Common variable immune deficiency with mutated TNFSRF13B gene presenting with autoimmune hematologic manifestations
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 immunoglobuli...
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| Main Authors: | , , , , |
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| Format: | Book |
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Elsevier,
2016-10-01T00:00:00Z.
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| Summary: | 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. |
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| Item Description: | 2468-1245 10.1016/j.phoj.2017.01.002 |