3) When Regulation Goes Wrong (JAK/STAT) Flashcards
What can a JAK/STAT mutation cause?
immunodeficiency or cancer
What cells can be mutated?
Germ & somatic
What do mutated Germ cells cause?
Primary immunodeficiency (PID)
What is an example of PID?
UV radiation
What do mutated somatic cells cause?
Cancer
What is a disease of PID?
X-linked SCID
What parent can pass on this SCID?
mum or dad
What are the effects of this SCID?
non-functional T-cells & defective antibody production
Are there increased infections with SCID?
YES.
On what chain of the receptor would cytokine IL-2 bind?
Beta chain
What happens if beta chain is not functional in receptor?
T and cytokines cannot bind, impact development of T&B cells
What do gamma-c receptors bind to?
JAK3 but if mutated then can’t bind to gamma chain
What is a disease of mutated somatic cells?
Job’s Syndrome (cancer)
What is the major cause of Job’s Syndrome?
Mutations in STAT3 gene
What is JAK3 important in?
development of skeletal system and immune ststem
