Clinical phenotype of a Chinese patient with RIPK1 deficiency due to novel mutation

Publication date: Available online 21 October 2019Source: Genes & DiseasesAuthor(s): Jinqiao Sun, Xiaochuan WangAbstractAccumulating evidence indicates that RIPK1 is associated with inflammation and apoptotic. RIPK1 deficiency leads to proinflammatory signaling impaired. However, only few patients with homozygous loss-of-function mutation in RIPK1 gene had been reported until now. Here, we report a Chinese combined immunodeficiency patient. He had recurrent infection, diarrhea after 3 months old. Immune function indicated that T, B and NK cells decreased significantly but immunoglobulins approximately remained normal. Whole-exome sequencing indicated that he had novel compound heterozygous mutations (c.998 C>A from his mother and c.1934 C>T from his father) in RIPK1 gene, which were confirmed by Sanger sequencing. Our study reports novel mutations in RIPK1 gene and new phenotype of patient with RIPK1 deficiency.

Source: Genes and Diseases - October 22, 2019 Category: Genetics & Stem Cells Source Type: research