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 transplantation (HSCT) in these patients is poor despite good engraftment. Mice heterozygous for the IκBα S32I mutation...
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