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Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
Schuermans N, Hemelsoet D, Terryn W, Steyaert S, Van Coster R, Coucke PJ, Steyaert W, Callewaert B, Bogaert E, Verloo P, Vanlander AV, Debackere E, Ghijsels J, LeBlanc P, Verdin H, Naesens L, Haerynck F, Callens S, Dermaut B, Poppe B; for UD-PrOZA. Schuermans N, et al. Among authors: haerynck f. Orphanet J Rare Dis. 2022 May 23;17(1):210. doi: 10.1186/s13023-022-02365-y. Orphanet J Rare Dis. 2022. PMID: 35606766 Free PMC article.
Limbic encephalitis as presentation of a SAP deficiency.
Verhelst H, Van Coster R, Bockaert N, Laureys G, Latour S, Fischer A, Haerynck F. Verhelst H, et al. Among authors: haerynck f. Neurology. 2007 Jul 10;69(2):218-9. doi: 10.1212/01.wnl.0000265597.56202.6c. Neurology. 2007. PMID: 17620557 No abstract available.
Birdshot-like chorioretinopathy in common variable immunodeficiency.
de Maeyer V, Leroy BP, Kerre T, Ferdinande L, Haerynck F, De Baets F, Kestelyn P. de Maeyer V, et al. Among authors: haerynck f. Retin Cases Brief Rep. 2012 Fall;6(4):358-64. doi: 10.1097/ICB.0b013e31824f71c8. Retin Cases Brief Rep. 2012. PMID: 25389930
The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives.
Bogaert DJ, De Bruyne M, Debacker V, Depuydt P, De Preter K, Bonroy C, Philippé J, Bordon V, Lambrecht BN, Kerre T, Cerutti A, Vermaelen KY, Haerynck F, Dullaers M. Bogaert DJ, et al. Among authors: haerynck f. Haematologica. 2017 Jan;102(1):192-202. doi: 10.3324/haematol.2016.149112. Epub 2016 Sep 15. Haematologica. 2017. PMID: 27634199 Free PMC article.
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: haerynck f. 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.
A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation.
Tavernier SJ, Athanasopoulos V, Verloo P, Behrens G, Staal J, Bogaert DJ, Naesens L, De Bruyne M, Van Gassen S, Parthoens E, Ellyard J, Cappello J, Morris LX, Van Gorp H, Van Isterdael G, Saeys Y, Lamkanfi M, Schelstraete P, Dehoorne J, Bordon V, Van Coster R, Lambrecht BN, Menten B, Beyaert R, Vinuesa CG, Heissmeyer V, Dullaers M, Haerynck F. Tavernier SJ, et al. Among authors: haerynck f. Nat Commun. 2019 Oct 21;10(1):4779. doi: 10.1038/s41467-019-12704-6. Nat Commun. 2019. PMID: 31636267 Free PMC article.
Author Correction: A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation.
Tavernier SJ, Athanasopoulos V, Verloo P, Behrens G, Staal J, Bogaert DJ, Naesens L, De Bruyne M, Van Gassen S, Parthoens E, Ellyard J, Cappello J, Morris LX, Van Gorp H, Van Isterdael G, Saeys Y, Lamkanfi M, Schelstraete P, Dehoorne J, Bordon V, Van Coster R, Lambrecht BN, Menten B, Beyaert R, Vinuesa CG, Heissmeyer V, Dullaers M, Haerynck F. Tavernier SJ, et al. Among authors: haerynck f. Nat Commun. 2019 Nov 20;10(1):5337. doi: 10.1038/s41467-019-13379-9. Nat Commun. 2019. PMID: 31745085 Free PMC article.
129 results