Case reports The first patient (P1) was male, with disease-onset at age 12 years. The patient presented with periorbital oedema after tonsillitis, accompanied by reduced urine output and recurrent fevers. Laboratory investigations showed proteinuria, haematuria, hypoalbuminaemia, leukopaenia, mild anaemia and hypocomplementaemia. ANA and anti-dsDNA autoantibodies were positive. Kidney biopsy showed diffuse proliferative lupus nephritis with crescent formation. The second patient (P2) …
Read More »Loss-of-function mutations in PLD4 lead to systemic lupus erythematosus
