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Hereditary C1q deficiency: a new family with C1qA deficiency

Cağman Sun-Tan1, Tuba Turul Ozgür, Gamze Kilinç

  • 1Division of Immunology, Department of Pediatrics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.

The Turkish Journal of Pediatrics
|June 22, 2010
PubMed

Insights

Hereditary C1q deficiency causes severe infections and autoimmune diseases like lupus. A boy with a C1q deficiency mutation presented with a facial rash, highlighting this rare genetic disorder.

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Hereditary deficiency of complement component C1q (C1q deficiency) is a rare genetic disorder.
  • Patients experience recurrent infections from encapsulated bacteria and a high prevalence of autoimmune diseases, particularly systemic lupus erythematosus (SLE).

Observation:

  • A 29-month-old boy presented with a facial rash, characterized by erythematous plaques and hypopigmented macules with desquamation.
  • The patient had a family history of early-onset severe bacterial infections, including two deceased siblings and an uncle who died of meningitis.

Findings:

  • The boy was diagnosed with selective C1q deficiency.
  • Molecular analysis revealed a homozygous point mutation in the C1qA chain gene.
  • Five family members, including parents and three siblings, were identified as heterozygous carriers of the mutation.

Implications:

  • This case underscores the critical role of C1q in immune function and host defense.
  • Early diagnosis and genetic counseling are crucial for families with C1q deficiency.
  • Understanding the genetic basis of C1q deficiency can inform potential therapeutic strategies for related autoimmune and infectious conditions.

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