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Familial OKT4 epitope deficiency: studies on antigen density and lymphocyte function
Clinical Immunology and Immunopathology
|October 1, 1985
Summary
Hereditary deficiency of the OKT4 epitope on helper T cells was identified in a family, with affected members showing normal T-cell functions. This OKT4 epitope abnormality appears to be an autosomal codominant trait.
Area of Science:
- Immunology
- Genetics
Background:
- Helper T cells play a crucial role in immune responses.
- The OKT4 epitope is a marker on helper T cells.
Purpose of the Study:
- To investigate a case of hereditary deficiency of the OKT4 epitope on helper T cells.
- To determine the inheritance pattern and prevalence of this deficiency.
Main Methods:
- Flow cytometry was used to analyze lymphocyte subsets.
- Monoclonal antibodies (OKT4, OKT3, OKT8, etc.) were employed for cell surface marker identification.
- Lymphocyte proliferation assays assessed T-cell function.
Main Results:
- A woman presented with a severe deficiency of OKT4+ T cells (0.7%) but normal T-cell functions and other lymphocyte subsets.
- One sister shared the OKT4 epitope deficiency, while other family members had normal subsets.
- Five family members showed reduced OKT4+ cell fluorescence intensity, suggesting carrier status.
- The defect was inherited as an autosomal codominant trait.
- A similar OKT4 epitope deficiency was found in 0.43% of subjects in Japan.
Conclusions:
- Hereditary OKT4 epitope deficiency can occur with normal helper T-cell function.
- The trait is inherited in an autosomal codominant manner.
- This condition is present in a small percentage of the general population.