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Page 1
Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome.
Riestra MR, Pillay BA, Willemsen M, Kienapfel V, Ehlers L, Delafontaine S, Pinton A, Wouters M, Hombrouck A, Sauer K, Bossuyt X, Voet A, Soenen SJ, Conde CD, Bucciol G, Boztug K, Humblet-Baron S, Touzart A, Rieux-Laucat F, Notarangelo LD, Moens L, Meyts I. Riestra MR, et al. Among authors: willemsen m. J Clin Immunol. 2023 Dec 15;44(1):2. doi: 10.1007/s10875-023-01627-z. J Clin Immunol. 2023. PMID: 38099988
Homozygous DBF4 mutation as a cause of severe congenital neutropenia.
Willemsen M, Barber JS, Nieuwenhove EV, Staels F, Gerbaux M, Neumann J, Prezzemolo T, Pasciuto E, Lagou V, Boeckx N, Filtjens J, De Visscher A, Matthys P, Schrijvers R, Tousseyn T, O'Driscoll M, Bucciol G, Schlenner S, Meyts I, Humblet-Baron S, Liston A. Willemsen M, et al. J Allergy Clin Immunol. 2023 Jul;152(1):266-277. doi: 10.1016/j.jaci.2023.02.016. Epub 2023 Feb 24. J Allergy Clin Immunol. 2023. PMID: 36841265 Free article.
Author Correction: Disrupted Ca2+ homeostasis and immunodeficiency in patients with functional IP3 receptor subtype 3 defects.
Neumann J, Van Nieuwenhove E, Terry LE, Staels F, Knebel TR, Welkenhuyzen K, Ahmadzadeh K, Baker MR, Gerbaux M, Willemsen M, Barber JS, Serysheva II, De Waele L, Vermeulen F, Schlenner S, Meyts I, Yule DI, Bultynck G, Schrijvers R, Humblet-Baron S, Liston A. Neumann J, et al. Among authors: willemsen m. Cell Mol Immunol. 2023 Jan;20(1):114. doi: 10.1038/s41423-022-00960-4. Cell Mol Immunol. 2023. PMID: 36471115 Free PMC article. No abstract available.
DNA replication-associated inborn errors of immunity.
Willemsen M, Staels F, Gerbaux M, Neumann J, Schrijvers R, Meyts I, Humblet-Baron S, Liston A. Willemsen M, et al. J Allergy Clin Immunol. 2023 Feb;151(2):345-360. doi: 10.1016/j.jaci.2022.11.003. Epub 2022 Nov 15. J Allergy Clin Immunol. 2023. PMID: 36395985 Free article. Review.
Disrupted Ca2+ homeostasis and immunodeficiency in patients with functional IP3 receptor subtype 3 defects.
Neumann J, Van Nieuwenhove E, Terry LE, Staels F, Knebel TR, Welkenhuyzen K, Ahmadzadeh K, Baker MR, Gerbaux M, Willemsen M, Barber JS, Serysheva II, De Waele L, Vermeulen F, Schlenner S, Meyts I, Yule DI, Bultynck G, Schrijvers R, Humblet-Baron S, Liston A. Neumann J, et al. Among authors: willemsen m. Cell Mol Immunol. 2023 Jan;20(1):11-25. doi: 10.1038/s41423-022-00928-4. Epub 2022 Oct 27. Cell Mol Immunol. 2023. PMID: 36302985 Free PMC article.
Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations.
Staels F, De Keukeleere K, Kinnunen M, Keskitalo S, Lorenzetti F, Vanmeert M, Prezzemolo T, Pasciuto E, Lescrinier E, Bossuyt X, Gerbaux M, Willemsen M, Neumann J, Van Loo S, Corveleyn A, Willekens K, Stalmans I, Meyts I, Liston A, Humblet-Baron S, Seppänen M, Varjosalo M, Schrijvers R. Staels F, et al. Among authors: willemsen m. Front Immunol. 2022 Sep 20;13:973543. doi: 10.3389/fimmu.2022.973543. eCollection 2022. Front Immunol. 2022. PMID: 36203612 Free PMC article.
A Novel Homozygous Stop Mutation in IL23R Causes Mendelian Susceptibility to Mycobacterial Disease.
Staels F, Lorenzetti F, De Keukeleere K, Willemsen M, Gerbaux M, Neumann J, Tousseyn T, Pasciuto E, De Munter P, Bossuyt X, Gijsbers R, Liston A, Humblet-Baron S, Schrijvers R. Staels F, et al. Among authors: willemsen m. J Clin Immunol. 2022 Nov;42(8):1638-1652. doi: 10.1007/s10875-022-01320-7. Epub 2022 Jul 13. J Clin Immunol. 2022. PMID: 35829840 Free PMC article.
A disease-associated missense mutation in CYP4F3 affects the metabolism of leukotriene B4 via disruption of electron transfer.
Smeets E, Huang S, Lee XY, Van Nieuwenhove E, Helsen C, Handle F, Moris L, El Kharraz S, Eerlings R, Devlies W, Willemsen M, Bücken L, Prezzemolo T, Humblet-Baron S, Voet A, Rochtus A, Van Schepdael A, de Zegher F, Claessens F. Smeets E, et al. Among authors: willemsen m. J Cachexia Sarcopenia Muscle. 2022 Aug;13(4):2242-2253. doi: 10.1002/jcsm.13022. Epub 2022 Jun 9. J Cachexia Sarcopenia Muscle. 2022. PMID: 35686338 Free PMC article.
21 results