Article
Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes.
The Journal of allergy and clinical immunology - 1 Sept 2017
Kaustio Meri, Haapaniemi Emma, Göös Helka, Hautala Timo, Park Giljun, Syrjänen Jaana, Einarsdottir Elisabet, Sahu Biswajyoti, Kilpinen Sanna, Rounioja Samuli, Fogarty Christopher L, Glumoff Virpi, Kulmala Petri, Katayama Shintaro, Tamene Fitsum, Trotta Luca, Morgunova Ekaterina, Krjutškov Kaarel, Nurmi Katariina, Eklund Kari, Lagerstedt Anssi, Helminen Merja, Martelius Timi, Mustjoki Satu, Taipale Jussi, Saarela Janna, Kere Juha, Varjosalo Markku, Seppänen Mikko
Abstract excerpt
BACKGROUND: The nuclear factor κ light-chain enhancer of activated B cells (NF-κB) signaling pathway is a key regulator of immune responses. Accordingly, mutations in several NF-κB pathway genes cause immunodeficiency. OBJECTIVE: We sought to identify the cause of disease in 3 unrelated Finnish kindreds with variable symptoms of immunodeficiency and autoinflammation. METHODS: We applied genetic linkage analysis...
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