Common variable immune deficiency with mutated TNFSRF13B gene presenting with autoimmune hematologic manifestations

Abstract

Patients with common variable immunodeficiency (CVID) develop autoimmune hematologic manifestations. We report a 14-year-old boy with Evans syndrome, who presented at the age of 11.5 years with autoimmune hemolysis and was successfully managed with corticosteroids. Initially, the serum immunoglobulins were within the low-normal range for age, but two years after presentation he definitely fulfilled the diagnostic criteria for CVID, despite a negative history for serious infections. DNA sequencing by PCR of the TNFSRF13B gene that encodes the TACI receptor disclosed the heterozygous mutation C104R that is found in approximately 10–15% of patients with CVID. Common variable immunodeficiency should be considered in the differential diagnosis of autoimmune hematologic manifestations, since its timely diagnosis may considerably affect clinical management and patient outcome.

Keywords

• Common variable immune deficiency
• Autoimmune hemolytic anemia
• Immune thrombocytopenia
• Transmembrane activator and CAML interactor