The exaggerated inflammatory response characteristic of CGD patients could play a role in the development of this complication. IVIG appears to be a safe and effective first line treatment in these patients.

Background Kawasaki disease (KD) is an acute systemic vasculitis that predominantly affects patients younger than 5 years. In the absence of an available, affordable diagnostic test, detailed clinical history and physical examination are still fundamental to make a diagnosis. Methods We present five representative cases with KD‐like presentations: systemic onset juvenile idiopathic arthritis, mycoplasma‐induced rash and mucositis, staphylococcal scalded skin syndrome, BCGosis, and the recently described multisystemic inflammatory syndrome in children (MIS‐C) associated with the severe acute respiratory syndrome coronavirus 2 (SARS‐CoV2) virus. Results Rash, fever, and laboratory markers of inflammation can be present in several childhood diseases that may mimic KD. Conclusion The term ‘Kawasaki syndrome’ instead of ‘Kawasaki disease’ may be more appropriate. Physicians should consider an alternative diagnosis that may mimic KD, particularly considering MIS‐C during the present pandemic, as an aggressive diagnostic and therapeutic approach is needed.

Autosomal recessive interleukin-12 receptor β1 (IL-12Rβ1) deficiency has been described as the most common cause of Mendelian susceptibility to mycobacterial disease (MSMD), characterized by clinical disease due to weakly virulent mycobacteria such as Bacille Calmette-Guérin (BCG) vaccines and environmental mycobacteria (EM) in children who are normally resistant to most infectious agents. Here, we report the cases of five patients with mycobacterial infection, including one with systemic lupus erythematosus (SLE). Blood samples from patients and healthy controls were activated in vitro with BCG, BCG+IL-12, and BCG+IFN-γ. The results showed reduced or no production of IFN-γ after IL-12 stimulation in all samples. IL-12Rβ1 expression on the cell surface was negligible or absent. Genetic analysis showed five novel mutations.

No abstract

No abstract