Name: APRIL deficiency | Acronym: APRILD
Alt. names: Autosomal recessive TNFSF13 loss-of-function

Gene: TNFSF13 | MOI: Autosomal recessive | Mechanism of action: Loss of Function

No. of cases in DB: 1 | First reported in: 2020

Last updated on: 2023-10-22 by Xiao P. Peng

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Description

Only 1 patient has been reported in the literature thus far - Yeh et al. (2020) identified a a nullomorphic homozygous TNFSF13 frameshift mutation in a 55-year-old Japanese man presenting with history of mild sinorespiratory infections, steroid-responsive alopecia areata and later development of small lung nodules. On labs, he had incidentally found, progressive hypogammaglobulinemia and reduced memory B cells, but normal overall T- and B-cell counts and proliferative responses (PMID: 32298700).

Management

For his humoral immunodeficiency, the above patient was started and maintained on lifetime immunoglobulin replacement, beginning with intravenous and then later switching to subcutaneous administration - this appeared to improve his infection susceptibility (PMID: 32298700). His alopecia areata was successfully treated with prednisolone for 3 months. His sinorespiratory infections were treated with antibiotics as needed. No other forms of management have been discussed in the literature.