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Related Experiment Videos

Inherited disorders of complement.

L C Guenther

    Journal of the American Academy of Dermatology
    |December 1, 1983
    PubMed
    Summary
    This summary is machine-generated.

    Inherited complement deficiencies, though rare, link to various diseases. Understanding these complement system defects is key to diagnosing and managing associated conditions, from infections to autoimmune disorders.

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    Area of Science:

    • Immunology
    • Genetics

    Background:

    • Isolated complement component deficiencies are rare genetic conditions affecting the immune system.
    • While deficiencies in the classical complement pathway are documented, complete absence of alternative pathway components remains undescribed.

    Purpose of the Study:

    • To review the complement system and its biologic activities.
    • To summarize current knowledge on inherited complement deficiencies, associated diseases, dermatologic manifestations, genetics, and diagnosis.

    Main Methods:

    • Literature review of complement system function and inherited deficiencies.
    • Synthesis of data on clinical manifestations, genetic basis, and diagnostic approaches.

    Main Results:

    • Specific complement component deficiencies correlate with predictable clinical outcomes (e.g., C3 deficiency with infections, C9 deficiency with normal health).

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  • Deficiencies in early classical pathway components are linked to lupus erythematosus.
  • Deficiency of C1 esterase inhibitor causes hereditary angioedema.

    • Conclusions:

    • The complement system's role in immunity is critical, and its deficiencies have significant health implications.
    • Understanding complement genetics and manifestations aids in diagnosis and management of associated diseases.