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A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable
Hassan Abolhassani1, Ning Wang2, Asghar Aghamohammadi3
1Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.
The Journal of Allergy and Clinical Immunology
|July 6, 2014
Summary
Recombination-activating gene 1 (RAG1) deficiency can mimic common variable immunodeficiency (CVID). A homozygous RAG1 mutation was identified in a CVID-like patient, expanding the known spectrum of RAG1-related disorders.
Area of Science:
- Immunology
- Genetics
- Molecular Biology
Background:
- Recombination-activating gene 1 (RAG1) deficiency causes diverse combined immunodeficiencies.
- RAG1 mutations lead to a spectrum of T(-)B(-)NK(+) to T(+)B(+)NK(+) phenotypes.
Observation:
- A 14-year-old patient presented with clinical features resembling common variable immunodeficiency (CVID).
- The patient exhibited liver granuloma, extranodal marginal zone B-cell lymphoma, and autoimmune neutropenia.
- The patient was from a consanguineous family, suggesting autosomal recessive inheritance.
Findings:
- Genetic analysis revealed a homozygous hypomorphic RAG1 mutation (c.1073 G>A, p.C358Y).
- The identified mutation resulted in a residual protein functional capacity of 48% compared to wild-type.
- This homozygous RAG1 mutation presented a clinical picture consistent with CVID.
Implications:
- This finding expands the spectrum of clinical disorders associated with RAG1 mutations.
- The identification of RAG1 mutations in CVID-like cases has potential therapeutic implications.
- Highlights the importance of genetic analysis in diagnosing complex immunodeficiency disorders.
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