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Hereditary C2 deficiency associated with common variable immunodeficiency.

M Seligmann, J C Brouet, M Sasportes

Annals of Internal Medicine

|August 1, 1979

Summary

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Homozygous complement component 2 (C2) deficiency causes variable immunodeficiency, impacting antibody responses and T-cell function. This case highlights C2 deficiency

Area of Science:

Immunology
Genetics

Background:

Complement component 2 (C2) deficiency is a rare genetic disorder affecting the classical and lectin complement pathways.
Understanding C2 deficiency is crucial for diagnosing and managing associated immune dysfunctions.

Observation:

A 19-year-old male presented with variable immunodeficiency.
The patient exhibited marked hypoimmunoglobulinemia and impaired antibody production.
He had normal B lymphocyte counts but subnormal T-cell functions.

Findings:

The patient was diagnosed with homozygous C2 deficiency.
No antilymphocytic autoantibodies or chromosomal abnormalities were detected.
Heterozygous parents and brother showed normal serum immunoglobulin levels.
Lymphocytes were homozygous at the HLA-D locus, expressing a non-DW2 antigen.

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Implications:

Homozygous C2 deficiency can lead to significant immune deficits, including susceptibility to infections.
Genetic analysis and complement pathway assessment are vital for patients with unexplained immunodeficiency.
Further research into HLA associations with C2 deficiency may elucidate immune regulation mechanisms.