Article
Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.
Journal of clinical immunology - 1 Feb 2015
Buchbinder David, Baker Rebecca, Lee Yu Nee, Ravell Juan, Zhang Yu, McElwee Joshua, Nugent Diane, Coonrod Emily M, Durtschi Jacob D, Augustine Nancy H, Voelkerding Karl V, Csomos Krisztian, Rosen Lindsey, Browne Sarah, Walter Jolan E, Notarangelo Luigi D, Hill Harry R, Kumánovics Attila
Abstract excerpt
PURPOSE: Combined immunodeficiency (CID) presents a unique challenge to clinicians. Two patients presented with the prior clinical diagnosis of common variable immunodeficiency (CVID) disorder marked by an early age of presentation, opportunistic infections, and persistent lymphopenia. Due to the presence of atypical clinical features, next generation sequencing was applied documenting RAG deficiency in both...
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