A novel IL36RN/IL1F5 homozygous nonsense mutation, p.Arg10X, in a Japanese patient with adult-onset generalized pustular psoriasis

British Journal of Dermatology

Volumn 167, Issue 3, 2012, Pages 699-701

  Sugiura, K ^a   Takeichi, T ^a   Kono, M ^a   Ogawa, Y ^a   Shimoyama, Y ^b   Muro, Y ^a   Akiyama, M ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Inazawa City Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; C REACTIVE PROTEIN; CYTOKINE RECEPTOR ANTAGONIST; GENOMIC DNA; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERLEUKIN 1; INTERLEUKIN 36 RECEPTOR ANTAGONIST; MITOGEN ACTIVATED PROTEIN KINASE; UNCLASSIFIED DRUG;

ACNE; AGED; CASE REPORT; DNA SPLICING; ERYTHEMA; GENETIC DISORDER; HOMOZYGOSITY; HOSPITALIZATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFECTION; JAPANESE; LETTER; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSORIASIS VULGARIS; PUSTULAR PSORIASIS; PUSTULE; PUSTULOSIS PALMOPLANTARIS; SIGNAL TRANSDUCTION; SKIN BIOPSY;

AGE OF ONSET; AGED; CODON, NONSENSE; HOMOZYGOTE; HUMANS; INTERLEUKINS; MALE; PSORIASIS;

EID: 84865584913     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2012.10953.x     Document Type: Letter

References (9)

1. Marrakchi S, Guigue P, Renshaw BR, et al. Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med 2011; 365: 620-8.
2. Onoufriadis A, Simpson MA, Pink AE, et al. Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis. Am J Hum Genet 2011; 89: 432-7.
3. Mulero JJ, Pace AM, Nelken ST, et al. IL1HY1: a novel interleukin-1 receptor antagonist gene. Biochem Biophys Res Commun 1999; 263: 702-6. (Pubitemid 29490690)
4. Smith DE, Renshaw BR, Ketchem RR, et al. Four new members expand the interleukin-1 superfamily. J Biol Chem 2000; 275: 1169-75. (Pubitemid 30051168)
5. Dinarello C, Arend W, Sims J, et al. IL-1 family nomenclature. Nat Immunol 2010; 11: 973.
6. Debets R, Timans JC, Homey B, et al. Two novel IL-1 family members, IL-1 delta and IL-1 epsilon, function as an antagonist and agonist of NF-kappa B activation through the orphan IL-1 receptor-related protein 2. J Immunol 2001; 167: 1440-6. (Pubitemid 32703142)
7. Towne JE, Garka KE, Renshaw BR, et al. Interleukin (IL)-1F6, IL-1F8, and IL-1F9 signal through IL-1Rrp2 and IL-1RAcP to activate the pathway leading to NF-kappaB and MAPKs. J Biol Chem 2004; 279: 13677-88. (Pubitemid 38468896)
8. Sahashi K, Masuda A, Matsuura T, et al. In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites. Nucleic Acids Res 2007; 35: 5995-6003. (Pubitemid 350018565)
9. Blumberg H, Dinh H, Trueblood ES, et al. Opposing activities of two novel members of the IL-1 ligand family regulate skin inflammation. J Exp Med 2007; 204: 2603-14. (Pubitemid 350044786)