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Page 1
Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.
Drutman SB, Haerynck F, Zhong FL, Hum D, Hernandez NJ, Belkaya S, Rapaport F, de Jong SJ, Creytens D, Tavernier SJ, Bonte K, De Schepper S, van der Werff Ten Bosch J, Lorenzo-Diaz L, Wullaert A, Bossuyt X, Orth G, Bonagura VR, Béziat V, Abel L, Jouanguy E, Reversade B, Casanova JL. Drutman SB, et al. Among authors: haerynck f. Proc Natl Acad Sci U S A. 2019 Sep 17;116(38):19055-19063. doi: 10.1073/pnas.1906184116. Epub 2019 Sep 4. Proc Natl Acad Sci U S A. 2019. PMID: 31484767 Free PMC article.
Clinical practice of hereditary angioedema in Belgium: opportunities for optimized care.
Ebo DG, Van der Poorten MM, Van Gasse AL, Schrijvers R, Hermans C, Bartiaux M, Haerynck F, Willekens J, Lapeere H, Moutschen M, Michel O, Sabato V. Ebo DG, et al. Among authors: haerynck f. Acta Clin Belg. 2023 Dec;78(6):431-437. doi: 10.1080/17843286.2023.2213491. Epub 2023 May 27. Acta Clin Belg. 2023. PMID: 37243680
Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.
Schaballie H, Renard M, Vermylen C, Scheers I, Revencu N, Regal L, Cassiman D, Sevenants L, Hoffman I, Corveleyn A, Bordon V, Haerynck F, Allegaert K, De Boeck K, Roskams T, Boeckx N, Bossuyt X, Meyts I. Schaballie H, et al. Among authors: haerynck f. Eur J Pediatr. 2013 May;172(5):613-22. doi: 10.1007/s00431-012-1908-0. Epub 2013 Jan 12. Eur J Pediatr. 2013. PMID: 23315050
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: haerynck f. 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
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.
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: haerynck f. J Clin Immunol. 2016 Jul;36(5):528. doi: 10.1007/s10875-016-0283-4. J Clin Immunol. 2016. PMID: 27116191 No abstract available.
Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation.
Van Gorp H, Saavedra PH, de Vasconcelos NM, Van Opdenbosch N, Vande Walle L, Matusiak M, Prencipe G, Insalaco A, Van Hauwermeiren F, Demon D, Bogaert DJ, Dullaers M, De Baere E, Hochepied T, Dehoorne J, Vermaelen KY, Haerynck F, De Benedetti F, Lamkanfi M. Van Gorp H, et al. Among authors: haerynck f. Proc Natl Acad Sci U S A. 2016 Dec 13;113(50):14384-14389. doi: 10.1073/pnas.1613156113. Epub 2016 Nov 22. Proc Natl Acad Sci U S A. 2016. PMID: 27911804 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: haerynck f. 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 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: haerynck f. Front Immunol. 2018 Oct 31;9:2366. doi: 10.3389/fimmu.2018.02366. eCollection 2018. Front Immunol. 2018. PMID: 30429846 Free PMC article.
129 results