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Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.
Melo C, Gama-de-Sousa S, Almeida F, Rendeiro P, Tavares P, Cardoso H, Carvalho S. Melo C, et al. Gene. 2013 Oct 15;529(1):186-9. doi: 10.1016/j.gene.2013.07.031. Epub 2013 Aug 6. Gene. 2013. PMID: 23928108 Review.
Cat eye syndrome is a rare congenital disease characterized by the existence of a supernumerary chromosome derived from chromosome 22, with a variable phenotype comprising anal atresia, coloboma of the iris and preauricular tags or pits. We report a girl with …
Cat eye syndrome is a rare congenital disease characterized by the existence of a supernumerary chromosome derived from …
The same mutation in a family with adenosine deaminase 2 deficiency.
Sozeri B, Ercan G, Dogan OA, Yıldız J, Demir F, Doğanay L. Sozeri B, et al. Rheumatol Int. 2021 Jan;41(1):227-233. doi: 10.1007/s00296-019-04444-z. Epub 2019 Sep 20. Rheumatol Int. 2021. PMID: 31541281 Review.
DADA2 is mainly characterized by high fever, livedo racemose, early-onset stroke, mild immunodeficiency and clinically polyarteritis nodosa (PAN)-like symptoms. Mutations in CECR1 (cat eye syndrome chromosome region, candidate 1) are responsible for DADA2. .. …
DADA2 is mainly characterized by high fever, livedo racemose, early-onset stroke, mild immunodeficiency and clinically polyarteritis nodosa …
Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.
Jedraszak G, Braun K, Receveur A, Decamp M, Andrieux J, Rabbind Singh A, Copin H, Bremond-Gignac D, Mathieu M, Rochette J, Morin G. Jedraszak G, et al. Ann Endocrinol (Paris). 2015 Oct;76(5):629-34. doi: 10.1016/j.ando.2015.02.002. Epub 2015 Oct 27. Ann Endocrinol (Paris). 2015. PMID: 26518262
Association of growth hormone deficiency together with hypothalamic-pituitary axis malformation and Cat-Eye syndrome is a very rare condition. We report a family with two brothers presenting with growth delay due to a growth hormone deficiency associated with …
Association of growth hormone deficiency together with hypothalamic-pituitary axis malformation and Cat-Eye syndrome is …
Cytotoxic activity of bromodomain inhibitor NVS-CECR2-1 on human cancer cells.
Park SG, Lee D, Seo HR, Lee SA, Kwon J. Park SG, et al. Sci Rep. 2020 Oct 1;10(1):16330. doi: 10.1038/s41598-020-73500-7. Sci Rep. 2020. PMID: 33004947 Free PMC article.
Here, we investigated a potential anticancer activity of the recently developed non-BET family BRD inhibitor NVS-CECR2-1 that targets the cat eye syndrome chromosome region, candidate 2 (CECR2). We show that NVS-CECR2-1 inhibits chromatin binding of CECR2 BRD …
Here, we investigated a potential anticancer activity of the recently developed non-BET family BRD inhibitor NVS-CECR2-1 that targets the …
Cat eye syndrome with hypogonadotropic hypogonadism.
Masukawa H, Ozaki T, Nogimori T. Masukawa H, et al. Intern Med. 1998 Oct;37(10):853-6. doi: 10.2169/internalmedicine.37.853. Intern Med. 1998. PMID: 9840707 Free article.
A 17-year-old male diagnosed as having Cat Eye Syndrome (CES) with hypogonadotropic hypogonadism showed short stature and no development of secondary sex characteristics. ...
A 17-year-old male diagnosed as having Cat Eye Syndrome (CES) with hypogonadotropic hypogonadism showed short stature a …
Impact of uremic environment on peritoneum: a proteomic view.
Wang HY, Lin CY, Chien CC, Kan WC, Tian YF, Liao PC, Wu HY, Su SB. Wang HY, et al. J Proteomics. 2012 Apr 3;75(7):2053-63. doi: 10.1016/j.jprot.2012.01.011. Epub 2012 Jan 16. J Proteomics. 2012. PMID: 22266485 Clinical Trial.
Western blots confirmed that kininogen-1, apoptosis inhibitor 2, cat eye syndrome critical region protein 1, and apolipoprotein A-I had higher expression levels in the uremia samples. ...
Western blots confirmed that kininogen-1, apoptosis inhibitor 2, cat eye syndrome critical region protein 1, and apolip …
Detailed analysis of Japanese patients with adenosine deaminase 2 deficiency reveals characteristic elevation of type II interferon signature and STAT1 hyperactivation.
Nihira H, Izawa K, Ito M, Umebayashi H, Okano T, Kajikawa S, Nanishi E, Keino D, Murakami K, Isa-Nishitani M, Shiba T, Honda Y, Hijikata A, Yasu T, Kubota T, Hasegawa Y, Kawashima Y, Nakano N, Takada H, Ohga S, Heike T, Takita J, Ohara O, Takei S, Takahashi M, Kanegane H, Morio T, Iwaki-Egawa S, Sasahara Y, Nishikomori R, Yasumi T. Nihira H, et al. J Allergy Clin Immunol. 2021 Aug;148(2):550-562. doi: 10.1016/j.jaci.2021.01.018. Epub 2021 Jan 30. J Allergy Clin Immunol. 2021. PMID: 33529688 Clinical Trial.
Most patients with DADA2 exhibit systemic vasculopathy consistent with polyarteritis nodosa, but large phenotypic variability has been reported, and the pathogenesis of DADA2 remains unclear. OBJECTIVES: This study sought to assess the clinical and genetic characteristics …
Most patients with DADA2 exhibit systemic vasculopathy consistent with polyarteritis nodosa, but large phenotypic variability has been repor …
ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation.
Barzaghi F, Minniti F, Mauro M, Bortoli M, Balter R, Bonetti E, Zaccaron A, Vitale V, Omrani M, Zoccolillo M, Brigida I, Cicalese MP, Degano M, Hershfield MS, Aiuti A, Bondarenko AV, Chinello M, Cesaro S. Barzaghi F, et al. Front Immunol. 2019 Jan 14;9:2767. doi: 10.3389/fimmu.2018.02767. eCollection 2018. Front Immunol. 2019. PMID: 30692987 Free PMC article.
Adenosine deaminase 2 (ADA2) deficiency is an auto-inflammatory disease due to mutations in cat eye syndrome chromosome region candidate 1 (CECR1) gene, currently named ADA2. The disease has a wide clinical spectrum encompassing early-onset vasculopath …
Adenosine deaminase 2 (ADA2) deficiency is an auto-inflammatory disease due to mutations in cat eye syndrome chromosome …
A 9.5-year-old boy with recurrent neurological manifestations and severe hypertension, treated initially for polyarteritis nodosa, was subsequently diagnosed with adenosine deaminase type 2 deficiency (DADA2) which responded to anti-TNF-α.
Sahin S, Adrovic A, Barut K, Baran S, Tahir Turanli E, Canpolat N, Kizilkilic O, Ozkaya O, Kasapcopur O. Sahin S, et al. Paediatr Int Child Health. 2020 Feb;40(1):65-68. doi: 10.1080/20469047.2018.1559495. Epub 2019 Jan 15. Paediatr Int Child Health. 2020. PMID: 30642227
Although these manifestations were consistent with polyarteritis nodosa (PAN), the consanguinity of his parents, a cousin with similar clinical features and early disease onset led to suspicion of deficiency of adenosine deaminase type 2 (DADA2) diseases. ...Raised IgG lev …
Although these manifestations were consistent with polyarteritis nodosa (PAN), the consanguinity of his parents, a cousin with similar cl …