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Page 1
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. Among authors: meyts i. Rheumatology (Oxford). 2016 May;55(5):902-10. doi: 10.1093/rheumatology/kev439. Epub 2016 Feb 10. Rheumatology (Oxford). 2016. PMID: 26867732
Olmsted syndrome: exploration of the immunological phenotype.
Danso-Abeam D, Zhang J, Dooley J, Staats KA, Van Eyck L, Van Brussel T, Zaman S, Hauben E, Van de Velde M, Morren MA, Renard M, Van Geet C, Schaballie H, Lambrechts D, Tao J, Franckaert D, Humblet-Baron S, Meyts I, Liston A. Danso-Abeam D, et al. Among authors: meyts i. Orphanet J Rare Dis. 2013 May 21;8:79. doi: 10.1186/1750-1172-8-79. Orphanet J Rare Dis. 2013. PMID: 23692804 Free PMC article.
Mutant ADA2 in vasculopathies.
Van Eyck L, Liston A, Meyts I. Van Eyck L, et al. Among authors: meyts i. N Engl J Med. 2014 Jul 31;371(5):478-9. doi: 10.1056/NEJMc1405506. N Engl J Med. 2014. PMID: 25075846 No abstract available.
Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency.
Van Eyck L Jr, Hershfield MS, Pombal D, Kelly SJ, Ganson NJ, Moens L, Frans G, Schaballie H, De Hertogh G, Dooley J, Bossuyt X, Wouters C, Liston A, Meyts I. Van Eyck L Jr, et al. Among authors: meyts i. J Allergy Clin Immunol. 2015 Jan;135(1):283-7.e5. doi: 10.1016/j.jaci.2014.10.010. Epub 2014 Nov 25. J Allergy Clin Immunol. 2015. PMID: 25457153 Free PMC article. No abstract available.
Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.
Hashem H, Kumar AR, Müller I, Babor F, Bredius R, Dalal J, Hsu AP, Holland SM, Hickstein DD, Jolles S, Krance R, Sasa G, Taskinen M, Koskenvuo M, Saarela J, van Montfrans J, Wilson K, Bosch B, Moens L, Hershfield M, Meyts I; Deficiency of Adenosine Deaminase Type 2 Foundation. Hashem H, et al. Among authors: meyts i. Blood. 2017 Dec 14;130(24):2682-2688. doi: 10.1182/blood-2017-07-798660. Epub 2017 Oct 3. Blood. 2017. PMID: 28974505 Free PMC article.
Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study.
Ferrua F, Galimberti S, Courteille V, Slatter MA, Booth C, Moshous D, Neven B, Blanche S, Cavazzana M, Laberko A, Shcherbina A, Balashov D, Soncini E, Porta F, Al-Mousa H, Al-Saud B, Al-Dhekri H, Arnaout R, Formankova R, Bertrand Y, Lange A, Smart J, Wolska-Kusnierz B, Aquino VM, Dvorak CC, Fasth A, Fouyssac F, Heilmann C, Hoenig M, Schuetz C, Kelečić J, Bredius RGM, Lankester AC, Lindemans CA, Suarez F, Sullivan KE, Albert MH, Kałwak K, Barlogis V, Bhatia M, Bordon V, Czogala W, Alonso L, Dogu F, Gozdzik J, Ikinciogullari A, Kriván G, Ljungman P, Meyts I, Mustillo P, Smith AR, Speckmann C, Sundin M, Keogh SJ, Shaw PJ, Boelens JJ, Schulz AS, Sedlacek P, Veys P, Mahlaoui N, Janda A, Davies EG, Fischer A, Cowan MJ, Gennery AR; SCETIDE, PIDTC, EBMT & ESID IEWP. Ferrua F, et al. Among authors: meyts i. J Allergy Clin Immunol. 2019 Jun;143(6):2238-2253. doi: 10.1016/j.jaci.2018.12.1010. Epub 2019 Jan 17. J Allergy Clin Immunol. 2019. PMID: 30660643 Free article.
268 results