Alkuperäiskielienglanti
LehtiJournal of Allergy and Clinical Immunology
Vuosikerta144
Numero5
Sivut1364-1376
Sivumäärä13
ISSN0091-6749
DOI - pysyväislinkit
TilaJulkaistu - marraskuuta 2019
OKM-julkaisutyyppiA1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Tieteenalat

  • 3121 Sisätaudit

Lainaa tätä

@article{c269b25e0ef240e0bba2d2d39a128ef2,
title = "Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy",
keywords = "Immunologic deficiency syndromes, autoinflammatory diseases, hereditary, chemotaxis, interferons, inflammasomes, NLR family, pyrin domain-containing 3 protein, gain-of-function mutation, neomorphic mutation, BINDING-PROTEIN-EPSILON, GRANULE DEFICIENCY, ABDOMINAL-PAIN, C/EBP-EPSILON, KAPPA-B, ACTIVATION, GENE, DIFFERENTIATION, INFECTION, ATTACKS, 3121 Internal medicine",
author = "Helka G{\"o}{\"o}s and Fogarty, {Christopher L.} and Biswajyoti Sahu and Vincent Plagnol and Kristiina Rajam{\"a}ki and Katariina Nurmi and Xiaonan Liu and Elisabet Einarsdottir and Annukka Jouppila and Tom Pettersson and Helena Vihinen and Kaarel Krjutskov and P{\"a}ivi Saavalainen and Asko J{\"a}rvinen and Mari Muurinen and Dario Greco and Giovanni Scala and James Curtis and Dan Nordstr{\"o}m and Robert Flaumenhaft and Outi Vaarala and Kovanen, {Panu E.} and Salla Keskitalo and Annamari Ranki and Juha Kere and Markku Lehto and Notarangelo, {Luigi D.} and Sergey Nejentsev and Eklund, {Kari K.} and Markku Varjosalo and Jussi Taipale and Seppanen, {Mikko R. J.}",
year = "2019",
month = "11",
doi = "10.1016/j.jaci.2019.06.003",
language = "English",
volume = "144",
pages = "1364--1376",
journal = "Journal of Allergy and Clinical Immunology",
issn = "0091-6749",
publisher = "Mosby Elsevier",
number = "5",

}

TY - JOUR

T1 - Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy

AU - Göös, Helka

AU - Fogarty, Christopher L.

AU - Sahu, Biswajyoti

AU - Plagnol, Vincent

AU - Rajamäki, Kristiina

AU - Nurmi, Katariina

AU - Liu, Xiaonan

AU - Einarsdottir, Elisabet

AU - Jouppila, Annukka

AU - Pettersson, Tom

AU - Vihinen, Helena

AU - Krjutskov, Kaarel

AU - Saavalainen, Päivi

AU - Järvinen, Asko

AU - Muurinen, Mari

AU - Greco, Dario

AU - Scala, Giovanni

AU - Curtis, James

AU - Nordström, Dan

AU - Flaumenhaft, Robert

AU - Vaarala, Outi

AU - Kovanen, Panu E.

AU - Keskitalo, Salla

AU - Ranki, Annamari

AU - Kere, Juha

AU - Lehto, Markku

AU - Notarangelo, Luigi D.

AU - Nejentsev, Sergey

AU - Eklund, Kari K.

AU - Varjosalo, Markku

AU - Taipale, Jussi

AU - Seppanen, Mikko R. J.

PY - 2019/11

Y1 - 2019/11

KW - Immunologic deficiency syndromes

KW - autoinflammatory diseases

KW - hereditary

KW - chemotaxis

KW - interferons

KW - inflammasomes

KW - NLR family

KW - pyrin domain-containing 3 protein

KW - gain-of-function mutation

KW - neomorphic mutation

KW - BINDING-PROTEIN-EPSILON

KW - GRANULE DEFICIENCY

KW - ABDOMINAL-PAIN

KW - C/EBP-EPSILON

KW - KAPPA-B

KW - ACTIVATION

KW - GENE

KW - DIFFERENTIATION

KW - INFECTION

KW - ATTACKS

KW - 3121 Internal medicine

U2 - 10.1016/j.jaci.2019.06.003

DO - 10.1016/j.jaci.2019.06.003

M3 - Article

VL - 144

SP - 1364

EP - 1376

JO - Journal of Allergy and Clinical Immunology

JF - Journal of Allergy and Clinical Immunology

SN - 0091-6749

IS - 5

ER -