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US 10,519,501 B2Granted
Common and rare genetic variations associated with common variable immunodeficiency (CVID) and methods of use thereof for the treatment and diagnosis of the same
AssigneeThe Children's Hospital of Philadelphia
InventorsHakon Hakonarson, Joseph Glessner, Jordan Orange
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Abstract
Compositions and methods useful for the diagnosis and treatment of common variable immunodeficiency are disclosed.
Claims2
A solid support for detecting at least one common variable immunodeficiency (CVID)-associated copy number variation (CNV) in a sample comprising immobilized nucleic acid probes or primers of 15 or more nucleotides in length, wherein each of said probes or primers present on said solid support specifically hybridize to CVID specific nucleic acids in chromosomal regions consisting of chr11:
- 85365857-85381622, chr20:
- 57735790-57741780, chr22:
- 17396663-18417315, chr4:
- 10256682-10264316, and chr10:
- 46003146-46042543,
- chr2:
- 148396730-148433180, chr15:
- 35053039-35063531, chr7:
- 91789778-91801963, chr2:
- 163316298-163316595, chr7:
- 87180702-87191931, and, optionally, one or more of chr19:
- 9256584-9277749, chr4:
- 39190766-39201960, chr7:
- 18903915-18905725, chr5:
- 170531269-170536993, chr7:
- 34685030-34686172, and chr1:
- 170400944-170403742.
14 more elements
Dependencies are inferred from the claim text.