title: First clinical description of an infant with interleukin-36-receptor antagonist deficiency successfully treated with anakinra.
abstract: YM is the first son of Tunisian consanguineous parents who developed, at 2 weeks of life, an erythematous and scaly eruption, with subsequent rapid evolution toward generalized pustular psoriasis. Afterward, cutaneous flares of diffuse erythematous rash and pustules involving the whole body appeared, with a once weekly periodicity. Intense irritability was present during flares without fever. Moreover, since 1 month of age the infant presented with diarrhea, dysphagia, and reduced feeding rate, with failure to thrive. Laboratory tests during acute flares showed marked leukocytosis, thrombocytosis, and anemia without C-reactive protein elevation. Skin biopsy and clinical presentation were consistent with pustular psoriasis; nevertheless, the patient did not respond to high-potency topical corticosteroids and retinoid acid. As the patient presented with repeated skin flares early after birth, as well as serious constitutional distress with failure to thrive, an autoinflammatory syndrome like interleukine-1-receptor antagonist deficiency or interleukin-36-receptor antagonist deficiency (DITRA) was considered. The hypothesis was reinforced by parental consanguinity, and absence of skin lesion improvement under standard topical treatment. Genetic analyses showed a homozygous mutation in the IL36RN gene (L27P), which represents the same mutation recently described in DITRA patients. At age 6 months we started treatment with the recombinant interleukin-1 receptor antagonist anakinra with efficacy both on constitutional symptoms and skin involvement. DITRA is a recently described autoinflammatory disease characterized by repeated flares of generalized pustular psoriasis, high fever, asthenia, and systemic inflammation. We report herein the first exhaustive clinical description of an infant with DITRA who was successfully treated with anakinra.
authors.affiliation: Department of Pediatrics and Pediatric Rheumatology, National Reference Centre for Auto-Inflammatory Diseases, University of Paris SUD, APHP, Hôpital de Bicêtre, 78, rue du Général Leclerc 94275 Le Kremlin-Bicêtre Cedex, France. linda.rossi@bct.aphp.fr.
authors.forename: Linda
authors.initials: L
authors.lastname: Rossi-Semerano
authors.forename: Maryam
authors.initials: M
authors.lastname: Piram
authors.forename: Christine
authors.initials: C
authors.lastname: Chiaverini
authors.forename: Dominique
authors.initials: D
authors.lastname: De Ricaud
authors.forename: Asma
authors.initials: A
authors.lastname: Smahi
authors.forename: Isabelle
authors.initials: I
authors.lastname: Koné-Paut
mesh_terms: D018501:Antirheumatic Agents / Q000627:therapeutic use*; D056660:Hereditary Autoinflammatory Diseases / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007223:Infant; D053590:Interleukin 1 Receptor Antagonist Protein / Q000172:deficiency / Q000235:genetics / Q000378:metabolism / Q000627:therapeutic use*; D008297:Male; D018123:Receptors, Interleukin / Q000037:antagonists & inhibitors / Q000172:deficiency* / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D018501:Antirheumatic Agents; D053590:Interleukin 1 Receptor Antagonist Protein; D018123:Receptors, Interleukin; C571244:interleukin-36 receptor, human
keywords: anti-IL-1 agent; autoinflammation; infant; interleukin-1; interleukin-36; psoriasis