Panel A shows a pedigree identifying individuals with wild-type/mutant and mutant/mutant genotypes, with M defined as c.6544C less than T, p.Gln2128Ter. Panel B shows CTLA-4 expression in regulatory T cells under basal and phorbol 12-myristate 13-acetate/ionomycin conditions, with median fluorescence intensity and fold change measurements. Panel C shows a magnetic resonance imaging scan with arrows indicating regions of interest near the hip joints. Panel D shows positron emission tomography/computed tomography images at T0 and T3m, with arrows indicating regions of interest near the hip joints.
Ureaplasma parvum septic arthritis in a patient with LRBA deficiency. (A) Family pedigree with affected individuals indicated in red. (B) Flow cytometric analysis of intracellular CTLA-4 expression in Tregs from affected family members (II:4, II:5) and HCs, under unstimulated conditions and following 2-h stimulation with PMA/ionomycin, according to an optimized in-house protocol. (C) MRI demonstrating joint effusion of the femoroacetabular joint (upper arrow) with associated edema of the left adductor muscles (lower arrow). (D) Serial 18F-FDG PET-CT imaging at diagnosis and after 3 months of treatment, demonstrating metabolic resolution of septic arthritis of the left hip (arrows). Physiological ovarian hypermetabolism is visible on the initial PET-CT. **P < 0.01 and ***P < 0.001 (two-tailed, unpaired Student’s t test). ns, statistically not significant. PMA, phorbol myristate acetate; HC, healthy control.