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

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Main Authors:	Li Lin, Ying Wang, Luyao Liu, Wenjing Ying, Wenjie Wang, Bijun Sun, Jinqiao Sun, Xiaochuan Wang
Format:	Article
Language:	English
Published:	Elsevier 2020-03-01
Series:	Genes and Diseases
Online Access:	http://www.sciencedirect.com/science/article/pii/S2352304219300959

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spelling	doaj-d2c3f65ea54743848fa8e4006e4e424f2020-11-25T02:29:33ZengElsevierGenes and Diseases2352-30422020-03-0171122127Clinical phenotype of a Chinese patient with RIPK1 deficiency due to novel mutationLi Lin0Ying Wang1Luyao Liu2Wenjing Ying3Wenjie Wang4Bijun Sun5Jinqiao Sun6Xiaochuan Wang7Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, 201102, ChinaDepartment of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, 201102, ChinaDepartment of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, 201102, ChinaDepartment of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, 201102, ChinaDepartment of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, 201102, ChinaDepartment of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, 201102, ChinaCorresponding author. 399 Wanyuan Road, Shanghai, 201102, China. Fax: 021 86 64931003.; Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, 201102, ChinaCorresponding author. 399 Wanyuan Road, Shanghai, 201102, China. Fax: 021 86 64931003.; Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, 201102, ChinaAccumulating 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. Keywords: Combined immunodeficiency, Inflammatory bowel disease, Mutation, RIPK1http://www.sciencedirect.com/science/article/pii/S2352304219300959
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Li Lin Ying Wang Luyao Liu Wenjing Ying Wenjie Wang Bijun Sun Jinqiao Sun Xiaochuan Wang
spellingShingle	Li Lin Ying Wang Luyao Liu Wenjing Ying Wenjie Wang Bijun Sun Jinqiao Sun Xiaochuan Wang Clinical phenotype of a Chinese patient with RIPK1 deficiency due to novel mutation Genes and Diseases
author_facet	Li Lin Ying Wang Luyao Liu Wenjing Ying Wenjie Wang Bijun Sun Jinqiao Sun Xiaochuan Wang
author_sort	Li Lin
title	Clinical phenotype of a Chinese patient with RIPK1 deficiency due to novel mutation
title_short	Clinical phenotype of a Chinese patient with RIPK1 deficiency due to novel mutation
title_full	Clinical phenotype of a Chinese patient with RIPK1 deficiency due to novel mutation
title_fullStr	Clinical phenotype of a Chinese patient with RIPK1 deficiency due to novel mutation
title_full_unstemmed	Clinical phenotype of a Chinese patient with RIPK1 deficiency due to novel mutation
title_sort	clinical phenotype of a chinese patient with ripk1 deficiency due to novel mutation
publisher	Elsevier
series	Genes and Diseases
issn	2352-3042
publishDate	2020-03-01
description	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. Keywords: Combined immunodeficiency, Inflammatory bowel disease, Mutation, RIPK1
url	http://www.sciencedirect.com/science/article/pii/S2352304219300959
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Clinical phenotype of a Chinese patient with RIPK1 deficiency due to novel mutation

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