Cytokine Profiling in a Familial Case of Autoimmune Lymphoproliferative Syndrome with Co-mutations of FAS and MEFV

Abstract

We performed cytokine profiling in a familial case with co-mutations of FAS and MEFV. The child was referred to our hospital because of splenomegaly. Her mother was hospitalized at a young age because of frequent fever and lymphadenopathy. However, despite several examinations, including bone marrow evaluation, her mother's condition was undiagnosed. Her frequency of fever decreased with age. The number of double-negative T cells increased in both mother and child cases. Their number of apoptotic cells cultured under phytohemagglutinin and interleukin (IL)-2 did not change with the anti-Fas antibody concentration. The genomic study of the proband and mother revealed co-mutations of FAS as p.Leu229fs on exon 9, which is located in the death domain in the intracellular signal pathway, and compound heteromutations as p.L110P and p.E148Q on exon 2 of MEFV. Soluble IL-2R was constantly high in both mother and child cases. Serum IL-10, MCP-1, and MIP-1β levels were high only in the child with recurrent fever. T...