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Year | Number of Results |
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PubMed (cited) for id: 616576
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Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
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.
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.
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Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans.
Schipp C, Nabhani S, Bienemann K, Simanovsky N, Kfir-Erenfeld S, Assayag-Asherie N, Oommen PT, Revel-Vilk S, Hönscheid A, Gombert M, Ginzel S, Schäfer D, Laws HJ, Yefenof E, Fleckenstein B, Borkhardt A, Stepensky P, Fischer U.
Schipp C, et al.
Haematologica. 2016 Oct;101(10):e392-e396. doi: 10.3324/haematol.2016.145136. Epub 2016 Jun 30.
Haematologica. 2016.
PMID: 27365489
Free PMC article.
No abstract available.
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Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency.
Fliegauf M, Bryant VL, Frede N, Slade C, Woon ST, Lehnert K, Winzer S, Bulashevska A, Scerri T, Leung E, Jordan A, Keller B, de Vries E, Cao H, Yang F, Schäffer AA, Warnatz K, Browett P, Douglass J, Ameratunga RV, van der Meer JW, Grimbacher B.
Fliegauf M, et al.
Am J Hum Genet. 2015 Sep 3;97(3):389-403. doi: 10.1016/j.ajhg.2015.07.008. Epub 2015 Aug 13.
Am J Hum Genet. 2015.
PMID: 26279205
Free PMC article.
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Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q.
Finck A, Van der Meer JW, Schäffer AA, Pfannstiel J, Fieschi C, Plebani A, Webster AD, Hammarström L, Grimbacher B.
Finck A, et al.
Eur J Hum Genet. 2006 Jul;14(7):867-75. doi: 10.1038/sj.ejhg.5201634. Epub 2006 Apr 26.
Eur J Hum Genet. 2006.
PMID: 16639407
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Common variable immunodeficiency (CVID) in a family: an autosomal dominant mode of inheritance.
Nijenhuis T, Klasen I, Weemaes CM, Preijers F, de Vries E, van der Meer JW.
Nijenhuis T, et al.
Neth J Med. 2001 Sep;59(3):134-9. doi: 10.1016/s0300-2977(01)00151-6.
Neth J Med. 2001.
PMID: 11583829
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