A Hypomorphic RAG1 Mutation Resulting in a Phenotype Resembling Common Variable Immunodeficiency

BACKGROUND: RAG1 deficiency presents a varied spectrum of combined immunodeficiency, ranging from a T(−)B(−)NK(+)type of disease to a T(+)B(+)NK(+) phenotype. OBJECTIVE: To assess the genetic background of common variable immunodeficiency (CVID) patients. METHODS: A patient diagnosed with CVID, who...

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Détails bibliographiques
Publié dans:J Allergy Clin Immunol
Auteurs principaux: Abolhassani, Hassan, Wang, Ning, Aghamohammadi, Asghar, Rezaei, Nima, Lee, Yu Nee, Frugoni, Francesco, Notrangelo, Luigi D., Pan-Hammarström, Qiang, Hammarström, Lennart
Format: Artigo
Langue:Inglês
Publié: 2014
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4261008/
https://ncbi.nlm.nih.gov/pubmed/24996264
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2014.04.042
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