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RAG1 deficiency may present clinically as selective IgA deficiency.

Tamaki Kato1, Elena Crestani, Chikako Kamae

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|March 6, 2015
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Recombination-activating gene (RAG) deficiency can present mildly, challenging diagnosis. This case highlights novel RAG1 mutations and suggests TRECs and KRECs are key markers for identifying RAG deficiency, even in mild forms.

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Area of Science:

  • Immunology
  • Genetics

Background:

  • Recombination-activating gene (RAG) 1 and 2 deficiency typically causes severe combined immunodeficiency (SCID) or Omenn syndrome.
  • Recent findings suggest a broader spectrum of RAG deficiency, including milder phenotypes.

Observation:

  • A 4-year-old boy initially diagnosed with selective immunoglobulin A deficiency (SIgAD) showed no severe symptoms despite varicella zoster infection.
  • He produced antiviral antibodies and lacked opportunistic infections, rashes, hepatosplenomegaly, autoimmunity, or granulomas.

Findings:

  • Lymphocyte phenotyping revealed an inverted CD4+/CD8+ T cell ratio, CD45RO+ CD4+ T cells, and a near absence of B cells.
  • Absence of T cell receptor excision circles (TRECs) and kappa deleting recombination excision circles (KRECs) was noted.
  • Genetic analysis identified a RAG1/RAG2 gene deletion and two novel RAG1 missense mutations (E455K, R764H), with residual in vitro recombination activity.

Implications:

  • This case expands the known phenotypic spectrum of RAG deficiency to include milder presentations.
  • TRECs and KRECs serve as valuable biomarkers for detecting both severe and mild RAG deficiency cases.