Deficiency of Interleukin-1 Receptor Antagonist: A Case with Late Onset Severe Inflammatory Arthritis, Nail Psoriasis with Onychomycosis and Well Responsive to Adalimumab Therapy

Table 1

A summary of the clinical and laboratory features during the disease course.

Age (years)	Clinical and laboratory data during disease course
6	She had been diagnosed with bilaterally hand and foot onychomycosis and received anti-fungal therapies with no improvement for about five years
11	Pain, swelling, and limited movement of left elbow, ankles, and both knees and diagnosed with juvenile idiopathic arthritis at a public hospital
11	Treatment with corticosteroids, methotrexate and sulfasalazine for one year
12	Admission to Ege University Pediatric Rheumatology Clinic because of not responding to above treatments
12	Limitation in left elbow dorsiflexion, in hip abduction and swelling in both knees, heel pain with tenderness of achilles tendon, dystrophic nails of hand and feet with onychomycosis accompanied with nail psoriasis
12	Very high acute phase reactant levels and hypergammaglobulinemia
12	Diagnosed with refractory polyarticular juvenile idiopathic arthritis and nail psoriasis with onychomycosis. She was started on treatment with etanercept (Enbrel), methotrexate and itraconazole with good response for a while for arthritic problems, but not for dermatologic disorders.
13	Because of inadequate response, prednisolone at a dose of 1 mg/kg/day was added and also resulted in substantial improvement
20	No improvement for nail psoriasis with onychomycosis was observed with Etanercept, methotrexate and sulfasalazine therapies for about seven to eight years. In addition, she developed a very severe arthritis in her coxofemoral joint with sacroiliitis and ankylosis.
20	A homozygous premature stop codon mutation c.85C>T (p.Arg29Ter) in IL1RN gene was identified and confirmed by Sanger sequencing.
21	Treatment with canakinumab 150 mg/4 weeks subcutaneously was given for 9 months and arthritis features slightly recovered, however nail disease did not resolve but slightly improved and acute phase reactants had never decreased to normal levels.
22	Biologic treatment was changed to adalimumab 40 mg once every 2 weeks
22	Full response was achieved for arthritis symptoms after the 3rd injection. Her inflammatory markers regressed to normal values.
24	She is now well on adalimumab, colchicum dispert (1 gm/day) and subcutaneous methotrexate (20 mg/week) therapy.