الفهرس 
JANUS KINASE IN HEALTH AND DISEASEOnly 14 pages are availabe for public view
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Abstract
J
anus kinases (JAKs) family include JAK 1, 2, 3 and tyrosine kinase 2 play central role in cytokine and growth factor signalling and few preliminary studies suggest their possible contribution in the pathogenesis of scleroderma.
This was a pilot study that included sixteen pediatric patients with JSD; they were 11 patients with JSSc and 5 patients with JLS. The patients were compared to 17 healthy controls. Patients were recruited from different hospitals: 9 patients were recruited during their follow up visits at the Pediatric Allergy, Immunology and Rheumatology Unit, Children’s Hospital, Ain Shams, 2 patients from Asyut University hospital, 2 patients from Sohag University hospital and 3 patients from Alhawd Almarsud hospital. Serum and cutaneous expression of JAK3 were measured in patients with JSSc and JLS in comparison to healthy first-degree relatives and unrelated controls by enzyme linked immunosorbent assay (ELISA). Disease severity was assessed using mRSS and J4S for JSSc patients, and using LoSDI domain of LoSCAT for JLS patients.
Patients with JSSc were 8 females (72.7%) and 3 males (27.3%) whose ages ranged between 6 and 16 years with mean (SD) of 11.2 (3.3) years, while JLS patients were all females and their ages ranged between 7-14 years with a mean (SD) of 10 (2.7) years. The median (IQR) of serum JAK3 was significantly higher among JSSc patients as compared to that of controls {430 (320-520) versus 270 (180-385), p = 0.005}, while comparable values were found among JLS and controls as well as JLS and JSSc patients (p>0.05). Cutaneous expression of JAK3 was comparable between all patients and controls (p>0.05). Serum and cutaneous expression of JAK 3 did not correlate significantly with mRSSc (r=-0.48, p> 0.05; r=-0.37, p>0.05 respectively) and J4S (r=-0.28, p>0.05; r=-0.43, p>0.05 respectively) in JSSc patients and LoSCAT/LoSDI (r=0.3, p>0.05; r=-0.1, p >0.05) in JLS patients, and neither differ significantly between different grades of skin fibrosis in JSSc patients.
In conclusion, JAK 3 seems to contribute in the pathogenesis of JSSc and a serum level of > 400 pg/dl might serve as a biomarker of JSSc to allow early diagnosis in patients with mild skin changes or isolated RP. Patients with early JSSc may have higher JAK3 expression both in serum and skin. JAK 3 expression was non-significant in JLS patients with advanced skin disease. Further wider scale studies are needed to evaluate JAK3 expression in different stages of JSSc and JLS. Also, prospective studies are needed to demonstrate the possible changes in JAK 3 expression during the course of the disease and its relation to the activity scores and treatment given.