Screening for B cell, T cell and natural killer cell defects among children with methylmalonic and propionic acidemias

Background Patients with methylmalonic acidemias (MMAs) and propionic acidemias (PAs) were noticed to suffer recurrent infections with high morbidity and mortality during infections. Neutropenia, impaired phagocytic chemotaxis, low levels of IgG, and depletion of B and T cells in patients with PA and MMA have been previously reported, but relevant studies were limited and based on case reports or small cohorts, with contradictory results. We sought to evaluate B cells, T cells, and natural killer (NK) cells in children with MMA and PA and investigate the impact of metabolic disease control on the studied immunological parameters. Thirty patients (23 MMAs and 7 PAs) were enrolled in a cross-sectional study. Patients were subjected to clinical evaluation, complete blood count, blood gases, serum immunoglobulin levels, candida intradermal testing, and lymphocyte subset flow cytometric enumeration.