Objective To investigate the genetic etiology of a BENTA(B-cell expansion with NF-κB and T cell an-ergy)family line and to summarize its clinical characteristics and gene variants.Methods A BENTA family line attending Ningbo Women and Children's Hospital on 3 March 2022 was chosen as the research subject,and the clinical data of the pa-tients in this family line were collected.Furthermore,whole exome sequencing(WES)and Sanger sequencing were performed to validate the candidate gene variants for completion of a systematic literature review.Results The child exhibited large lymph nodes,splenomegaly,recurrent respiratory infections,arthralgia,and cutaneous purpura.His father suffered from splenomegaly,numerous lymph nodes,and respiratory infections.WES revealed c.368G＞A(p.Gly123Asp),which is a het-erozygous variant of the CARD11 gene,and Sanger sequencing confirmed that the variant was inherited from his father.The pathogenic mutation was isolated in the family.According to the American College of Medical Genetics and Genomics guide-lines,c.368G＞A was rated as a suspected pathogenic variant(PS2+PM2_Supporting+PM5).Conclusion The c.368G＞A(p.Gly123Asp)variant of the CARD11 gene may be the genetic cause of the disease occurring to the children and their fathers.The above findings enrich the phenotypic spectrum of the CARD11 gene.The patients exhibiting clinical B-lymphocytosis,splenomegaly,and recurrent respiratory infections should be aware of BENTA disease and undergo genetic test to confirm the diagnosis.
CARD11 geneB-cell expansion with NF-κB and T cell anergywhole exome sequencingB-lympho-cytosis
NETL
NSTL
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