부산대학교 도서관

This letter, published in the Journal of Clinical Immunology, discusses a case study of a patient with an NFKBIA gene mutation, which is associated with an immunodeficiency disease called anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). The patient exhibited various clinical manifestations, including ectodermal dysplasia, recurrent infections, and autoimmune diseases. The study found that the NFKBIA gene mutation led to defective T-cell function, as evidenced by impaired T-cell proliferation and cytokine production. The authors suggest that this research contributes to a better understanding of the role of the NFKBIA gene in T-cell function and highlights the need for further study in this area. [Extracted from the article]