JIA-like in a boy with Ataxia-telangiectasia

Results At first evaluation he had arthritis of both knees, left ankle and 4th MTF of the left foot and tenosynovitis of second finger of the right hand. His immune evaluation revealed an important CD4 naif lymphopenia, abnormal proliferative responses to mitogens, skewed Vbeta repertoire and expanded gammadelta T cells, as well as conserved humoral response. Laboratory investigations showed erythrocyte sedimentation rate 25 mm/hr, Creactive protein 14.5 mg/l, antinuclear antibodies positive (1/80), anti-cyclic citrullinated protein antibodies and rheumatoid factor were negative. A JIA-like disease was assumed, he started ibuprofen (30 mg/kg/day), and a chemical synovectomy with triamcinolone hexacetonide (TH) was performed (knees and ankle). Ten months after diagnosis, knees and left ankle remain without active synovitis, but active 4th MTP of left foot and tenosynovitis of 2nd finger of right hand persists despite moderate improvement. Taking in account the underlying immune defect methotrexate was not an option and hydroxichloroquine (5 mg/kg/day) was started.