Unilateral necrotising toxoplasmic retinochoroiditis as the main clinical manifestation of a peptide transporter (TAP) deficiency

Congenital HLA class I deficiency is a rare disease frequently resulting in chronic inflammation of the respiratory tract, and/or skin granulomas.^1,2 The deficiency may be unnoticed for decades, so pathological outcome is relatively unpredictable.³ We here describe a 14 year old patient with a severe ocular toxoplasmosis who is HLA class I deficient, as a result of a homozygous mutation in the gene encoding one of the two subunits of the peptide transporter associated with antigen processing (TAP). We propose that such a defect should be investigated in patients with severe ocular toxoplasmosis without acquired immunodeficiency.

Case report

At the time of referral, the patient did not have any particular medical history except an exaggerated reaction to an intradermal tuberculin test 1 year earlier. His right eye displayed a strong reduction of acuity with anterior and posterior inflammatory lesions and pain. There was corneal inflammation with flare in the anterior chamber, anterior uveitis with cellular deposits on the corneal endothelium (keratic precipitates) but without posterior synechiae and grade B3 vitritis. …