B cell expansion with NF-κB and T cell anergy (BENTA) is a rare primary immunodeficiency disorder caused by mutations in the gene and results in constitutive NF-κB activation in B and T cells. Affected patients present with polyclonal expansion of B cells at an early age with splenomegaly, lymphadenopathy, and mild autoimmunity. Here, we discuss four BENTA cases with unusual clinical manifestations not previously reported. All patients showed previously reported gain-of-function mutations (G123S, G123D, and C49Y) in the gene. Severe autoimmune manifestations were noted for the first time in all our patients.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010569PMC
http://dx.doi.org/10.3389/fimmu.2018.01049DOI Listing

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