Majeed Syndrome: Five Cases With Novel Mutations From Unrelated Families in India With a Review of Literature.
Pallavi Pimpale ChavanIvona AksentijevichAditya DaftaryHiren PanwalaChetna KhemaniArchana KhanRaju KhubchandaniPublished in: The Journal of rheumatology (2021)
Patients with MJS may present initially to different specialists, and thus it is important to create awareness in the medical community. In India, consanguinity is a common sociocultural factor in many ethnic communities and an abbreviated NGS gene panel for autoinflammatory diseases should include MJS. The unavailability of interleukin 1 inhibitors in some countries poses a treatment challenge.