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Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.
Maffucci P, Chavez J, Jurkiw TJ, O'Brien PJ, Abbott JK, Reynolds PR, Worth A, Notarangelo LD, Felgentreff K, Cortes P, Boisson B, Radigan L, Cobat A, Dinakar C, Ehlayel M, Ben-Omran T, Gelfand EW, Casanova JL, Cunningham-Rundles C. Maffucci P, et al. Among authors: radigan l. J Clin Invest. 2018 Dec 3;128(12):5489-5504. doi: 10.1172/JCI99629. Epub 2018 Nov 5. J Clin Invest. 2018. PMID: 30395541 Free PMC article.
TLR9 activation is defective in common variable immune deficiency.
Cunningham-Rundles C, Radigan L, Knight AK, Zhang L, Bauer L, Nakazawa A. Cunningham-Rundles C, et al. Among authors: radigan l. J Immunol. 2006 Feb 1;176(3):1978-87. doi: 10.4049/jimmunol.176.3.1978. J Immunol. 2006. PMID: 16424230
Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes.
Zhang L, Radigan L, Salzer U, Behrens TW, Grimbacher B, Diaz G, Bussel J, Cunningham-Rundles C. Zhang L, et al. Among authors: radigan l. J Allergy Clin Immunol. 2007 Nov;120(5):1178-85. doi: 10.1016/j.jaci.2007.10.001. J Allergy Clin Immunol. 2007. PMID: 17983875 Free PMC article.
Toll-like receptor 7 and 9 defects in common variable immunodeficiency.
Yu JE, Knight AK, Radigan L, Marron TU, Zhang L, Sanchez-Ramón S, Cunningham-Rundles C. Yu JE, et al. Among authors: radigan l. J Allergy Clin Immunol. 2009 Aug;124(2):349-56, 356.e1-3. doi: 10.1016/j.jaci.2009.05.019. Epub 2009 Jul 9. J Allergy Clin Immunol. 2009. PMID: 19592080 Free PMC article.
Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome.
Chinen J, Martinez-Gallo M, Gu W, Cols M, Cerutti A, Radigan L, Zhang L, Potocki L, Withers M, Lupski JR, Cunningham-Rundles C. Chinen J, et al. Among authors: radigan l. J Allergy Clin Immunol. 2011 Jun;127(6):1579-86. doi: 10.1016/j.jaci.2011.02.046. Epub 2011 Apr 22. J Allergy Clin Immunol. 2011. PMID: 21514638 Free PMC article.
49 results