Janus Kinase Inhibition in Down Syndrome: Two Cases of Therapeutic Benefit for Alopecia Areata
April 2019
in “
JAAD case reports
”
TLDR JAK inhibitors helped treat hair loss in two people with Down syndrome.
The document discussed two cases where Janus kinase (JAK) inhibition showed therapeutic benefits for individuals with Down syndrome (DS) suffering from alopecia areata (AA). DS is associated with immune dysregulation and a higher risk of autoimmune conditions, partly due to the genetic cause, trisomy 21 (T21), which activates the interferon (IFN) response and hyperactivates JAK/STAT signaling. This leads to chronic autoinflammation and overexpression of IFN-stimulated genes. The study highlighted the potential of JAK inhibitors in managing AA in DS patients by targeting the underlying molecular mechanisms.
