Fig. 1: Patient details and NFKB1 variants previously reported.
From: A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency
A Pedigree of the family. The proband’s 54-year-old mother (I:2) suffered from rheumatoid arthritis. Her 57-year-old father (I:1), two brothers aged 32 (II:1) and 25 years (II:4), and a 3-year-old daughter (III:1) were healthy. B Flow cytometric analysis of B-cell subsets in the peripheral blood of the proband’s daughter. (B-a) Flow cytometric analysis of CD19+ CD20+ B cells among total lymphocytes. (B-b) Flow cytometric analysis of IgD+ CD27− naive B cells, IgD+ CD27+ IgM memory B cells, and IgD− CD27+ switched B cells within the subset of CD19+ CD20+ B cells. C Electropherogram of Sanger sequencing revealing the same variant, c.136 C > T (p.Gln46*), in NFKB1 in the proband, mother, and daughter. D Schematic representation of the protein domains and previously reported genetic variants in NFKB1. The black and white arrowheads indicate this patient and previously reported patients, respectively. RHD Rel homology domain, GRR glycine-rich region, DD death domain.
