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Common variable immunodeficiency in association with Turner's syndrome.

S C Robson¹, P C Potter

¹MRC/UCT Liver Research Center, University of Cape Town, Observatory, South Africa.

Journal of Clinical & Laboratory Immunology

|July 1, 1990

Summary

Common variable immunodeficiency (CVID) can present with various symptoms and is similar to X-linked agammaglobulinemia. This report details a patient with Turner syndrome and CVID.

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Area of Science:

Immunology
Genetics
Endocrinology

Background:

Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by hypogammaglobulinemia and recurrent infections.
CVID presents heterogeneously, affecting individuals of all ages with sinopulmonary, gastrointestinal, atopic, and autoimmune manifestations.
The clinical presentation of CVID often overlaps with X-linked agammaglobulinemia, though its inheritance pattern remains largely unknown.

Observation:

This report describes a unique case of a patient diagnosed with Turner syndrome.
The patient presented with an unusual X-isoX chromosomal pattern.
The patient also exhibited clinical and laboratory features consistent with common variable immunodeficiency.

Findings:

The co-occurrence of Turner syndrome (X-isoX) and common variable immunodeficiency (CVID) is exceptionally rare.
This case highlights a potential, albeit unproven, association between specific chromosomal abnormalities and primary immunodeficiencies.
Further research is needed to explore potential genetic or developmental links.

Implications:

This case broadens the understanding of CVID's heterogeneity and potential genetic underpinnings.
It suggests that chromosomal abnormalities, such as those in Turner syndrome, may warrant consideration in the differential diagnosis of unexplained immunodeficiencies.
Investigating such rare co-occurrences can offer insights into immune system development and function.

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