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Review
. 2013 Apr;12(6):687-9.
doi: 10.1016/j.autrev.2012.10.017. Epub 2012 Nov 29.

Chipping away at a mountain: genomic studies in common variable immunodeficiency

Michael D Keller  1 , Soma Jyonouchi
Affiliations
Review

Chipping away at a mountain: genomic studies in common variable immunodeficiency

Michael D Keller et al. Autoimmun Rev. 2013 Apr.

Abstract

Common variable immunodeficiency (CVID) represents one of the most frequently diagnosed disorders of the immune system. Though several causative and associated genes have been identified, the origins of most cases remain unknown. Diagnostic delay is common due to the gradual evolution and wide spectrum of phenotypes, which can include autoimmune disease, enteropathy, and lung disease. A recent genome wide array identified novel gene associations with CVID, and also showed that identification of a genetic signature via a Support Vector Machine algorithm may be a powerful diagnostic tool. Studies utilizing whole genome or exome sequencings have also met with success in identifying new causes of CVID in subgroups of patients.

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