Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae

Elina A. Tuovinen; Outi Kuismin; Leila Soikkonen; Timi Martelius; Meri Kaustio; Sari Hämäläinen; Hanna Viskari; Jaana Syrjänen; Ulla Wartiovaara-Kautto; Kari K. Eklund; Janna Saarela; Markku Varjosalo; Juha Kere; Timo Hautala; Mikko R.J. Seppänen

doi:10.1016/j.clim.2022.109181

Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae

Elina A. Tuovinen, Outi Kuismin, Leila Soikkonen, Timi Martelius, Meri Kaustio, Sari Hämäläinen, Hanna Viskari, Jaana Syrjänen, Ulla Wartiovaara-Kautto, Kari K. Eklund, Janna Saarela, Markku Varjosalo, Juha Kere, Timo Hautala, Mikko R.J. Seppänen

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Article number	109181
Journal	Clinical Immunology
Volume	246
Number of pages	5
ISSN	1521-6616
DOIs	https://doi.org/10.1016/j.clim.2022.109181
Publication status	Published - Jan 2023
MoE publication type	A1 Journal article-refereed

Bibliographical note

Publisher Copyright:
© 2022 The Authors

Fields of Science

Autoinflammation
Common variable immunodeficiency
Hypogammaglobulinemia
Inborn errors of immunity
NFKB1
1184 Genetics, developmental biology, physiology

Access to Document

10.1016/j.clim.2022.109181

1-s2.0-S1521661622002625-mainFinal published version, 534 KBLicence: CC BY

Cite this

Tuovinen, E. A., Kuismin, O., Soikkonen, L., Martelius, T., Kaustio, M., Hämäläinen, S., Viskari, H., Syrjänen, J., Wartiovaara-Kautto, U., Eklund, K. K., Saarela, J., Varjosalo, M., Kere, J., Hautala, T., & Seppänen, M. R. J. (2023). Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae. Clinical Immunology, 246, Article 109181. https://doi.org/10.1016/j.clim.2022.109181

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author = "Tuovinen, {Elina A.} and Outi Kuismin and Leila Soikkonen and Timi Martelius and Meri Kaustio and Sari H{\"a}m{\"a}l{\"a}inen and Hanna Viskari and Jaana Syrj{\"a}nen and Ulla Wartiovaara-Kautto and Eklund, {Kari K.} and Janna Saarela and Markku Varjosalo and Juha Kere and Timo Hautala and Sepp{\"a}nen, {Mikko R.J.}",

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year = "2023",

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doi = "10.1016/j.clim.2022.109181",

language = "English",

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Tuovinen, EA, Kuismin, O, Soikkonen, L, Martelius, T , Kaustio, M, Hämäläinen, S, Viskari, H, Syrjänen, J, Wartiovaara-Kautto, U , Eklund, KK , Saarela, J , Varjosalo, M , Kere, J, Hautala, T & Seppänen, MRJ 2023, 'Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae', Clinical Immunology, vol. 246, 109181. https://doi.org/10.1016/j.clim.2022.109181

TY - JOUR

T1 - Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae

AU - Tuovinen, Elina A.

AU - Kuismin, Outi

AU - Soikkonen, Leila

AU - Martelius, Timi

AU - Kaustio, Meri

AU - Hämäläinen, Sari

AU - Viskari, Hanna

AU - Syrjänen, Jaana

AU - Wartiovaara-Kautto, Ulla

AU - Eklund, Kari K.

AU - Saarela, Janna

AU - Varjosalo, Markku

AU - Kere, Juha

AU - Hautala, Timo

AU - Seppänen, Mikko R.J.

PY - 2023/1

Y1 - 2023/1

KW - Autoinflammation

KW - Common variable immunodeficiency

KW - Hypogammaglobulinemia

KW - Inborn errors of immunity

KW - NFKB1

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1016/j.clim.2022.109181

DO - 10.1016/j.clim.2022.109181

M3 - Article

C2 - 36356849

AN - SCOPUS:85142516864

SN - 1521-6616

VL - 246

JO - Clinical Immunology

JF - Clinical Immunology

M1 - 109181

ER -