Clinical case presentation. The symptoms and disease phenotypes (in filled boxes) and predominant laboratory abnormalities (in empty boxes) are depicted in the upper panel, the time axis shows the patient’s age in years (ys). Treatment phases with various agents are shown in the lower panel (boxes with triangles or trapezoids to indicate shorter durations of treatment courses than the boxes suggest). The dashed lines and shaded area on the right side (from 25 years of age and onward) indicate future treatment options; the asterisk indicates the time point of the genetic diagnosis. allo-HSCT, allogeneic hematopoietic stem cell transplantation; ALPS, autoimmune lymphoproliferative syndrome; GLILD, granulomatous lymphocytic interstitial pneumonitis; HClo, hydroxychloroquine; IgG, immunoglobulin G; IVIG, high-dose intravenous immunoglobulin G; MMF, mycophenolate mofetil; NK, natural killer cells; pred, prednisolone; predom. cITP, predominantly chronic immune thrombocytopenia (as part of multilineage autoimmune cytopenia); sirol, sirolimus.