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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. Among authors: de vries e. 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.
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. Among authors: de vries e. 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.
Primary immunodeficiency associated with chromosomal aberration - an ESID survey.
Schatorjé E, van der Flier M, Seppänen M, Browning M, Morsheimer M, Henriet S, Neves JF, Vinh DC, Alsina L, Grumach A, Soler-Palacin P, Boyce T, Celmeli F, Goudouris E, Hayman G, Herriot R, Förster-Waldl E, Seidel M, Simons A, de Vries E. Schatorjé E, et al. Among authors: de vries e. Orphanet J Rare Dis. 2016 Aug 2;11(1):110. doi: 10.1186/s13023-016-0492-1. Orphanet J Rare Dis. 2016. PMID: 27484815 Free PMC article.
The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data.
Odnoletkova I, Kindle G, Quinti I, Grimbacher B, Knerr V, Gathmann B, Ehl S, Mahlaoui N, Van Wilder P, Bogaerts K, de Vries E; Plasma Protein Therapeutics Association (PPTA) Taskforce. Odnoletkova I, et al. Among authors: de vries e. Orphanet J Rare Dis. 2018 Nov 12;13(1):201. doi: 10.1186/s13023-018-0941-0. Orphanet J Rare Dis. 2018. PMID: 30419968 Free PMC article.
Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group.
Schütz K, Alecsandru D, Grimbacher B, Haddock J, Bruining A, Driessen G, de Vries E, van Hagen PM, Hartmann I, Fraioli F, Milito C, Mitrevski M, Quinti I, Serra G, Kelleher P, Loebinger M, Litzman J, Postranecka V, Thon V, Babar J, Condliffe AM, Exley A, Kumararatne D, Screaton N, Jones A, Bondioni MP, Lougaris V, Plebani A, Soresina A, Sirignano C, Spadaro G, Galal N, Gonzalez-Granado LI, Dettmer S, Stirling R, Chapel H, Lucas M, Patel S, Farber CM, Meyts I, Banerjee AK, Hackett S, Hurst JR, Warnatz K, Gathmann B, Baumann U; Chest CT in Antibody Deficiency Group. Schütz K, et al. Among authors: de vries e. J Clin Immunol. 2019 Jan;39(1):45-54. doi: 10.1007/s10875-018-0577-9. Epub 2018 Dec 13. J Clin Immunol. 2019. PMID: 30547383 Free article.
Correction to: Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group.
Schütz K, Alecsandru D, Grimbacher B, Haddock J, Bruining A, Driessen G, de Vries E, van Hagen PM, Hartmann I, Fraioli F, Milito C, Mitrevski M, Quinti I, Serra G, Kelleher P, Loebinger M, Litzman J, Postranecka V, Thon V, Babar J, Condliffe AM, Exley A, Kumararatne D, Screaton N, Jones A, Bondioni MP, Lougaris V, Plebani A, Soresina A, Sirignano C, Spadaro G, Galal N, Gonzalez-Granado LI, Dettmer S, Stirling R, Chapel H, Lucas M, Patel S, Farber CM, Meyts I, Banerjee AK, Hackett S, Hurst JR, Warnatz K, Gathmann B, Weidemann J, Berthold D, Baumann U; Chest CT in Antibody Deficiency Group. Schütz K, et al. Among authors: de vries e. J Clin Immunol. 2019 Feb;39(2):225-227. doi: 10.1007/s10875-019-00609-4. J Clin Immunol. 2019. PMID: 30905051
Immunoglobulin Replacement Therapy Versus Antibiotic Prophylaxis as Treatment for Incomplete Primary Antibody Deficiency.
Smits BM, Kleine Budde I, de Vries E, Ten Berge IJM, Bredius RGM, van Deuren M, van Dissel JT, Ellerbroek PM, van der Flier M, van Hagen PM, Nieuwhof C, Rutgers B, Sanders LEAM, Simon A, Kuijpers TW, van Montfrans JM. Smits BM, et al. Among authors: de vries e. J Clin Immunol. 2021 Feb;41(2):382-392. doi: 10.1007/s10875-020-00841-3. Epub 2020 Nov 18. J Clin Immunol. 2021. PMID: 33206257 Free PMC article. Clinical Trial.
1,992 results