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[H Factor Deficiency: A Case with an Atypical Presentation]

Ana Paula Rocha1, Madalena Borges1, Conceição Neves1

  • 1Unidade de Imunodeficiências Primárias. Serviço de Pediatria. Hospital Dona Estefânia. Centro Hospitalar Lisboa Central. Lisboa. Portugal.

Acta Medica Portuguesa
|March 22, 2019
PubMed

Insights

H factor deficiency, typically causing infections and kidney issues, presented atypically in a child with ear infections. Family history of autoimmune disorders aided diagnosis, highlighting unusual presentations of this complement system disorder.

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • H factor deficiency is a rare disorder affecting the complement system, typically presenting with Neisseria meningitidis infections and renal disease.
  • Atypical presentations can occur, making diagnosis challenging.

Keywords:
ChildComplement Factor HImmunologic Deficiency SyndromesOtitis Media

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