| A rare autoinflammatory syndrome with immune deficiency characterized by recurrent infections (bacterial and viral) due to NCKAP1L mutations. Patients present with recurrent respiratory tract infections and recurrent pneumonia mostly causing bronchiectasis, bacteremia, and meningitis. Patients also have systemic hyperinflammation which mostly presents with an atopic disease, hepatosplenomegaly, and lymphoproliferation. Cytokine overproduction, antibody abnormalities, elevated IgE levels and increased B cells are observed. |
