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Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort.
Andriessen MVE, Legger GE, Bredius RGM, van Gijn ME, Hak AE, Muller PCEH, Kamphuis S, Klouwer FCC, Kuijpers TW, Leavis HL, Nierkens S, Rutgers A, van der Veken LT, van Well GTJ, Mulders-Manders CM, van Montfrans JM. Andriessen MVE, et al. Among authors: leavis hl. J Clin Immunol. 2023 Oct;43(7):1581-1596. doi: 10.1007/s10875-023-01521-8. Epub 2023 Jun 5. J Clin Immunol. 2023. PMID: 37277582 Free PMC article. Review.
[Vancomycin resistant enterococci in the Netherlands].
Leavis HL, Willems RJ, Mascini EM, Vandenbroucke-Grauls CM, Bonten MJ. Leavis HL, et al. Ned Tijdschr Geneeskd. 2004 May 1;148(18):878-82. Ned Tijdschr Geneeskd. 2004. PMID: 15152389 Review. Dutch.
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.
Zhou Q, Wang H, Schwartz DM, Stoffels M, Park YH, Zhang Y, Yang D, Demirkaya E, Takeuchi M, Tsai WL, Lyons JJ, Yu X, Ouyang C, Chen C, Chin DT, Zaal K, Chandrasekharappa SC, Hanson EP, Yu Z, Mullikin JC, Hasni SA, Wertz IE, Ombrello AK, Stone DL, Hoffmann P, Jones A, Barham BK, Leavis HL, van Royen-Kerkof A, Sibley C, Batu ED, Gül A, Siegel RM, Boehm M, Milner JD, Ozen S, Gadina M, Chae J, Laxer RM, Kastner DL, Aksentijevich I. Zhou Q, et al. Among authors: leavis hl. Nat Genet. 2016 Jan;48(1):67-73. doi: 10.1038/ng.3459. Epub 2015 Dec 7. Nat Genet. 2016. PMID: 26642243 Free PMC article.
Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.
Van Montfrans JM, Hartman EA, Braun KP, Hennekam EA, Hak EA, Nederkoorn PJ, Westendorp WF, Bredius RG, Kollen WJ, Schölvinck EH, Legger GE, Meyts I, Liston A, Lichtenbelt KD, Giltay JC, Van Haaften G, De Vries Simons GM, Leavis H, Sanders CJ, Bierings MB, Nierkens S, Van Gijn ME. Van Montfrans JM, et al. Rheumatology (Oxford). 2016 May;55(5):902-10. doi: 10.1093/rheumatology/kev439. Epub 2016 Feb 10. Rheumatology (Oxford). 2016. PMID: 26867732
A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease.
Smits BM, Lelieveld PHC, Ververs FA, Turkenburg M, de Koning C, van Dijk M, Leavis HL, Boelens JJ, Lindemans CA, Bloem AC, van de Corput L, van Montfrans J, Nierkens S, van Gijn ME, Geerke DP, Waterham HR, Koenderman L, Boes M. Smits BM, et al. Among authors: leavis hl. Clin Immunol. 2020 Mar;212:108248. doi: 10.1016/j.clim.2019.108248. Epub 2019 Aug 2. Clin Immunol. 2020. PMID: 31382036 No abstract available.
79 results