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Chou, Janet, MD; Hanna-Wakim, Rima, MD; Tirosh, Irit, MD; Kane, Jennifer, BA; Fraulino, David, BS; Lee, Yu Nee, PhD; Ghanem, Soha, MD; Mahfouz, Iman, MD; Mégarbané, André, MD, PhD; Lefranc, Gérard, PhD; Inati, Adlette, MD; Dbaibo, Ghassan, MD; Giliani, Silvia, PhD; Notarangelo, Luigi D., MD; Geha, Raif S., MD; Massaad, Michel J., PhD
Journal of allergy and clinical immunology, 12/2012, Letnik: 130, Številka: 6Journal Article
Complete deficiency of either RAG1 or RAG2 results in classical severe combined immunodeficiency lacking T and B cells, since RAG1 mediates DNA binding and cleavage, while RAG2 is an essential cofactor for RAG1 function.1 Hypomorphic missense mutations that preserve residual RAG activity and allow the development of oligoclonal T cells, but virtually no B cells, result in recurrent infections, erythroderma, hepatomegaly, colitis, and αβ T-cell expansion (Omenn syndrome).2RAG1/2 mutations can also cause γδ T-cell expansion and immunodeficiency with granulomas.3 Hyper-IgM syndrome is characterized by normal or increased IgM levels with decreased IgG and IgA levels. Because her phenotype was consistent with Omenn syndrome, RAG1 and RAG2 were sequenced.
