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Page 1
Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort.
Rae W, Ward D, Mattocks CJ, Gao Y, Pengelly RJ, Patel SV, Ennis S, Faust SN, Williams AP. Rae W, et al. Among authors: williams ap. Clin Transl Immunology. 2017 Sep 15;6(9):e155. doi: 10.1038/cti.2017.38. eCollection 2017 Sep. Clin Transl Immunology. 2017. PMID: 28983403 Free PMC article.
Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency.
Ramakrishnan KA, Pengelly RJ, Gao Y, Morgan M, Patel SV, Davies EG, Ennis S, Faust SN, Williams AP. Ramakrishnan KA, et al. Among authors: williams ap. J Allergy Clin Immunol Pract. 2016 Nov-Dec;4(6):1160-1166.e10. doi: 10.1016/j.jaip.2016.07.014. Epub 2016 Oct 1. J Allergy Clin Immunol Pract. 2016. PMID: 27707659
A novel germline gain-of-function variant in PIK3CD.
Rae W, Gao Y, Ward D, Mattocks CJ, Eren E, Williams AP. Rae W, et al. Among authors: williams ap. Clin Immunol. 2017 Aug;181:29-31. doi: 10.1016/j.clim.2017.05.020. Epub 2017 May 31. Clin Immunol. 2017. PMID: 28578023 No abstract available.
Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation.
Ramakrishnan KA, Rae W, Barcenas-Morales G, Gao Y, Pengelly RJ, Patel SV, Kumararatne DS, Ennis S, Döffinger R, Faust SN, Williams AP. Ramakrishnan KA, et al. Among authors: williams ap. J Allergy Clin Immunol. 2018 Apr;141(4):1479-1482.e6. doi: 10.1016/j.jaci.2017.11.014. Epub 2017 Dec 7. J Allergy Clin Immunol. 2018. PMID: 29225085 No abstract available.
Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature.
Kerkhofs C, Stevens SJC, Faust SN, Rae W, Williams AP, Wurm P, Østern R, Fockens P, Würfel C, Laass M, Kokke F, Stegmann APA, Brunner HG. Kerkhofs C, et al. Among authors: williams ap. Hum Mutat. 2020 Jan;41(1):196-202. doi: 10.1002/humu.23909. Epub 2019 Sep 23. Hum Mutat. 2020. PMID: 31498527 Free PMC article.
304 results