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Page 1
A multi-centre UK-based survey on angioedema secondary to acquired C1 inhibitor deficiency.
Morsi H, Huissoon A, Grammatikos A, Whyte A, Manson A, Ekbote A, Sivadasan A, Boulton APR, Herwadkar A, Anantharachagan A, Price A, Steele C, Stroud C, Chopra C, Arnold D, Eren E, Cleave E, Drewe E, Moon E, Zinser E, Hayman G, Alachkar H, Ghanta H, Bourne H, Abdelhakam I, Dempster J, Townsend K, Sooriyakumar K, Lorenzo L, Dziadzio M, Ahuja M, Prasinou M, Frleta-Gilchrist M, Zhang M, Thomas M, Vijayadurai P, Vaitla PM, Sargur R, Herriot R, Yellon RL, Murng SHK, Drinkwater S, Denness S, Denman S, Elkhalifa S, Savic S, Kiani-Alikhan S, Coulter TI, El-Shanawany T, Rahman T, Garcez T, Yong PFK, Jain R. Morsi H, et al. Among authors: thomas m. Clin Exp Immunol. 2025 Jan 4:uxae121. doi: 10.1093/cei/uxae121. Online ahead of print. Clin Exp Immunol. 2025. PMID: 39756409
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: thomas m. Clin Exp Immunol. 2022 Sep 29;209(3):247-258. doi: 10.1093/cei/uxac008. Clin Exp Immunol. 2022. PMID: 35641155 Free PMC article.
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: thomas m. 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.
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. Among authors: thomas m. 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.
Chronic or recurrent Campylobacter enteritis in primary immunodeficiency: A UK national case-series and review of the literature.
Grammatikos A, Thomas M, Johnston S, Moghaddas F, Albur M, Yong P, Buckland M, Grigoriadou S, Whyte AF, Herwadkar A, Gompels M. Grammatikos A, et al. Among authors: thomas m. J Allergy Clin Immunol Pract. 2023 Sep;11(9):2948-2954.e4. doi: 10.1016/j.jaip.2023.05.046. Epub 2023 Jun 8. J Allergy Clin Immunol Pract. 2023. PMID: 37301434 Free article. Review. No abstract available.
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. Among authors: thomas mj. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 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. Among authors: thomas mj. Nature. 2020 Aug;584(7819):E2. doi: 10.1038/s41586-020-2556-6. Nature. 2020. PMID: 32678341
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations.
Thalhammer J, Kindle G, Nieters A, Rusch S, Seppänen MRJ, Fischer A, Grimbacher B, Edgar D, Buckland M, Mahlaoui N, Ehl S; European Society for Immunodeficiencies Registry Working Party. Thalhammer J, et al. J Allergy Clin Immunol. 2021 Nov;148(5):1332-1341.e5. doi: 10.1016/j.jaci.2021.04.015. Epub 2021 Apr 23. J Allergy Clin Immunol. 2021. PMID: 33895260 Free article.
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.
Hadinnapola C, Bleda M, Haimel M, Screaton N, Swift A, Dorfmüller P, Preston SD, Southwood M, Hernandez-Sanchez J, Martin J, Treacy C, Yates K, Bogaard H, Church C, Coghlan G, Condliffe R, Corris PA, Gibbs S, Girerd B, Holden S, Humbert M, Kiely DG, Lawrie A, Machado R, MacKenzie Ross R, Moledina S, Montani D, Newnham M, Peacock A, Pepke-Zaba J, Rayner-Matthews P, Shamardina O, Soubrier F, Southgate L, Suntharalingam J, Toshner M, Trembath R, Vonk Noordegraaf A, Wilkins MR, Wort SJ, Wharton J; NIHR BioResource–Rare Diseases Consortium; UK National Cohort Study of Idiopathic and Heritable PAH; Gräf S, Morrell NW. Hadinnapola C, et al. Circulation. 2017 Nov 21;136(21):2022-2033. doi: 10.1161/CIRCULATIONAHA.117.028351. Epub 2017 Sep 28. Circulation. 2017. PMID: 28972005 Free PMC article.
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer C, Casey RT, Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium; Tischkowitz MD, Maher ER. Whitworth J, et al. Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14. Am J Hum Genet. 2018. PMID: 29909963 Free PMC article.
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