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Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
Published on: November 26, 2018
An interleukin-2 receptor gamma chain mutation with normal thymus morphology
N Sharfe1, M Shahar, C M Roifman
1Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and the University of Toronto, Toronto, Canada M5G 1X8.
The Journal of Clinical Investigation
|January 31, 1998
Summary
A novel mutation in the interleukin-2 receptor gamma (IL-2Rgamma) chain causes X-linked immunodeficiency with a unique presentation. This finding highlights the diverse clinical spectrum of IL-2Rgamma defects.
Area of Science:
- Immunology
- Genetics
- Molecular Biology
Background:
- Interleukin-2 receptor gamma (IL-2Rgamma) mutations cause X-linked severe combined immunodeficiency (X-SCID).
- IL-2Rgamma is a critical component of multiple cytokine receptor complexes, including IL-2, IL-4, IL-7, IL-9, and IL-15.
- Typical X-SCID presents with absent T and B lymphocytes (T-B+), but milder phenotypes exist.
Observation:
- A novel R222C mutation in the human IL-2Rgamma chain was identified.
- The patient exhibited clinical immunodeficiency despite normal peripheral T and B cell numbers, normal mitogenic responses, and a normal thymus.
- The mutated IL-2Rgamma protein was expressed on the cell surface, indicating relative stability.
Findings:
- Patient T cells showed a reduced ability to bind IL-2.
- Despite a seemingly complete T cell receptor repertoire, antigen-specific responses were impaired.
- This suggests that impaired IL-2 binding, not necessarily absent T cells, can cause immunodeficiency.
Implications:
- This case expands the known clinical and immunological spectrum of IL-2Rgamma deficiency.
- Early recognition of this unusual phenotype is crucial for timely diagnosis and management.
- Understanding these diverse presentations aids in diagnosing and treating primary immunodeficiencies.
