A nonsense mutation in IKBKB causes combined immunodeficiency

Identification of the molecular etiologies of primary immunodeficiencies has led to important insights into the development and function of the immune system. We report here the cause of combined immunodeficiency in 4 patients from 2 different consanguineous Qatari families with similar clinical and...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Blood
Päätekijät: Mousallem, Talal, Yang, Jialong, Urban, Thomas J., Wang, Hongxia, Adeli, Mehdi, Parrott, Roberta E., Roberts, Joseph L., Goldstein, David B., Buckley, Rebecca H., Zhong, Xiao-Ping
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society of Hematology 2014
Aiheet:
Immunobiology
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4260362/
https://ncbi.nlm.nih.gov/pubmed/25139357
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2014-04-571265
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