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Title:          Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond
Subject:        Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines.
Keywords:       common variable immunodeficiency, primary immunodeficiency, exome sequencing, loss-of-function, rare disease genetics
Author:         Manel Juan and Ferran Casals
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      Title: Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond
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       Item: 
        Title: Introduction
       Item: 
        Title: Materials and Methods
        Children: 
         Item: 
          Title: Individuals Included in the Study
         Item: 
          Title: Genetic Analyses
         Item: 
          Title: Genetic Data and Statistical Analyses
         Item: 
          Title: Functional Validations
       Item: 
        Title: Results
        Children: 
         Item: 
          Title: OMIM CVID-Causing Mutations
         Item: 
          Title: Loss-of-Function (LoF) Variants
         Item: 
          Title: Functional Genetic Variation at Candidate Genes for CVID
         Item: 
          Title: Compound Heterozygotes 
at Non-CVID Genes
         Item: 
          Title: Oligogenic Disease
         Item: 
          Title: Association to Rare Variants
       Item: 
        Title: Discussion
       Item: 
        Title: Ethics Statement
       Item: 
        Title: Author Contributions
       Item: 
        Title: Acknowledgments
       Item: 
        Title: Funding
       Item: 
        Title: Supplementary Material
       Item: 
        Title: References
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    Title: Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond
    Author: Manel Juan and Ferran Casals
    Subject: Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines.
    Keywords: common variable immunodeficiency, primary immunodeficiency, exome sequencing, loss-of-function, rare disease genetics
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  Checksum: fbfc8f2877cdce2e7bbde7f0f8331136e4891596
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