How is STAT1 gain of function mutation treated?

Patients carrying STAT1 gain-of-function (GOF) mutations frequently display autoimmune characteristics. These mutations lead to an abnormal activation of the immune system, causing the body to attack its own tissues.

To address the autoimmune symptoms associated with STAT1 GOF mutations, the JAK1/2 inhibitor ruxolitinib can be prescribed. This medication works by inhibiting the activity of JAK1 and JAK2 kinases, which are crucial for the signaling pathways that drive immune cell activation.

Administration of ruxolitinib has shown promise in alleviating autoimmune symptoms in patients with STAT1 GOF mutations. However, the underlying mechanisms through which ruxolitinib exerts its therapeutic effects on immune cells remain largely unknown.

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