STWS phenotype
|
Cytokine
|
Reference
|
---|
Smooth tongue
|
LIF, CNTF
|
[7, 77]
|
Osteopenia
|
LIF, OSM, CT-1
|
[58, 68, 89, 99]
|
Cardiovascular malfunctions
|
LIF, CT-1
|
[79–81, 94, 99]
|
Paradoxical sweating
|
CLCF1/CRLF1
|
[9, 13, 106]
|
Dysphagia
|
CT-1?, OSM?, CLCF1/CRLF1?
|
[20, 70, 107, 108]
|
Respiratory distress
|
CT-1?, OSM?
|
[82]
|
Short stature
|
CNTF
|
[58, 70, 89, 100]
|
- Each of the cytokines signal through the leukemia inhibitory factor receptor (LIFR). In STWS, the LIFR gene is mutated, and due to the mutation, cytokine signaling is blocked, and the corresponding manifestations of STWS occur. Only symptoms for which the mechanism has been explored are listed. Those followed by a question mark are still under considerable speculation. LIF: leukemia inhibitory factor; CNTF: ciliary neurotrophic factor; OSM: oncostatin-M; CT-1: cardiotrophin-1; CLCF1: cardiotrophin-like cytokine factor-1; CRLF1: cytokine receptor-like factor-1.