Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

338 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
The United Kingdom Primary Immune Deficiency (UKPID) Registry: report of the first 4 years' activity 2008-2012.
Edgar JD, Buckland M, Guzman D, Conlon NP, Knerr V, Bangs C, Reiser V, Panahloo Z, Workman S, Slatter M, Gennery AR, Davies EG, Allwood Z, Arkwright PD, Helbert M, Longhurst HJ, Grigoriadou S, Devlin LA, Huissoon A, Krishna MT, Hackett S, Kumararatne DS, Condliffe AM, Baxendale H, Henderson K, Bethune C, Symons C, Wood P, Ford K, Patel S, Jain R, Jolles S, El-Shanawany T, Alachkar H, Herwadkar A, Sargur R, Shrimpton A, Hayman G, Abuzakouk M, Spickett G, Darroch CJ, Paulus S, Marshall SE, McDermott EM, Heath PT, Herriot R, Noorani S, Turner M, Khan S, Grimbacher B. Edgar JD, et al. Among authors: hackett s. Clin Exp Immunol. 2014 Jan;175(1):68-78. doi: 10.1111/cei.12172. Clin Exp Immunol. 2014. PMID: 23841717 Free PMC article. Clinical Trial.
Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.
Record J, Malinova D, Zenner HL, Plagnol V, Nowak K, Syed F, Bouma G, Curtis J, Gilmour K, Cale C, Hackett S, Charras G, Moulding D, Nejentsev S, Thrasher AJ, Burns SO. Record J, et al. Among authors: hackett s. Blood. 2015 Sep 24;126(13):1527-35. doi: 10.1182/blood-2014-12-611012. Epub 2015 Jul 29. Blood. 2015. PMID: 26224645 Free PMC 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. 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.
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 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 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: hackett s. 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.
338 results