Accumulating 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...Accumulating 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.展开更多
基金This study was supported by the National Natural Science Foundation of China(81471482).We thank the patient and his parents for their cooperation。
文摘Accumulating 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.
