Journal
GENES & DISEASES
Volume 7, Issue 1, Pages 122-127Publisher
ELSEVIER
DOI: 10.1016/j.gendis.2019.10.008
Keywords
Combined immunodeficiency; Inflammatory bowel disease; Mutation; RIPK1
Funding
- National Natural Science Foundation of China [81471482]
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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. Copyright (C) 2019, Chongqing Medical University. Production and hosting by Elsevier B.V.
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