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T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.
Brigida I, Zoccolillo M, Cicalese MP, Pfajfer L, Barzaghi F, Scala S, Oleaga-Quintas C, Álvarez-Álvarez JA, Sereni L, Giannelli S, Sartirana C, Dionisio F, Pavesi L, Benavides-Nieto M, Basso-Ricci L, Capasso P, Mazzi B, Rosain J, Marcus N, Lee YN, Somech R, Degano M, Raiola G, Caorsi R, Picco P, Moncada Velez M, Khourieh J, Arias AA, Bousfiha A, Issekutz T, Issekutz A, Boisson B, Dobbs K, Villa A, Lombardo A, Neven B, Moshous D, Casanova JL, Franco JL, Notarangelo LD, Scielzo C, Volpi S, Dupré L, Bustamante J, Gattorno M, Aiuti A. Brigida I, et al. Among authors: lee yn. Blood. 2018 Nov 29;132(22):2362-2374. doi: 10.1182/blood-2018-07-863431. Epub 2018 Sep 25. Blood. 2018. PMID: 30254128 Free PMC article.
Hypomorphic Rag mutations can cause destructive midline granulomatous disease.
De Ravin SS, Cowen EW, Zarember KA, Whiting-Theobald NL, Kuhns DB, Sandler NG, Douek DC, Pittaluga S, Poliani PL, Lee YN, Notarangelo LD, Wang L, Alt FW, Kang EM, Milner JD, Niemela JE, Fontana-Penn M, Sinal SH, Malech HL. De Ravin SS, et al. Among authors: lee yn. Blood. 2010 Aug 26;116(8):1263-71. doi: 10.1182/blood-2010-02-267583. Epub 2010 May 20. Blood. 2010. PMID: 20489056 Free PMC article.
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
Lee YN, Frugoni F, Dobbs K, Walter JE, Giliani S, Gennery AR, Al-Herz W, Haddad E, LeDeist F, Bleesing JH, Henderson LA, Pai SY, Nelson RP, El-Ghoneimy DH, El-Feky RA, Reda SM, Hossny E, Soler-Palacin P, Fuleihan RL, Patel NC, Massaad MJ, Geha RS, Puck JM, Palma P, Cancrini C, Chen K, Vihinen M, Alt FW, Notarangelo LD. Lee YN, et al. J Allergy Clin Immunol. 2014 Apr;133(4):1099-108. doi: 10.1016/j.jaci.2013.10.007. Epub 2013 Nov 28. J Allergy Clin Immunol. 2014. PMID: 24290284 Free PMC article.
RAG1 reversion mosaicism in a patient with Omenn syndrome.
Crestani E, Choo S, Frugoni F, Lee YN, Richards S, Smart J, Notarangelo LD. Crestani E, et al. Among authors: lee yn. J Clin Immunol. 2014 Jul;34(5):551-4. doi: 10.1007/s10875-014-0051-2. Epub 2014 May 10. J Clin Immunol. 2014. PMID: 24817258 Free PMC article.
A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.
Abolhassani H, Wang N, Aghamohammadi A, Rezaei N, Lee YN, Frugoni F, Notarangelo LD, Pan-Hammarström Q, Hammarström L. Abolhassani H, et al. Among authors: lee yn. J Allergy Clin Immunol. 2014 Dec;134(6):1375-1380. doi: 10.1016/j.jaci.2014.04.042. Epub 2014 Jul 2. J Allergy Clin Immunol. 2014. PMID: 24996264 Free PMC article.
Next generation sequencing reveals skewing of the T and B cell receptor repertoires in patients with wiskott-Aldrich syndrome.
O'Connell AE, Volpi S, Dobbs K, Fiorini C, Tsitsikov E, de Boer H, Barlan IB, Despotovic JM, Espinosa-Rosales FJ, Hanson IC, Kanariou MG, Martínez-Beckerat R, Mayorga-Sirera A, Mejia-Carvajal C, Radwan N, Weiss AR, Pai SY, Lee YN, Notarangelo LD. O'Connell AE, et al. Among authors: lee yn. Front Immunol. 2014 Jul 18;5:340. doi: 10.3389/fimmu.2014.00340. eCollection 2014. Front Immunol. 2014. PMID: 25101082 Free PMC article.
Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.
Buchbinder D, Baker R, Lee YN, Ravell J, Zhang Y, McElwee J, Nugent D, Coonrod EM, Durtschi JD, Augustine NH, Voelkerding KV, Csomos K, Rosen L, Browne S, Walter JE, Notarangelo LD, Hill HR, Kumánovics A. Buchbinder D, et al. Among authors: lee yn. J Clin Immunol. 2015 Feb;35(2):119-24. doi: 10.1007/s10875-014-0121-5. Epub 2014 Dec 17. J Clin Immunol. 2015. PMID: 25516070 Free PMC article.
515 results