Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations

Frederik Staels; Kerstin De Keukeleere; Matias Kinnunen; Salla Keskitalo; Flaminia Lorenzetti; Michiel Vanmeert; Teresa Prezzemolo; Emanuela Pasciuto; Eveline Lescrinier; Xavier Bossuyt; Margaux Gerbaux; Mathijs Willemsen; Julika Neumann; Sien Van Loo; Anniek Corveleyn; Karen Willekens; Ingeborg Stalmans; Isabelle Meyts; Adrian Liston; Stephanie Humblet-Baron; Mikko Seppänen; Markku Varjosalo; Rik Schrijvers

doi:10.3389/fimmu.2022.973543

Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations

Frederik Staels, Kerstin De Keukeleere, Matias Kinnunen, Salla Keskitalo, Flaminia Lorenzetti, Michiel Vanmeert, Teresa Prezzemolo, Emanuela Pasciuto, Eveline Lescrinier, Xavier Bossuyt, Margaux Gerbaux, Mathijs Willemsen, Julika Neumann, Sien Van Loo, Anniek Corveleyn, Karen Willekens, Ingeborg Stalmans, Isabelle Meyts, Adrian Liston, Stephanie Humblet-BaronMikko Seppänen, Markku Varjosalo, Rik Schrijvers

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

Alkuperäiskieli	englanti
Artikkeli	973543
Lehti	Frontiers in Immunology
Vuosikerta	13
Sivumäärä	17
ISSN	1664-3224
DOI - pysyväislinkit	https://doi.org/10.3389/fimmu.2022.973543
Tila	Julkaistu - 20 syysk. 2022
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Tieteenalat

3121 Yleislääketiede, sisätaudit ja muut kliiniset lääketieteet

Pääsy asiakirjaan

10.3389/fimmu.2022.973543

fimmu-13-973543 (1)Lopullinen julkaistu versio, 6,95 MBLisenssi: CC BY

Siteeraa tätä

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., ... Schrijvers, R. (2022). Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations. Frontiers in Immunology, 13, Artikkeli 973543. https://doi.org/10.3389/fimmu.2022.973543

@article{57c1ea421c294197942a398a4265debf,

title = "Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations",

keywords = "primary immunodeficiency, functional validation, novel mutation, Nfkb1 (p50), haploinsufficiency, NF-KAPPA-B, NF-KAPPA-B1, HYDROXYLATION, 3121 General medicine, internal medicine and other clinical medicine",

author = "Frederik Staels and {De Keukeleere}, Kerstin and Matias Kinnunen and Salla Keskitalo and Flaminia Lorenzetti and Michiel Vanmeert and Teresa Prezzemolo and Emanuela Pasciuto and Eveline Lescrinier and Xavier Bossuyt and Margaux Gerbaux and Mathijs Willemsen and Julika Neumann and {Van Loo}, Sien and Anniek Corveleyn and Karen Willekens and Ingeborg Stalmans and Isabelle Meyts and Adrian Liston and Stephanie Humblet-Baron and Mikko Sepp{\"a}nen and Markku Varjosalo and Rik Schrijvers",

year = "2022",

month = sep,

day = "20",

doi = "10.3389/fimmu.2022.973543",

language = "English",

volume = "13",

journal = "Frontiers in Immunology",

issn = "1664-3224",

publisher = "Frontiers Media",

}

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 2022, 'Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations', Frontiers in Immunology, Vuosikerta 13, 973543. https://doi.org/10.3389/fimmu.2022.973543

TY - JOUR

T1 - Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations

AU - Staels, Frederik

AU - De Keukeleere, Kerstin

AU - Kinnunen, Matias

AU - Keskitalo, Salla

AU - Lorenzetti, Flaminia

AU - Vanmeert, Michiel

AU - Prezzemolo, Teresa

AU - Pasciuto, Emanuela

AU - Lescrinier, Eveline

AU - Bossuyt, Xavier

AU - Gerbaux, Margaux

AU - Willemsen, Mathijs

AU - Neumann, Julika

AU - Van Loo, Sien

AU - Corveleyn, Anniek

AU - Willekens, Karen

AU - Stalmans, Ingeborg

AU - Meyts, Isabelle

AU - Liston, Adrian

AU - Humblet-Baron, Stephanie

AU - Seppänen, Mikko

AU - Varjosalo, Markku

AU - Schrijvers, Rik

PY - 2022/9/20

Y1 - 2022/9/20

KW - primary immunodeficiency

KW - functional validation

KW - novel mutation

KW - Nfkb1 (p50)

KW - haploinsufficiency

KW - NF-KAPPA-B

KW - NF-KAPPA-B1

KW - HYDROXYLATION

KW - 3121 General medicine, internal medicine and other clinical medicine

U2 - 10.3389/fimmu.2022.973543

DO - 10.3389/fimmu.2022.973543

M3 - Article

SN - 1664-3224

VL - 13

JO - Frontiers in Immunology

JF - Frontiers in Immunology

M1 - 973543

ER -