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Hereditary C2 deficiency associated with immune complex disease
The Australian Journal of Experimental Biology and Medical Science
|February 1, 1978
Summary
Inherited C2 complement deficiency, an autosomal recessive trait, is linked to HLA genes. This unique case helps map complement component 2 (C2) gene location on chromosome 6.
Area of Science:
- Immunogenetics
- Complement system biology
Background:
- Immune complex deposition syndromes can be linked to complement deficiencies.
- The complement system plays a crucial role in immune regulation and pathogen clearance.
Observation:
- A patient with an immune complex syndrome was identified with a hereditary deficiency of the C2 complement component.
- Family studies confirmed an autosomal recessive inheritance pattern for the C2 deficiency.
Findings:
- Human Leukocyte Antigen (HLA) typing revealed a close linkage between HLA and C2 genes.
- The patient's chromosomes carried specific HLA-A and HLA-B alleles, with variations at the HLA-D locus, providing a unique haplotype.
- Complement assays showed activation primarily through the alternate pathway.
Implications:
- This unique haplotype is valuable for mapping the C2 gene locus, suggesting a gene order of HLA-D, C2, HLA-B, HLA-A on chromosome 6.
- C2 deficiency may impair the clearance of immune complexes, potentially leading to disease after viral or other infections.