Common and Rare Genetic Variations Associated with Common Variable Immunodeficiency (CVID) and Methods of Use Thereof for the Treatment and Diagnosis of the Same

摘要

Compositions and methods useful for the diagnosis and treatment of common variable immunodeficiency are disclosed.

主权项

1. A method for detecting an increased risk for developing common variable immunodeficiency disorder (CVID) in a test subject, comprising obtaining a nucleic acid sample from said subject and determining whether said sample contains at least one informative SNP indicative of the presence of a OVID associated single SNP or copy number variation (CNV), wherein if said SNP is detected, said patient has an increased risk for developing CVID, wherein said SNP containing nucleic acid is selected from the group of SNPs consisting of those provided in Tables 1-5 and the SNP present in IFR2BP2.