Acquired factor VIII deficiency associated with a novel primary immunodeficiency suggestive of autosomal recessive hyper IgE syndrome

J Pediatr Hematol Oncol. 2007 May;29(5):327-9. doi: 10.1097/MPH.0b013e318059c236.


Primary immunodeficiency diseases (PID) are associated with various autoimmune complications and several manifestations of autoimmunity can be seen in the disorders of T cells, B cells, phagocytes, and complement components. Acquired hemophilia is a rare entity in childhood. Although autoantibodies may develop in various forms of PID, Factor VIII (FVIII) inhibitors have not been described before. Herein, we present a case of acquired hemophilia resulting from FVIII inhibitors who had underlying undefined PID features suggestive of autosomal recessive hyper IgE syndrome. Our patient responded to corticosteroid treatment rather well and quickly, with an increased FVIII level and decreased FVIII inhibitors. However, FVIII inhibitor reappeared 7 months later, and disappeared spontaneously 4 months ago. Long-term and close follow-up is needed to observe the long-term prognosis in this child.

Publication types

  • Case Reports

MeSH terms

  • Administration, Oral
  • Blood Coagulation Factor Inhibitors / blood
  • Blood Coagulation Factor Inhibitors / immunology
  • Child
  • Follow-Up Studies
  • Genes, Recessive
  • Hemophilia A / complications*
  • Hemophilia A / diagnosis
  • Hemophilia A / drug therapy
  • Humans
  • Job Syndrome / complications*
  • Job Syndrome / diagnosis
  • Job Syndrome / drug therapy
  • Male
  • Predictive Value of Tests
  • Prednisolone / administration & dosage
  • Prognosis
  • Treatment Outcome


  • Blood Coagulation Factor Inhibitors
  • Prednisolone