A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-B dependent inflammatory response

Germline heterozygous gain-of-function (GOF) mutation of NFKBIA, encoding I kappa B alpha, would affect the activation of NF-kappa B pathway and cause an autosomal dominant (AD) form of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Here we reported a Chinese patient with a heterozygous N-terminal truncation mutation of NFKBIAI/I kappa B alpha. She presented recurrent fever, infectious pneumonia and chronic diarrhea with EDA-ID. Impaired NF-kappa B translocation and IL1R and TLR4 pathway activation were revealed in this patient. The findings suggested that the truncation mutation of I kappa B alpha caused medium impaired of activation of NF-kappa B but the early death. Furthermore, we reviewed all the reported patients with NFKBIA mutation to learn more about this disease. Copyright (C) 2021, Chongqing Medical University. Production and hosting by Elsevier B.V.