APRIL Deficiency as a Cause of Common Variable Immunodeficiency (IMAGE)

_Tokyo Medical and Dental University

APRIL Deficiency as a Cause of Common Variable Immunodeficiency

Caption

The first APRIL deficiency was found in an adult common variable immunodeficiency patient. We performed whole exome sequencing in the patient and found the homozygous deletion mutation in TNFSF13. Based on the findings in the APRIL-deficient patient, APRIL is critical for life-long maintenance of plasmacytes to produce immunoglobulins in humans. We assumed that the functional defect in B cells due to APRIL deficiency occurs at a) plasmacyte differentiation from memory/MZ B cells, and b) life-long maintenance in the bone marrow.

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Department of Pediatrics, Perinatal and Maternal Medicine,TMDU

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