Figure 1.

Patient clinical presentation. (A) Left picture shows the face of the patient with alopecia totalis, edema and Cushingoid facies due to prolonged steroid treatment. Right picture shows trachyonychia of the toenails. (B) Pedigree of the family showing two healthy non-consanguineous parents and the patient (arrow) with c.2611C>T mutation in NFKB2. Sanger tracings of each individual in the family are presented. (C) NK cell cytotoxic function measured by ⁵¹Cr release assay. Left graph shows antibody dependent cellular cytotoxicity (ADCC) measured against Raji B cell targets in in the presence (dashed line) and absence (solid line) of rituximab. Right shows natural cytotoxicity against K562 targets in the presence (dashed line) and absence (solid line) of IL-2 stimulation. Due to sample availability and transport limitations this demonstrates a single assay performed in triplicate. (D) Electron microscopy of renal biopsy showing pedicellar effacement and few mesangial deposits (E) Left picture shows a chest X ray and chest CT scan taken during the patient's final stage of disease showing multiple bilateral foci of alveolar compromise with extensive consolidation of bilateral basal lobes, superior left lobe and medial lobe. (F) Graphic representation showing variations in CMV titers in blood (in blue) and proteinuria (in orange), Black arrows indicate nephrotic syndrome (NS) reactivations. Immunosuppressive and antiviral treatments are indicated in colored boxes as they were administered during the course of disease.