Abstract
References
- REFERENCES
- Macknet CA, Morkos A, Job L, et al. An infant with Netherton syndrome and persistent pulmonary hypertension requiring extracorporeal membrane oxygenation. Pediatr Dermatol. 2008; 25: 368-372.
- Boskabadi H, Maamouri G, Mafinejad S. netherton syndrome, a case report and review of literature. Iran J Pediatr. 2013; 23(5): 611-612.
- Nishio Y, Noguchi E, Shibasaki M, et al. Association between polymorphisms in the SPINK5 gene and atopic dermatitis in the Japanese. Genes Immun. 2003; 4: 515-517.
- Lin SP, Huang SY, Tu ME, et al. Netherton syndrome: mutation analysis of two Taiwanese families. Arch Dermatol Res. 2007; 299: 145-150.
- Kilic G, Guler N, Ones U, Tamay Z, Guzel P. Netherton syndrome: report of identical twins presenting with severe atopic dermatitis. Eur J Pediatr. 2006; 165: 594-597.
- Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nuc Acid Res. 1988; 16: 1215.
- Karaoglan I, Pehlivan S, Namiduru M, et al. TNF-α, TGF-β1, IL-10, IL-6 and IFN-γ gene polymorphisms as risk factors for brucellosis. New Microbiol. 2009; 32: 173-178.
- Hosomi N, Fykai K, Nakanishi T, et al. Caspase-1 activity of stratum corneum and serum interleukin-18 level are increased in patients with Netherton syndrome. British J Dermatol. 2008; 159: 744-745.
- Sun JD, Linden KG. Netherton syndrome: A case report and review of the literature. Int J Dermatol. 2006; 45: 693-697.
- Vanden Biggelear AHJ, Hua TD, Rodrigues LC, et al. Genetic variation in IL-10 is associated with atopic reactivity in Gabonese schoolchildren. J Allergy Clin Immunol. 2007; 120: 974-975.
Abstract
Netherton Syndrome (NS) is a rare autosomal recessive disorder, characterized by congenital ichthyosiform erythroderma, trichorrhexis invaginata and severe atopic diathesis. Considering that cytokines are involved in NS pathogenesis and that cytokine gene polymorphism may affect cytokine production, our purpose was to investigate the association between NS and IL-6, IL-10, IFN-γ, TGF-β1 and TNF-α polymorphisms. Cytokine genotyping and haplotyping were performed in a family with NS by PCR-SSP method. We observed GCC GCC haplotype of IL-10 gene in proband with NS and no association with all other polymorphisms. We conclude that GCC GCC haplotypes of IL-10 gene polymorphisms (-1082 A/G, -819 T/C, -592 C/A) have been associated with NS. In this study, pleiotropic effects in immunoregulation and inflammation with high expression of IL-10 gene in the nether shown for the first time in the literature.
References
- REFERENCES
- Macknet CA, Morkos A, Job L, et al. An infant with Netherton syndrome and persistent pulmonary hypertension requiring extracorporeal membrane oxygenation. Pediatr Dermatol. 2008; 25: 368-372.
- Boskabadi H, Maamouri G, Mafinejad S. netherton syndrome, a case report and review of literature. Iran J Pediatr. 2013; 23(5): 611-612.
- Nishio Y, Noguchi E, Shibasaki M, et al. Association between polymorphisms in the SPINK5 gene and atopic dermatitis in the Japanese. Genes Immun. 2003; 4: 515-517.
- Lin SP, Huang SY, Tu ME, et al. Netherton syndrome: mutation analysis of two Taiwanese families. Arch Dermatol Res. 2007; 299: 145-150.
- Kilic G, Guler N, Ones U, Tamay Z, Guzel P. Netherton syndrome: report of identical twins presenting with severe atopic dermatitis. Eur J Pediatr. 2006; 165: 594-597.
- Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nuc Acid Res. 1988; 16: 1215.
- Karaoglan I, Pehlivan S, Namiduru M, et al. TNF-α, TGF-β1, IL-10, IL-6 and IFN-γ gene polymorphisms as risk factors for brucellosis. New Microbiol. 2009; 32: 173-178.
- Hosomi N, Fykai K, Nakanishi T, et al. Caspase-1 activity of stratum corneum and serum interleukin-18 level are increased in patients with Netherton syndrome. British J Dermatol. 2008; 159: 744-745.
- Sun JD, Linden KG. Netherton syndrome: A case report and review of the literature. Int J Dermatol. 2006; 45: 693-697.
- Vanden Biggelear AHJ, Hua TD, Rodrigues LC, et al. Genetic variation in IL-10 is associated with atopic reactivity in Gabonese schoolchildren. J Allergy Clin Immunol. 2007; 120: 974-975.
Details
| Journal Section | Makaleler |
|---|---|
| Authors | |
| Publication Date | December 8, 2016 |
| Submission Date | April 2, 2015 |
| Published in Issue | Year 2016 Volume: 11 Issue: 2 |
