Identification of Patients with RAG Mutations Previously Diagnosed with Common Variable Immunodeficiency Disorders

@article{Buchbinder2014IdentificationOP,
  title={Identification of Patients with RAG Mutations Previously Diagnosed with Common Variable Immunodeficiency Disorders},
  author={David Buchbinder and Rebecca E. Baker and Yu Nee Lee and Juan Carlos Ravell and Yu Zhang and Joshua J McElwee and Diane Nugent and Emily M. Coonrod and Jacob Durtschi and Nancy H. Augustine and Karl V. Voelkerding and Krisztian Csomos and Lindsey B. Rosen and Sarah Anne Browne and Jolan Walter and Luigi D Notarangelo and Harry Raymond Hill and Attila Kum{\'a}novics},
  journal={Journal of Clinical Immunology},
  year={2014},
  volume={35},
  pages={119-124}
}
PurposeCombined 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 patients.MethodsTwo different genetic analysis techniques were applied in these patients… CONTINUE READING
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