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Page 1
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.
Tuijnenburg P, Lango Allen H, Burns SO, Greene D, Jansen MH, Staples E, Stephens J, Carss KJ, Biasci D, Baxendale H, Thomas M, Chandra A, Kiani-Alikhan S, Longhurst HJ, Seneviratne SL, Oksenhendler E, Simeoni I, de Bree GJ, Tool ATJ, van Leeuwen EMM, Ebberink EHTM, Meijer AB, Tuna S, Whitehorn D, Brown M, Turro E, Thrasher AJ, Smith KGC, Thaventhiran JE, Kuijpers TW; NIHR BioResource–Rare Diseases Consortium. Tuijnenburg P, et al. J Allergy Clin Immunol. 2018 Oct;142(4):1285-1296. doi: 10.1016/j.jaci.2018.01.039. Epub 2018 Mar 2. J Allergy Clin Immunol. 2018. PMID: 29477724 Free PMC article.
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Aug;584(7819):E2. doi: 10.1038/s41586-020-2556-6. Nature. 2020. PMID: 32678341
Outcomes following SARS-CoV-2 infection in patients with primary and secondary immunodeficiency in the UK.
Shields AM, Anantharachagan A, Arumugakani G, Baker K, Bahal S, Baxendale H, Bermingham W, Bhole M, Boules E, Bright P, Chopra C, Cliffe L, Cleave B, Dempster J, Devlin L, Dhalla F, Diwakar L, Drewe E, Duncan C, Dziadzio M, Elcombe S, Elkhalifa S, Gennery A, Ghanta H, Goddard S, Grigoriadou S, Hackett S, Hayman G, Herriot R, Herwadkar A, Huissoon A, Jain R, Jolles S, Johnston S, Khan S, Laffan J, Lane P, Leeman L, Lowe DM, Mahabir S, Lochlainn DJM, McDermott E, Misbah S, Moghaddas F, Morsi H, Murng S, Noorani S, O'Brien R, Patel S, Price A, Rahman T, Seneviratne S, Shrimpton A, Stroud C, Thomas M, Townsend K, Vaitla P, Verma N, Williams A, Burns SO, Savic S, Richter AG. Shields AM, et al. Among authors: anantharachagan a. Clin Exp Immunol. 2022 Sep 29;209(3):247-258. doi: 10.1093/cei/uxac008. Clin Exp Immunol. 2022. PMID: 35641155 Free PMC article.
Practical challenges for functional validation of STAT1 gain of function genetic variants.
Albuquerque AS, Maimaris J, McKenna AJ, Lambourne J, Moreira F, Workman S, Megy K, Simeoni I, Lango Allen H; NIHR BioResource-Rare Disease Consortium; Morris EC, Burns SO. Albuquerque AS, et al. Clin Exp Immunol. 2023 Apr 25;212(2):166-169. doi: 10.1093/cei/uxad008. Clin Exp Immunol. 2023. PMID: 36722341 Free PMC article. No abstract available.
A National Survey of Hereditary Angioedema and Acquired C1 Inhibitor Deficiency in the United Kingdom.
Yong PFK, Coulter T, El-Shanawany T, Garcez T, Hackett S, Jain R, Kiani-Alikhan S, Manson A, Noorani S, Stroud C, Symons C, Sargur R, Steele C, Alachkar H, Anantharachagan A, Arkwright PD, Bernatoniene J, Bhole M, Brown L, Buckland M, Burns S, Chopra C, Darroch J, Drewe E, Edmonds J, Ekbote A, Elkhalifa S, Goddard S, Grosse-Kreul D, Gurugama P, Hague R, Herriot R, Herwadkar A, Hughes SM, Jones L, Lear S, McDermott E, Kham Murng SH, Price A, Redenbaugh V, Richter A, Riordan A, Shackley F, Stichbury J, Springett D, Tarzi MD, Thomas M, Vijayadurai P, Worth A. Yong PFK, et al. Among authors: anantharachagan a. J Allergy Clin Immunol Pract. 2023 Aug;11(8):2476-2483. doi: 10.1016/j.jaip.2023.04.035. Epub 2023 May 3. J Allergy Clin Immunol Pract. 2023. PMID: 37146882 Free article.
Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma.
Minskaia E, Maimaris J, Jenkins P, Albuquerque AS, Hong Y, Eleftheriou D, Gilmour KC, Grace R, Moreira F, Grimbacher B; NIHR Bioresource-Rare Diseases Consortium; Morris EC, Burns SO. Minskaia E, et al. J Clin Immunol. 2023 Oct;43(7):1611-1622. doi: 10.1007/s10875-023-01530-7. Epub 2023 Jun 14. J Clin Immunol. 2023. PMID: 37316763 Free PMC article.
Fish and shellfish allergy: Presentation and management differences in the UK and US-analysis of 945 patients.
Nakonechna A, van Bergen A, Anantharachagan A, Arnold D, Johnston N, Nadeau K, Rutkowski K, Sindher SB, Sriaroon P, Thomas I, Vijayadurai P, Wagner A, Davis CM. Nakonechna A, et al. Among authors: anantharachagan a. J Allergy Clin Immunol Glob. 2024 Jul 22;3(4):100309. doi: 10.1016/j.jacig.2024.100309. eCollection 2024 Nov. J Allergy Clin Immunol Glob. 2024. PMID: 39253105 Free PMC article.
17 results