Table 1 Summary of genetic results and treatment reported in cases of JIA associated with HI

Auriti et al, (2020) Case 1 [20]

unrelated

compoud heterozygosity c.4036delG and c.7444C > T genomic variants in the ABCA12 gene

NSAIDs (ineffective); intra articular triamcinolone hexacetonide 1 mg/kg) at 2 years

Auriti et al, (2020) Case 2 [20]

unrelated

compound heterozygosity c.224 T > A, c6610C > T, C164G > A c.346G > T in ABCA12 gene; variant c.817G > A in heterozygosity in TGM1 gene

Ibuprofen (effective, but relapse at discontinuation); repeated IACI and weekly MTX, at 2 months: clinical and radiological resolution of all joint except both ankles because of anterolateral compartments tendon synovitis

Clement et al (2007) [21]; Rajpopat et al (2011) [6]; Raghuvanshi S et al (2015) [22]

unknown

ABCA12 mutation

NSAIDs (ineffective); Etoricoxib (temporarily effective); MTX (temporarily effective) Etanercept; total Hip arthroplasty by the age of 17* (see Rajpopat et al. Arch. Dermatol, June 2011); subsequently tried on adalimumab, MTX, then leflunomide. Reported worsening of skin condition and increased skin infections

Rajpopat et al (2011) [6],

unknown

Unknown

NSAIDs for 1 year

Raghuvanshi S, et al (2015) [22], Rajpopat et al (2011) [6]

unknown

Unknown

Intensive physiotherapy, splints and intra-articular injections.

Chan et al (2003) [23]

unrelated

Unknown

Prednisolone. Ibuprofen was started concurrently, and maintained until she was 11 years of age, then replaced by rofecoxib. MTX was added at the age of 9 years.