J recombination activity leads to Omenn syndrome. Cell 1998 : 93 : 885 896.
    • (1998) Cell , vol.93 , pp. 885-896
    • Villa, A.1    Santagata, S.2    Bozzi, F.3
  • 4
    • 23444456160 scopus 로고    scopus 로고
    • Omenn's syndrome occurring in patients without mutations in recombination activating genes
    • Gennery AR, Hodges E, Williams AP, et al. Omenn's syndrome occurring in patients without mutations in recombination activating genes. Clin Immunol 2005 : 116 : 246 256.
    • (2005) Clin Immunol , vol.116 , pp. 246-256
    • Gennery, A.R.1    Hodges, E.2    Williams, A.P.3
  • 5
    • 20044376279 scopus 로고    scopus 로고
    • AIRE deficiency in thymus of 2 patients with Omenn syndrome
    • Cavadini P, Vermi W, Facchetti F, et al. AIRE deficiency in thymus of 2 patients with Omenn syndrome. J Clin Invest 2005 : 115 : 728 732.
    • (2005) J Clin Invest , vol.115 , pp. 728-732
    • Cavadini, P.1    Vermi, W.2    Facchetti, F.3
  • 6
    • 33344456243 scopus 로고    scopus 로고
    • Omenn syndrome in an infant with IL7RA gene mutation
    • Giliani S, Bonfim C, de Saint Basile G, et al. Omenn syndrome in an infant with IL7RA gene mutation. J Pediatr 2006 : 148 : 272 274.
    • (2006) J Pediatr , vol.148 , pp. 272-274
    • Giliani, S.1    Bonfim, C.2    De Saint Basile, G.3
  • 7
    • 33646075180 scopus 로고    scopus 로고
    • Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome
    • Roifman CM, Gu Y, Cohen A. Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome. J Allergy Clin Immunol 2006 : 117 : 897 903.
    • (2006) J Allergy Clin Immunol , vol.117 , pp. 897-903
    • Roifman, C.M.1    Gu, Y.2    Cohen, A.3
  • 8
    • 19344374008 scopus 로고    scopus 로고
    • Omenn syndrome due to ARTEMIS mutations
    • Ege M, Ma Y, Manfras B, et al. Omenn syndrome due to ARTEMIS mutations. Blood 2005 : 105 : 4179 4186.
    • (2005) Blood , vol.105 , pp. 4179-4186
    • Ege, M.1    Ma, Y.2    Manfras, B.3
  • 9
    • 0035353213 scopus 로고    scopus 로고
    • 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
    • Corneo B, Moshous D, Gungor T, 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 2001 : 97 : 2772 2776.
    • (2001) Blood , vol.97 , pp. 2772-2776
    • Corneo, B.1    Moshous, D.2    Gungor, T.3
  • 10
    • 0035161258 scopus 로고    scopus 로고
    • V(D)J recombination defects in lymphocytes due to RAG mutations: Severe immunodeficiency with a spectrum of clinical presentations
    • Villa A, Sobacchi C, Notarangelo LD, et al. V(D)J recombination defects in lymphocytes due to RAG mutations: Severe immunodeficiency with a spectrum of clinical presentations. Blood 2001 : 97 : 81 88.
    • (2001) Blood , vol.97 , pp. 81-88
    • Villa, A.1    Sobacchi, C.2    Notarangelo, L.D.3
  • 11
    • 0034687695 scopus 로고    scopus 로고
    • 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
    • Santagata S, Gomez CA, Sobacchi C, et al. 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 2000 : 97 : 14572 14577.
    • (2000) Proc Natl Acad Sci U S a , vol.97 , pp. 14572-14577
    • Santagata, S.1    Gomez, C.A.2    Sobacchi, C.3
  • 12
    • 0030899948 scopus 로고    scopus 로고
    • Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency
    • Puck JM, Pepper AE, Henthorn PS, et al. Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. Blood 1997 : 89 : 1968 1977.
    • (1997) Blood , vol.89 , pp. 1968-1977
    • Puck, J.M.1    Pepper, A.E.2    Henthorn, P.S.3
  • 13
    • 27644538025 scopus 로고    scopus 로고
    • A variant of SCID with specific immune responses and predominance of γδT cells
    • Ehl S, Schwarz K, Enders A, et al. A variant of SCID with specific immune responses and predominance of γδT cells. J Clin Invest 2005 : 115 : 3140 3148.
    • (2005) J Clin Invest , vol.115 , pp. 3140-3148
    • Ehl, S.1    Schwarz, K.2    Enders, A.3
  • 14
    • 27644559049 scopus 로고    scopus 로고
    • A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection
    • deVillartay JP, Lim A, Al-Mousa H, et al. A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. J Clin Invest 2005 : 115 : 3291 3299.
    • (2005) J Clin Invest , vol.115 , pp. 3291-3299
    • Devillartay, J.P.1    Lim, A.2    Al-Mousa, H.3
  • 15
    • 18144365147 scopus 로고    scopus 로고
    • Evolution of a T-B-SCID into an Omenn syndrome phenotype following parainfluenza 3 virus infection
    • Dalal I, Tabori U, Bielorai B, et al. Evolution of a T-B-SCID into an Omenn syndrome phenotype following parainfluenza 3 virus infection. Clin Immunol 2005 : 115 : 70 73.
    • (2005) Clin Immunol , vol.115 , pp. 70-73
    • Dalal, I.1    Tabori, U.2    Bielorai, B.3
  • 16
    • 24744460541 scopus 로고    scopus 로고
    • Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immune deficiency
    • Wada T, Toma T, Okamoto H, et al. Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immune deficiency. Blood 2005 : 106 : 2099 2101.
    • (2005) Blood , vol.106 , pp. 2099-2101
    • Wada, T.1    Toma, T.2    Okamoto, H.3
  • 17
    • 0034234671 scopus 로고    scopus 로고
    • N-terminal truncated human RAG1 proteins can direct T-cell receptor but not immunoglobulin gene rearrangements
    • Noordzij JG, Verkaik NS, Hartwig NG, de Groot R, van Gent DC, van Dongen JM. N-terminal truncated human RAG1 proteins can direct T-cell receptor but not immunoglobulin gene rearrangements. Blood 2000 : 96 : 203 209.
    • (2000) Blood , vol.96 , pp. 203-209
    • Noordzij, J.G.1    Verkaik, N.S.2    Hartwig, N.G.3    De Groot, R.4    Van Gent, D.C.5    Van Dongen, J.M.6
  • 18
    • 10144253125 scopus 로고    scopus 로고
    • RAG mutations in human B cell-negative SCID
    • Schwarz K, Gauss GH, Ludwig L, et al. RAG mutations in human B cell-negative SCID. Science 1996 : 274 : 97 99.
    • (1996) Science , vol.274 , pp. 97-99
    • Schwarz, K.1    Gauss, G.H.2    Ludwig, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.