Patent ID: 9109254
Filing Date: 2015-08-18
Classification: A61K,C12Q,G01N,G16B,G16C

Abstract:
1. A method for treating common variable immunodeficiency (CVID) in a human subject, comprising: a) obtaining genotype sequence information from sequencing a nucleic acid from said subject; b) detecting in said information the presence of at least one CVID-associated copy number variation (CNV), wherein said at least one CVID-associated CNV: is selected from the group consisting of deletions comprising: chr11: 85365857-85381622; chr20: 57735790-57741780; chr22: 17396663-18417315; chr4: 10256682-10264316; chr10: 46003146-46042543; or is selected from the group consisting of duplications comprising: chr2: 148396730-148433180; chr15: 35053039-35063531; chr7: 91789778-91801963; chr2: 163316298-163316595; chr7: 87180702-87191931; chr19: 9256584-9277749; chr4: 39190766-39201960; chr7: 18903915-18905725; chr5: 170531269-170536993; chr7: 34685030-34686172; chr1: 170400944-170403742; c) correlating the presence of the detected CVID-associated CNV with a diagnosis of CVID in the subject; and d) administering to said human subject a therapeutically effective amount of at least one pharmaceutical agent useful for the treatment of CVID symptoms.