Rowell syndrome complicated with macrophage activation syndrome in a child.

Rowell syndrome (RS) is a rare disease characterized by the association of systemic lupus erythematosus (SLE) or cutaneous lupus with lesions similar to erythema multiforme and the presence of autoantibodies including ANA, SSA, SSB, or rheumatoid factor. Due to the low incidence of this disease, the epidemiology of RS is not clear. So far there are 95 cases reported in the literature; of these, only seven cases are pediatric patients. Macrophage activation syndrome (MAS) is an increasingly recognized complication of SLE, although its true prevalence in childhood is still unknown. We describe a unique pediatric patient with RS who developed MAS.

Molecular analysis for patients with IL-12 receptor ß1 deficiency.

Autosomal recessive interleukin-12 receptor ß1 (IL-12Rß1) 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-12Rß1 expression on the cell surface was negligible or absent. Genetic analysis showed five novel mutations.