Common Variable Immunodeficiency with Genetic Defects Identified by Whole Exome Sequencing

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Common Variable Immunodeficiency with Genetic Defects Identified by Whole Exome Sequencing

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scientific article published on 30 September 2018

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wetenschappelijk artikel

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наукова стаття, опублікована у 2018

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Common Variable Immunodeficien ...... fied by Whole Exome Sequencing

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Common Variable Immunodeficien ...... fied by Whole Exome Sequencing

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Common Variable Immunodeficien ...... fied by Whole Exome Sequencing

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Common Variable Immunodeficien ...... fied by Whole Exome Sequencing

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Common Variable Immunodeficien ...... fied by Whole Exome Sequencing

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Common Variable Immunodeficien ...... fied by Whole Exome Sequencing

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Common Variable Immunodeficien ...... fied by Whole Exome Sequencing

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Donghong Yang

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Fang Wang

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Rongbao Zhang

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Xinlin Mu

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Yanliang Ma

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Yuqian Li

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Zhaolong Cao

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International Consensus Document (ICON): Common Variable Immunodeficiency Disorders

Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity

Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy

The Sequence Alignment/Map format and SAMtools

Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)

TACI is mutant in common variable immunodeficiency and IgA deficiency

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Fast and accurate long-read alignment with Burrows-Wheeler transform

SIFT: Predicting amino acid changes that affect protein function

A general framework for estimating the relative pathogenicity of human genetic variants

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3724630

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scholarly article

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10.1155/2018/3724630

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English

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2018

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Ya-Li Zheng

Ran Li

Zhancheng Gao

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2018-09-30T00:00:00Z

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30363934

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6186323

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