Desensitization and immune tolerance induction in children with severe factor IX deficiency; inhibitors and adverse reactions to replacement therapy: a case-report and literature review

Ital J Pediatr. 2015 Feb 19:41:12. doi: 10.1186/s13052-015-0116-8.

Abstract

Hemophilia B is a rare X-linked recessive disorder with plasma factor IX (FIX) deficiency. 1-3% of patients treated with exogenous FIX-containing products develop inhibitors (i.e. polyclonal high affinity immunoglobulins) that neutralize the procoagulant activity of a specific coagulation factor. Although the incidence of inhibitors in hemophilia B patients is low, most are "high titer" and frequently associated with the development of severe allergic or anaphylactic reactions. Immune tolerance induction as a strategy for inhibitor eradication was first described in 1984. Unfortunately, the overall reported success of immune tolerance induction in FIX deficiency with inhibitors is approximately 25-40%.We report the case of a 2-year-old boy with hemophilia B severe FIX deficiency (<1%), inhibitor antibodies to FIX development, and a history of adverse reactions to FIX infusions, who underwent a successful desensitization and immune tolerance induction with a daily FIX infusion. With this regimen the inhibitor titer decreased with effective bleeding prevention.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child, Preschool
  • Desensitization, Immunologic*
  • Factor IX / administration & dosage*
  • Factor IX / adverse effects
  • Factor IX / immunology
  • Hemophilia B / drug therapy*
  • Hemophilia B / immunology*
  • Humans
  • Immune Tolerance* / immunology
  • Immunologic Factors / administration & dosage*
  • Immunologic Factors / adverse effects
  • Immunologic Factors / immunology
  • Male
  • Recombinant Proteins / administration & dosage

Substances

  • Immunologic Factors
  • Recombinant Proteins
  • Factor IX