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

Li Lin; Ying Wang; Luyao Liu; Wenjing Ying; Wenjie Wang; Bijun Sun; Jinqiao Sun; Xiaochuan Wang

doi:10.1016/j.gendis.2019.10.008

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

更新时间：2022-06-24

- Clinical phenotype of a Chinese patient with RIPK1 deficiency due to novel mutation
- Genes & Diseases Vol. 7, Issue 1, (2020)
- 作者机构：
  
  Department of Clinical Immunology, Children's Hospital of Fudan University,Shanghai,China,201102
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2019.10.008
  CLC：
- Published：2020，
  
  Published Online：1 March 2020，
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Li Lin, Ying Wang, Luyao Liu, et al. Clinical phenotype of a Chinese patient with RIPK1 deficiency due to novel mutation. [J]. Genes & Diseases 7(1).(2020)
DOI：

Li Lin, Ying Wang, Luyao Liu, et al. Clinical phenotype of a Chinese patient with RIPK1 deficiency due to novel mutation. [J]. Genes & Diseases 7(1).(2020) DOI： 10.1016/j.gendis.2019.10.008.

摘要

Abstract

umulating 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.

关键词

Keywords

Combined immunodeficiencyInflammatory bowel diseaseMutationRIPK1

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