Genes & Diseases ( IF 6.8 ) Pub Date : 2021-04-03 , DOI: 10.1016/j.gendis.2021.03.005 Wen Wen 1, 2, 3, 4, 5, 6 , Li Wang 1, 2, 3, 4, 5, 6, 7 , Mengyue Deng 1, 2, 3, 4, 5, 6 , Yue Li 1, 2, 3, 4, 5, 6 , Xuemei Tang 1, 2, 3, 4, 5, 6, 7 , Huawei Mao 1, 2, 3, 4, 5, 6, 7 , Xiaodong Zhao 1, 2, 3, 4, 5, 6, 7
Germline heterozygous gain-of-function (GOF) mutation of NFKBIA, encoding IκBα, would affect the activation of NF-κB 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 NFKBIA/IκBα. She presented recurrent fever, infectious pneumonia and chronic diarrhea with EDA-ID. Impaired NF-κB translocation and IL1R and TLR4 pathway activation were revealed in this patient. The findings suggested that the truncation mutation of IκBα caused medium impaired of activation of NF-κB but the early death. Furthermore, we reviewed all the reported patients with NFKBIA mutation to learn more about this disease.
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