Severe disease and greater impairment of NF-κB activation in IκBa point mutants versus truncation mutants in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency

Capsule Summary: Higher levels of mutant protein may explain the more severe disease and the impaired development of secondary lymphoid organs in patients with IκBα point mutations, and thereby the poor response of these patients to hematopoietic stem cell transplantation.

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