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Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes

J. Allergy Clin. Immunol.. 2017-09; 
KaustioMeri, HaapaniemiEmma, GöösHelka, HautalaTimo, ParkGiljun, SyrjänenJaana, EinarsdottirElisabet, SahuBiswajyoti, KilpinenSanna, RouniojaSamuli, FogartyChristopher L, GlumoffVirpi, KulmalaPetri, KatayamaShintaro, TameneFitsum, TrottaLuca, MorgunovaEkaterina, KrjutškovKaarel, NurmiKatariina, EklundKari, LagerstedtAnssi, HelminenMerja, MarteliusTimi, MustjokiSatu, TaipaleJussi, SaarelaJanna, KereJuha, VarjosaloMarkku, SeppänenM
Products/Services Used Details Operation
Gene Synthesis … Generation of mutation constructs and cell lines. The wild-type (WT), H67R, and I553M mutant NFKB1 full-length coding sequences were commercially cloned into a Gateway-compatible entry-vector (GenScript, Piscataway, NJ) … Get A Quote

摘要

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.

关键词

B cell，Behçet disease，NFKB1，Nuclear factor κ light-chain enhancer of activated B cells，autoinflammation，hypogammaglobulinemia，p105
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