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Selective T-cell deficiency in Turner's syndrome.

Mock¹, U R Markert, H Vogelsang

¹Institute for Clinical Immunology, Friedrich-Schiller University, Jena, Germany.

Journal of Investigational Allergology & Clinical Immunology

|December 7, 2000

Summary

This study reports a rare case of Turner syndrome (45,X) with a selective T-cell deficiency. Findings suggest a novel immunodeficiency linked to Turner syndrome, characterized by recurrent infections and specific immune cell abnormalities.

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Area of Science:

Immunology
Genetics
Clinical Medicine

Background:

Turner syndrome (45,X) is a chromosomal disorder typically associated with various health issues.
Selective T-cell deficiencies can lead to recurrent infections and immune dysregulation.

Observation:

A 29-year-old woman with Turner syndrome presented with recurrent sinopulmonary infections and anergy to common recall antigens.
Clinical evaluation revealed lymphocytopenia, an elevated CD45RA/CD45R0 ratio, and reduced expression of co-stimulatory molecules (CD154, CD86, CD80, CD28) on CD4+ cells.
In vitro lymphocyte transformation assays showed disturbed function.

Findings:

Markedly decreased levels of interleukin-2 receptor (IL-2R) were observed on both lymphocyte surfaces and in soluble form.
These immunological findings, in the context of Turner syndrome, suggest a potentially new form of X-linked immunodeficiency.

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Implications:

This case highlights a possible association between Turner syndrome and a specific T-cell defect, expanding the known spectrum of immunodeficiencies.
Further research is warranted to elucidate the genetic basis and precise mechanisms of this novel immunodeficiency.
Understanding this link may improve diagnostic and therapeutic strategies for patients with Turner syndrome and recurrent infections.