title: Successful management of cryopyrin-associated periodic syndrome with canakinumab in infancy.
abstract: Neonatal onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic cutaneous and articular (CINCA) syndrome is a rare, early-onset autoinflammatory disorder and the most severe form of cryopyrin-associated periodic syndrome, which is associated with overproduction of interleukin (IL)-1β. This is a case report of a 70-day-old boy, who was diagnosed with NOMID/CINCA syndrome and who has been treated with anti-IL-1β monoclonal antibody (canakinumab) since then, despite his early infancy. The patient presented with fever, aseptic meningitis, and rash. The clinical manifestations combined with the elevated acute-phase reactants strengthened the suspicion of the diagnosis of NOMID/CINCA syndrome. Specific immunologic workup revealed high levels of serum amyloid A and IL-6. The clinical diagnosis was confirmed by the detection of a de novo mutation of the CIAS1/NLR3 gene (p.Thr348Met), and canakinumab was started at a dose of 4 mg/kg, higher than the recommended dose for older age. White blood cell, serum amyloid A, C-reactive protein, and IL-6 levels quickly decreased and became normal within a month, and the clinical condition of the patient improved significantly. The infant remains without recurrence of disease or further complications and with satisfactory mental development with anti-IL-1β monoclonal antibody treatment for >2 years. This report indicates the importance of early diagnosis of NOMID/CINCA syndrome and medication with IL-1 blockers as soon as possible for the improvement of the prognosis of cryopyrin-associated periodic syndrome and of a better patient outcome.
authors.affiliation: Department of Immunology-Histocompatibility, Specialized Center and Referral Center for Primary Immunodeficiencies-Pediatric Immunology, m.kanariou@gmail.com.
authors.forename: Maria
authors.initials: M
authors.lastname: Kanariou
authors.affiliation: Department of Immunology-Histocompatibility, Specialized Center and Referral Center for Primary Immunodeficiencies-Pediatric Immunology.
authors.forename: Sofia
authors.initials: S
authors.lastname: Tantou
authors.affiliation: Department of Immunology-Histocompatibility, Specialized Center and Referral Center for Primary Immunodeficiencies-Pediatric Immunology.
authors.forename: Ioanna
authors.initials: I
authors.lastname: Varela
authors.affiliation: Department of Immunology-Histocompatibility, Specialized Center and Referral Center for Primary Immunodeficiencies-Pediatric Immunology.
authors.forename: Maria
authors.initials: M
authors.lastname: Raptaki
authors.affiliation: B Neonatal ICU.
authors.forename: Chrissa
authors.initials: C
authors.lastname: Petropoulou
authors.affiliation: Imaging Department, and.
authors.forename: Ioannis
authors.initials: I
authors.lastname: Nikas
authors.affiliation: Department of Pediatric Dermatology, "Aghia Sophia" Children's Hospital, Athens, Greece.
authors.forename: Manthoula
authors.initials: M
authors.lastname: Valari
mesh_terms: D000911:Antibodies, Monoclonal / Q000627:therapeutic use*; D061067:Antibodies, Monoclonal, Humanized; D056587:Cryopyrin-Associated Periodic Syndromes / Q000175:diagnosis* / Q000188:drug therapy*; D019468:Disease Management; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D053583:Interleukin-1beta / Q000037:antagonists & inhibitors*; D008297:Male; D016896:Treatment Outcome
chemical_list: D000911:Antibodies, Monoclonal; D061067:Antibodies, Monoclonal, Humanized; D053583:Interleukin-1beta; C541220:canakinumab
keywords: CAPS; CINCA; NOMID; aseptic meningitis; autoinflammatory disorder; canakinumab; cryopyrin; interleukin 1β