RAG1 deficiency may present clinically as selective IgA deficiency

Journal of Clinical Immunology
Tamaki KatoShigeaki Nonoyama

Abstract

Recombination-activating gene (RAG) 1 and 2 deficiency is seen in patients with severe combined immunodeficiency (SCID) and Omenn syndrome. However, the spectrum of the disease has recently expanded to include a milder phenotype. We analyzed a 4-year-old boy who was initially given the diagnosis of selective immunoglobulin A deficiency (SIgAD) based on immunoglobulin serum levels without any opportunistic infections, rashes, hepatosplenomegaly, autoimmunity or granulomas. The patient was found to be infected with varicella zoster; however, the clinical course was not serious. He produced antiviral antibodies. We performed lymphocyte phenotyping, quantification of T cell receptor excision circles (TRECs) and kappa deleting recombination excision circles (KRECs), an analysis of target sequences of RAG1 and 2, a whole-genome SNP array, an in vitro V(D)J recombination assay, a spectratype analysis of the CDR3 region and a flow cytometric analysis of the bone marrow. Lymphocyte phenotyping demonstrated that the ratio of CD4+ to CD8+ T cells was inverted and the majority of CD4+T cells expressed CD45RO antigens in addition to the almost complete lack of B cells. Furthermore, both TRECs and KRECs were absent. Targeted DNA sequencing a...Continue Reading

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Citations

Aug 27, 2015·Expert Review of Clinical Immunology·Reza YazdaniAsghar Aghamohammadi
Jun 3, 2015·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·P Soler-PalacínC Figueras-Nadal
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Sep 20, 2019·Expert Review of Clinical Immunology·Adeeb A BulkhiJolan E Walter
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