Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity
LA Henderson, F Frugoni, G Hopkins… - Journal of allergy and …, 2013 - jacionline.org
To the Editor: Lymphocyte receptor diversity is generated by recombining variable, diversity,
and joining (VDJ) gene segments of the immunoglobulin and T-cell receptor (TCR) loci. V
(D) J recombination requires DNA breakage, a process mediated by recombination-
activating gene (RAG) 1 and 2. RAG deficiency was initially described in patients with the Tj
Bj severe combined immunodeficiency (SCID) phenotype 1; however, the spectrum of the
disease has expanded to include Omenn syndrome, cytomegalovirus infection with gd T-cell …
and joining (VDJ) gene segments of the immunoglobulin and T-cell receptor (TCR) loci. V
(D) J recombination requires DNA breakage, a process mediated by recombination-
activating gene (RAG) 1 and 2. RAG deficiency was initially described in patients with the Tj
Bj severe combined immunodeficiency (SCID) phenotype 1; however, the spectrum of the
disease has expanded to include Omenn syndrome, cytomegalovirus infection with gd T-cell …