Fig. 1
From: Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies
Representative clinical findings in patients with monogenic SLE. Panel A – Occipital and lower extremities lesions noted in patients 1A with C1QC mutation, reveals palmoplantar erosive erythemic plaques and scarring alopecia. Panel B – Abnormal brain MRI scan of patient 2B with PTEN mutation shows non-specific parieto-occipital lesions affecting the white matter and cortical dysplasia. Panel C – Patient 3C with SLC7A7 and MAN2B1 mutations, exhibits a palmar erythema and diffuse abdominal papulosquamous rash. Panel D – Lung wedge biopsy of patient 3C shows: (a) sheets of large vacuolated macrophages in the interstitium (asterisks) and eosinophilic intra-alveolar exudate (arrow) H&E X 100. (b) The intra-alveolar exudate contains cholesterol clefts and it is PAS-positive and diastase resistant (PAS-diastase stain X 200). (c) Mild- to moderate alveolar wall thickening (H&E × 100). (d) Mild fibrosis (Masson trichrome stain × 100). (e) Diffuse inflammatory T-cell infiltration (CD3 immunostain × 200). (f) B- cell aggregates (CD20 immunostain × 200). (g) Part of alveolar spaces contain hemosiderin laden macrophages (Prussian blue stain × 200). Panel E – Chest CT angiography in patient 4D with STAT1 gain of function mutation, shows dilated ascending aorta with severe calcifications