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A novel splice-site mutation in NFKB1 presenting as common variable immunodeficiency and postoperative hyperinflammation responsive to anti-IL-1 therapy.
Eddens T, Lue J, Sojati J, Tomani M, Dede O, Kernan K, Kietz D, Larkin A, Chong H, Coffey K. Eddens T, et al. Among authors: larkin a. J Allergy Clin Immunol Pract. 2024 Oct;12(10):2873-2876.e1. doi: 10.1016/j.jaip.2024.06.024. Epub 2024 Jun 18. J Allergy Clin Immunol Pract. 2024. PMID: 38901617 No abstract available.
PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants.
Baysac K, Sun G, Nakano H, Schmitz EG, Cruz AC, Fisher C, Bailey AC; PLCG2-Immune Dysregulation Working Group; Mace E, Milner JD, Ombrello MJ. Baysac K, et al. J Allergy Clin Immunol. 2024 Jan;153(1):230-242. doi: 10.1016/j.jaci.2023.08.036. Epub 2023 Sep 26. J Allergy Clin Immunol. 2024. PMID: 37769878 Free PMC article.
Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial.
Muntau AC, Longo N, Ezgu F, Schwartz IVD, Lah M, Bratkovic D, Margvelashvili L, Kiykim E, Zori R, Campistol Plana J, Bélanger-Quintana A, Lund A, Guilder L, Chakrapani A, Mungan HN, Guimas A, Cabrales Guerra IDC, MacDonald A, Ingalls K, Smith N; APHENITY study group. Muntau AC, et al. Lancet. 2024 Oct 5;404(10460):1333-1345. doi: 10.1016/S0140-6736(24)01556-3. Lancet. 2024. PMID: 39368841 Clinical Trial.
312 results