Erfahrungen mit IL-1-Blockade in einem Fall mit Majeed-Syndrom und Diagnosestellung im Erwachsenenalter
Author:
Publisher
Springer Science and Business Media LLC
Subject
Rheumatology
Link
https://link.springer.com/content/pdf/10.1007/s00393-023-01465-9.pdf
Reference10 articles.
1. Cox AJ, Zhao Y, Ferguson PJ (2017) Chronic recurrent multifocal osteomyelitis and related diseases—update on pathogenesis. Curr Rheumatol Rep 19:18
2. Donkor J, Zhang P, Wong S, O’Loughlin L, Dewald J, Kok BPC et al (2009) A conserved serine residue is required for the phosphatidate phosphatase activity but not the transcriptional coactivator functions of lipin‑1 and lipin‑2. J Biol Chem 284:29968–29978
3. Lorden G, Sarjuan-Gardial, de Pablo N, Mena CG et al (2017) Lipin‑2 regulates NLRP3 inflammasome by affecting P2X7 receptor activation. J Exp Med 214(2):511–528
4. Majeed HA, Kalaawi M, Mohanty D, Teebi AS, Tunjekar MF, Al-Gharbawy F et al (1989) Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. J Pediatr 115:730–734
5. Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A et al (2005) Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet 42:551–557
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