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

Accumulating evidence indicates that is associated with inflammation and apoptotic. deficiency leads to proinflammatory signaling impaired. However, only few patients with homozygous loss-of-function mutation in 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 gene, which were confirmed by Sanger sequencing. Our study reports novel mutations in gene and new phenotype of patient with deficiency.