Successful treatment of refractory mevalonate kinase deficiency with combination therapy targeting TNFα and IL1β.

The article discusses the case of a pediatric patient with mevalonate kinase deficiency (MKD) caused by homozygous mutation in the MVK gene. Topics discussed include the patient's development of very early-onset, recurrent episodes and life-threatening colitis, the results of genetic testing and colonoscopic biopsy, and the management of the patient through combination therapy targeting interleukin-1 beta and tumor necrosis factor alpha.