Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity

Primary immunodeficiency disorders enable identification of genes with crucial roles in the human immune system. Here we study patients suffering from recurrent bacterial, viral and Cryptosporidium infections, and identify a biallelic mutation in the MAP3K14 gene encoding NIK (NF-κB-inducing kinase)...

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Detalles Bibliográficos
Autores principales: Willmann, Katharina L., Klaver, Stefanie, Doğu, Figen, Santos-Valente, Elisangela, Garncarz, Wojciech, Bilic, Ivan, Mace, Emily, Salzer, Elisabeth, Domínguez Conde, Cecilia, Sic, Heiko, Májek, Peter, Banerjee, Pinaki P., Vladimer, Gregory I., Haskoloğlu, Şule, Gökalp Bolkent, Musa, Küpesiz, Alphan, Condino-Neto, Antonio, Colinge, Jacques, Superti-Furga, Giulio, Pickl, Winfried F., van Zelm, Menno C., Eibel, Hermann, Orange, Jordan S., Ikincioğulları, Aydan, Boztuğ, Kaan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Pub. Group 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4263125/
https://www.ncbi.nlm.nih.gov/pubmed/25406581
http://dx.doi.org/10.1038/ncomms6360

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