First clinical description of an infant with interleukin-36-receptor antagonist deficiency successfully treated with anakinra

Pediatrics

Volumn 132, Issue 4, 2013, Pages

  Rossi Semerano, Linda ^a   Piram, Maryam ^a   Chiaverini, Christine ^b   De Ricaud, Dominique ^c   Smahi, Asma ^d   Koné Paut, Isabelle ^a  

^a BICÊTRE HOSPITAL   (France)

^b CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^c UNIVERSITY HOSPITAL OF NICE   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Anti IL 1 agent; Autoinflammation; Infant; Interleukin 1; Interleukin 36; Psoriasis

Indexed keywords

CORTICOSTEROID; NARCOTIC ANALGESIC AGENT; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; RETINOIC ACID;

APGAR SCORE; ARTICLE; AUTOINFLAMMATORY DISEASE; BIRTH WEIGHT; CASE REPORT; CLINICAL FEATURE; DIARRHEA; DISEASE EXACERBATION; DRUG DOSE INCREASE; DYSPHAGIA; EPIDERMIS HYPERPLASIA; ERYTHROCYTE SEDIMENTATION RATE; ERYTHRODERMA; ESOPHAGOGASTRODUODENOSCOPY; EXOSTOSIS; FAILURE TO THRIVE; FEEDING DISORDER; FIBERSCOPE ENDOSCOPY; GENE; GENE MUTATION; GENETIC ANALYSIS; GEOGRAPHIC TONGUE; HEAD CIRCUMFERENCE; HEIGHT; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; IL36RN GENE; INFANT; INJECTION SITE PAIN; INTERLEUKIN 36 RECEPTOR ANTAGONIST DEFICIENCY; IRRITABILITY; LEUKOCYTE COUNT; LEUKOCYTOSIS; MALE; PAIN; PAPILLOMATOSIS; PERINEUM; PHYSICAL EXAMINATION; PRION DISEASE; PRIORITY JOURNAL; SKIN BIOPSY; STOMACH ULCER; THROMBOCYTOSIS;

EID: 84885089223     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2012-3935     Document Type: Article

References (11)

1. Marrakchi S, Guigue P, Renshaw BR, et al. Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med. 2011;365(7):620-628
2. Aksentijevich I, Masters SL, Ferguson PJ, et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med. 2009;360(23):2426-2437
3. 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(3):432-437
4. Kumar S, McDonnell PC, Lehr R, et al. Identification and initial characterization of four novel members of the interleukin-1 family. J Biol Chem. 2000;275(14):10308-10314
5. Reddy S, Jia S, Geoffrey R, et al. An autoinflammatory disease due to homozygous deletion of the IL1RN locus. N Engl J Med. 2009;360(23):2438-2444
6. Dinarello CA. Biologic basis for interleukin-1 in disease. Blood. 1996;87(6):2095-2147
7. Viguier M, Guigue P, Pagès C, Smahi A, Bachelez H. Successful treatment of generalized pustular psoriasis with the interleukin-1-receptor antagonist Anakinra: lack of correlation with IL1RN mutations. Ann Intern Med. 2010;153(1):66-67
8. Kluger N, Gil-Bistes D, Guillot B, Bessis D. Efficacy of anti-interleukin-1 receptor antagonist anakinra (Kineret®) in a case of refractory Sweet's syndrome. Dermatology. 2011;222(2):123-127
9. Lipsker D, Perrigouard C, Foubert A, Cribier B. Anakinra for difficult-to-treat neutrophilic panniculitis: IL-1 blockade as a promising treatment option for neutrophil-mediated inflammatory skin disease. Dermatology. 2010;220(3):264-267
10. Kieffer C, Cribier B, Lipsker D. Neutrophilic urticarial dermatosis: a variant of neutrophilic urticaria strongly associated with systemic disease: report of 9 new cases and review of the literature. Medicine (Baltimore). 2009;88(1):23-31
11. Jung N, Hellmann M, Hoheisel R, et al. An open-label pilot study of the efficacy and safety of anakinra in patients with psoriatic arthritis refractory to or intolerant of methotrexate (MTX). Clin Rheumatol. 2010; 29(10):1169-1173