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Page 1
Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency.
Alves de Medeiros AK, Lodewick E, Bogaert DJ, Haerynck F, Van Daele S, Lambrecht B, Bosma S, Vanderdonckt L, Lortholary O, Migaud M, Casanova JL, Puel A, Lanternier F, Lambert J, Brochez L, Dullaers M. Alves de Medeiros AK, et al. Among authors: dullaers m. J Clin Immunol. 2016 Apr;36(3):204-9. doi: 10.1007/s10875-016-0255-8. Epub 2016 Mar 9. J Clin Immunol. 2016. PMID: 26961233
Erratum to: Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency.
de Medeiros AK, Lodewick E, Bogaert DJ, Haerynck F, Van Daele S, Lambrecht B, Bosma S, Vanderdonckt L, Lortholary O, Migaud M, Casanova JL, Puel A, Lanternier F, Lambert J, Brochez L, Dullaers M. de Medeiros AK, et al. Among authors: dullaers m. J Clin Immunol. 2016 Jul;36(5):528. doi: 10.1007/s10875-016-0283-4. J Clin Immunol. 2016. PMID: 27116191 No abstract available.
A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation.
De Bruyne M, Hoste L, Bogaert DJ, Van den Bossche L, Tavernier SJ, Parthoens E, Migaud M, Konopnicki D, Yombi JC, Lambrecht BN, van Daele S, Alves de Medeiros AK, Brochez L, Beyaert R, De Baere E, Puel A, Casanova JL, Goffard JC, Savvides SN, Haerynck F, Staal J, Dullaers M. De Bruyne M, et al. Among authors: dullaers m. Front Immunol. 2018 Oct 31;9:2366. doi: 10.3389/fimmu.2018.02366. eCollection 2018. Front Immunol. 2018. PMID: 30429846 Free PMC article.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive TH17 immunity.
De Bruyne M, Bogaert DJ, Venken K, Van den Bossche L, Bonroy C, Roels L, Tavernier SJ, van de Vijver E, Driessen A, van Gijn M, Gámez-Diaz L, Elewaut D, Grimbacher B, Haerynck F, Moes N, Dullaers M. De Bruyne M, et al. Among authors: dullaers m. J Allergy Clin Immunol. 2018 Dec;142(6):1968-1971. doi: 10.1016/j.jaci.2018.08.026. Epub 2018 Sep 5. J Allergy Clin Immunol. 2018. PMID: 30193839 No abstract available.
A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects.
Bogaert DJ, Kuehn HS, Bonroy C, Calvo KR, Dehoorne J, Vanlander AV, De Bruyne M, Cytlak U, Bigley V, De Baets F, De Baere E, Rosenzweig SD, Haerynck F, Dullaers M. Bogaert DJ, et al. Among authors: dullaers m. J Allergy Clin Immunol. 2018 Jan;141(1):432-435.e7. doi: 10.1016/j.jaci.2017.08.019. Epub 2017 Sep 18. J Allergy Clin Immunol. 2018. PMID: 28927821 Free PMC article. No abstract available.
When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF.
Hoste L, De Baets F, Van Daele S, Schelstraete P, Boon M, De Bruyne M, Dullaers M, Coppieters F, Haerynck F. Hoste L, et al. Among authors: dullaers m. Clin Pediatr (Phila). 2018 Jul;57(8):981-985. doi: 10.1177/0009922817733705. Epub 2017 Sep 27. Clin Pediatr (Phila). 2018. PMID: 28952366 No abstract available.
52 results