case_images: PMC10546204_01
case_images: Clinical, genetic, histological, and radiological findings in a patient with late-onset CVID and severe multi-organ immune dysregulation. (A) Pedigree with index patient (arrow) (family members not sequenced), Sanger confirmation of the TNFRSF13B variant (c.290C>G); (B) computed tomography (CT) images showing diffuse peribronchial and bronchiolar glass ground-glass opacities and traction bronchiectasis; splenomegaly (17 cm diameter) and mild hepatomegaly with regular liver contours and umbilical vein recanalization; (C) (from left-to-right) liver biopsy showing subtle nodularity of liver parenchyma stained with H&E; lobular and periportal mononuclear infiltrates (H&E) predominated by CD3+ T-cells (immunohistochemical CD3 staining); (D) Timeline of the patient's clinical course including clinical events and medication. CVID, common variable immunodeficiency; ITP, immune thrombocytopenia; IVIG, intravenous immunoglobulins; GLILD, granulomatous lymphocytic interstitial lung disease; TIPS, transjugular intrahepatic portosystemic shunt; NRH, Nodular regenerative hyperplasia; NCPH, Non-cirrhotic portal hypertension; TIPS, transjugular intrahepatic portosytemic shunt; MP, methylprednisolone; DEX, dexamethasone; RTX, rituximab.
case_images: fimmu-14-1264482-g001.jpg
case_images: PMC10546204_01_fimmu-14-1264482-g001.jpg
case_images: f1
case_images: We describe a 77-year-old female patient with late-onset CVID and severe multi-organ immune dysregulation, including splenomegaly, polyclonal lymphoproliferation, GLILD, and recurrent leuko- and thrombocytopenia ( Figure 1 ). New onset ascites (grade 3) led to a diagnosis of NCPH secondary to histologically proven NRH ( Figure 1C ). Pulmonary findings and patient-reported exercise capacity were stable over a 5-year follow-up period, yet without significant radiological or spirometric improvement - possibly due to longstanding fibrotic lung disease, considering the late age at diagnosis ( Figure E1 ).