| 1 | RAG1, RAG2, SCIDO
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| Biochemical and folding defects in a RAG1 variant associated with Omenn syndrome.
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| Simkus C, Anand P, Bhattacharyya A, Jones JM.
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| J Immunol 179(12):8332-40.PMID: 18056378 2007
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| 2 | SCIDO
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| AIRE deficiency in thymus of 2 patients with Omenn syndrome.
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| Cavadini P, Vermi W, Facchetti F, Fontana S, Nagafuchi S, Mazzolari E, Sediva A, Marrella V, Villa A, Fischer A, Notarangelo LD, Badolato R.
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| J Clin Invest 115(3):728-32. 2005
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| 3 | RAG1, SCIDO
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| 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
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| Santagata S, Gomez CA, Sobacchi C, Bozzi F, Abinun M, Pasic S, Cortes P, Vezzoni P, Villa A.
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| Proc Natl Acad Sci U S A 97(26):14572-7. 2000
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| 4 | RAG1, RAG2, SCIDO
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| The genetic and biochemical basis of Omenn syndrome.
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| Santagata S, Villa A, Sobacchi C, Cortes P, Vezzoni P.
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| Immunol Rev 178:64-74. Review. 2000
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| 5 | SCIDO
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| T-cell receptor analysis in Omenn's syndrome: evidence for defects in gene rearrangement and assembly.
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| Brooks EG, Filipovich AH, Padgett JW, Mamlock R, Goldblum RM.
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| Blood 93(1):242-50 1999
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| 6 | RAG1, RAG2, SCIDO
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| Partial V(D)J recombination activity leads to Omenn syndrome.
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| Villa A, et al.
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| Cell 93 : 885-896. 1998
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| 7 | RAG1, RAG2, SCIDO
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| Oligoclonal expansion of CD45RO+ T lymphocytes in Omenn syndrome.
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| Harville TO, et al.
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| J Clin Immunol 17 : 322-332. 1997
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