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

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year = "2023",

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

language = "English",

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journal = "Clinical Immunology",

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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 -