Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes

Meri Kaustio; Emma Haapaniemi; Helka Göös; Timo Hautala; Giljun Park; Jaana Syrjänen; Elisabet Einarsdottir; Biswajyoti Sahu; Sanna Kilpinen; Samuli Rounioja; Christopher L. Fogarty; Virpi Glumoff; Petri Kulmala; Shintaro Katayama; Fitsum Tamene; Luca Trotta; Ekaterina Morgunova; Kaarel Krjutskov; Katariina Nurmi; Kari Eklund; Anssi Lagerstedt; Merja Helminen; Timi Martelius; Satu Mustjoki; Jussi Taipale; Janna Saarela; Juha Kere; Markku Varjosalo; Mikko Seppanen

doi:10.1016/j.jaci.2016.10.054

Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes

Meri Kaustio, Emma Haapaniemi, Helka Göös, Timo Hautala, Giljun Park, Jaana Syrjänen, Elisabet Einarsdottir, Biswajyoti Sahu, Sanna Kilpinen, Samuli Rounioja, Christopher L. Fogarty, Virpi Glumoff, Petri Kulmala, Shintaro Katayama, Fitsum Tamene, Luca Trotta, Ekaterina Morgunova, Kaarel Krjutskov, Katariina Nurmi, Kari EklundAnssi Lagerstedt, Merja Helminen, Timi Martelius, Satu Mustjoki, Jussi Taipale, Janna Saarela, Juha Kere, Markku Varjosalo, Mikko Seppanen

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Journal of Allergy and Clinical Immunology
Volym	140
Nummer	3
Sidor (från-till)	782-796
Antal sidor	15
ISSN	0091-6749
DOI	https://doi.org/10.1016/j.jaci.2016.10.054
Status	Publicerad - sep. 2017
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3111 Biomedicinska vetenskaper
3121 Allmänmedicin, inre medicin och annan klinisk medicin

Åtkomst av dokument

10.1016/j.jaci.2016.10.054

Damaging heterozygous mutationsSlutlig publicerad version, 3,96 MB

Citera det här

Kaustio, M., Haapaniemi, E., Göös, H., Hautala, T., Park, G., Syrjänen, J., Einarsdottir, E., Sahu, B., Kilpinen, S., Rounioja, S., Fogarty, C. L., Glumoff, V., Kulmala, P., Katayama, S., Tamene, F., Trotta, L., Morgunova, E., Krjutskov, K., Nurmi, K., ... Seppanen, M. (2017). Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes. Journal of Allergy and Clinical Immunology, 140(3), 782-796. https://doi.org/10.1016/j.jaci.2016.10.054

@article{e461792bbfb14d0f845e5f671ba1330c,

title = "Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes",

keywords = "Nuclear factor k light-chain enhancer of activated B cells, hypogammaglobulinemia, autoinflammation, Behcet disease, NFKB1, p50, p105, B cell, NF-KAPPA-B, COMMON VARIABLE IMMUNODEFICIENCY, ANHIDROTIC ECTODERMAL DYSPLASIA, T-CELLS, BEHCETS-DISEASE, AUTOINFLAMMATORY DISEASE, INTESTINAL HOMEOSTASIS, BACTERIAL-INFECTIONS, DENDRITIC CELLS, P50 SUBUNIT, 3111 Biomedicine, 3121 General medicine, internal medicine and other clinical medicine",

author = "Meri Kaustio and Emma Haapaniemi and Helka G{\"o}{\"o}s and Timo Hautala and Giljun Park and Jaana Syrj{\"a}nen and Elisabet Einarsdottir and Biswajyoti Sahu and Sanna Kilpinen and Samuli Rounioja and Fogarty, {Christopher L.} and Virpi Glumoff and Petri Kulmala and Shintaro Katayama and Fitsum Tamene and Luca Trotta and Ekaterina Morgunova and Kaarel Krjutskov and Katariina Nurmi and Kari Eklund and Anssi Lagerstedt and Merja Helminen and Timi Martelius and Satu Mustjoki and Jussi Taipale and Janna Saarela and Juha Kere and Markku Varjosalo and Mikko Seppanen",

year = "2017",

month = sep,

doi = "10.1016/j.jaci.2016.10.054",

language = "English",

volume = "140",

pages = "782--796",

journal = "Journal of Allergy and Clinical Immunology",

issn = "0091-6749",

publisher = "Mosby Elsevier",

number = "3",

}

Kaustio, M, Haapaniemi, E, Göös, H, Hautala, T, Park, G, Syrjänen, J, Einarsdottir, E , Sahu, B, Kilpinen, S, Rounioja, S, Fogarty, CL, Glumoff, V, Kulmala, P, Katayama, S, Tamene, F, Trotta, L, Morgunova, E, Krjutskov, K, Nurmi, K, Eklund, K, Lagerstedt, A, Helminen, M, Martelius, T , Mustjoki, S , Taipale, J , Saarela, J , Kere, J , Varjosalo, M & Seppanen, M 2017, 'Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes', Journal of Allergy and Clinical Immunology, vol. 140, nr. 3, s. 782-796. https://doi.org/10.1016/j.jaci.2016.10.054

TY - JOUR

T1 - Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes

AU - Kaustio, Meri

AU - Haapaniemi, Emma

AU - Göös, Helka

AU - Hautala, Timo

AU - Park, Giljun

AU - Syrjänen, Jaana

AU - Einarsdottir, Elisabet

AU - Sahu, Biswajyoti

AU - Kilpinen, Sanna

AU - Rounioja, Samuli

AU - Fogarty, Christopher L.

AU - Glumoff, Virpi

AU - Kulmala, Petri

AU - Katayama, Shintaro

AU - Tamene, Fitsum

AU - Trotta, Luca

AU - Morgunova, Ekaterina

AU - Krjutskov, Kaarel

AU - Nurmi, Katariina

AU - Eklund, Kari

AU - Lagerstedt, Anssi

AU - Helminen, Merja

AU - Martelius, Timi

AU - Mustjoki, Satu

AU - Taipale, Jussi

AU - Saarela, Janna

AU - Kere, Juha

AU - Varjosalo, Markku

AU - Seppanen, Mikko

PY - 2017/9

Y1 - 2017/9

KW - Nuclear factor k light-chain enhancer of activated B cells

KW - hypogammaglobulinemia

KW - autoinflammation

KW - Behcet disease

KW - NFKB1

KW - p50

KW - p105

KW - B cell

KW - NF-KAPPA-B

KW - COMMON VARIABLE IMMUNODEFICIENCY

KW - ANHIDROTIC ECTODERMAL DYSPLASIA

KW - T-CELLS

KW - BEHCETS-DISEASE

KW - AUTOINFLAMMATORY DISEASE

KW - INTESTINAL HOMEOSTASIS

KW - BACTERIAL-INFECTIONS

KW - DENDRITIC CELLS

KW - P50 SUBUNIT

KW - 3111 Biomedicine

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

U2 - 10.1016/j.jaci.2016.10.054

DO - 10.1016/j.jaci.2016.10.054

M3 - Article

SN - 0091-6749

VL - 140

SP - 782

EP - 796

JO - Journal of Allergy and Clinical Immunology

JF - Journal of Allergy and Clinical Immunology

IS - 3

ER -