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Case Report: C3 deficiency in two siblings.

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Summary

Total C3 deficiency in siblings caused by novel mutations led to recurrent infections and hemolytic uremic syndrome. Intravenous immunoglobulin therapy improved clinical outcomes, highlighting the importance of genetic and immune evaluations.

Keywords:
B-lymphocyte subsetsC3 deficiencycomplement systemintravenous immunoglobulinrecurrent infections

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Area of Science:

  • Immunology
  • Genetics

Background:

  • The complement system is crucial for innate immunity, pathogen clearance, and adaptive immune responses.
  • Complement protein deficiencies, especially C3, increase susceptibility to infections and immune complex disorders.

Observation:

  • A case report details two siblings with total C3 deficiency due to compound heterozygous mutations in the C3 gene.
  • The siblings experienced recurrent childhood infections, and one developed hemolytic uremic syndrome (HUS).

Findings:

  • Immunological assessments revealed undetectable plasma C3, reduced memory B cells, hypogammaglobulinemia, and poor responses to polysaccharide antigens.
  • Genetic analysis identified novel C3 mutations and risk polymorphisms for atypical HUS.
  • Intravenous immunoglobulin replacement therapy led to clinical improvement.

Implications:

  • This case underscores the necessity of thorough genetic and immunological workups for complement deficiencies.
  • Intravenous immunoglobulin therapy may be beneficial for managing antibody defects associated with C3 deficiency.