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The p53 gene is a critical tumor suppressor that is inactivated in a majority of cancers. The central role of p53 in response to stresses such as DNA damage, hypoxia, and oncogene activation underlies this high frequency of negative selection during tumorigenic transformation. Mutations in p53 disru...

Background

An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes.

Objective

To characterize the clinical and cellular phenotype as well as the management of patients with heterozygous NFKB1 mutations.

Methods

In a worl...
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