Article
Defective lymphoid organogenesis underlies the immune deficiency caused by a heterozygous S32I mutation in IκBα.
The Journal of experimental medicine - 9 Feb 2015
Mooster Jana L, Le Bras Severine, Massaad Michel J, Jabara Haifa, Yoon Juhan, Galand Claire, Heesters Balthasar A, Burton Oliver T, Mattoo Hamid, Manis John, Geha Raif S
Abstract excerpt
Patients with ectodermal dysplasia with immunodeficiency (ED-ID) caused by mutations in the inhibitor of NF-κB α (IκBα) are susceptible to severe recurrent infections, despite normal T and B cell numbers and intact in vitro lymphocyte function. Moreover, the outcome of hematopoietic stem cell tra...
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