Acquired factor VIII deficiency associated with a novel primary immunodeficiency suggestive of autosomal recessive hyper IgE syndrome.
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.
Ozgur
Tuba Turul
TT
Division of Immunology, Hacettepe University Children's Hospital, Ankara, Turkey.
Asal
Gulten Turkkan
GT
Gurgey
Aytemiz
A
Tezcan
Ilhan
I
Ersoy
Fugen
F
Sanal
Ozden
O
D000284:Administration, Oral; D019774:Blood Coagulation Factor Inhibitors / Q000097:blood / Q000276:immunology; D002648:Child; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006467:Hemophilia A / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D006801:Humans; D007589:Job Syndrome / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D008297:Male; D011237:Predictive Value of Tests; D011239:Prednisolone / Q000008:administration & dosage; D011379:Prognosis; D016896:Treatment Outcome
D019774:Blood Coagulation Factor Inhibitors; D011239:Prednisolone