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Page 1
Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.
Lugo-Reyes SO, Pastor N, González-Serrano E, Yamazaki-Nakashimada MA, Scheffler-Mendoza S, Berron-Ruiz L, Wakida G, Nuñez-Nuñez ME, Macias-Robles AP, Staines-Boone AT, Venegas-Montoya E, Alaez-Verson C, Molina-Garay C, Flores-Lagunes LL, Carrillo-Sanchez K, Niemela J, Rosenzweig SD, Gaytan P, Yañez JA, Martinez-Duncker I, Notarangelo LD, Espinosa-Padilla S, Cruz-Munoz ME. Lugo-Reyes SO, et al. Among authors: notarangelo ld. J Clin Immunol. 2021 Aug;41(6):1291-1302. doi: 10.1007/s10875-021-01052-0. Epub 2021 May 5. J Clin Immunol. 2021. PMID: 33954879 Free PMC article.
Omenn syndrome: a disorder of Rag1 and Rag2 genes.
Villa A, Santagata S, Bozzi F, Imberti L, Notarangelo LD. Villa A, et al. Among authors: notarangelo ld. J Clin Immunol. 1999 Mar;19(2):87-97. doi: 10.1023/a:1020550432126. J Clin Immunol. 1999. PMID: 10226883 Review.
A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside.
Bousfiha AA, Jeddane L, Ailal F, Al Herz W, Conley ME, Cunningham-Rundles C, Etzioni A, Fischer A, Franco JL, Geha RS, Hammarström L, Nonoyama S, Ochs HD, Roifman CM, Seger R, Tang ML, Puck JM, Chapel H, Notarangelo LD, Casanova JL. Bousfiha AA, et al. Among authors: notarangelo ld. J Clin Immunol. 2013 Aug;33(6):1078-87. doi: 10.1007/s10875-013-9901-6. Epub 2013 May 9. J Clin Immunol. 2013. PMID: 23657403 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. Among authors: notarangelo ld. 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.
Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations.
Chen K, Wu W, Mathew D, Zhang Y, Browne SK, Rosen LB, McManus MP, Pulsipher MA, Yandell M, Bohnsack JF, Jorde LB, Notarangelo LD, Walter JE. Chen K, et al. Among authors: notarangelo ld. J Allergy Clin Immunol. 2014 Mar;133(3):880-2.e10. doi: 10.1016/j.jaci.2013.11.038. Epub 2014 Jan 25. J Allergy Clin Immunol. 2014. PMID: 24472623 Free PMC article. No abstract available.
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: notarangelo ld. 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: notarangelo ld. 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.
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: notarangelo ld. 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.
747 results