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Review
. 2023 Sep 19:14:1264482.
doi: 10.3389/fimmu.2023.1264482. eCollection 2023.

Rituximab and improved nodular regenerative hyperplasia-associated non-cirrhotic liver disease in common variable immunodeficiency: a case report and literature study

Willem Roosens  1 , Frederik Staels  1 , Sien Van Loo  2 , Stephanie Humblet-Baron  3 , Isabelle Meyts  4   5 , Hadewijch De Samblanx  6 , Chris Verslype  7 , Hannah van Malenstein  7   8 , Schalk van der Merwe  7   8 , Wim Laleman  8   9 , Rik Schrijvers  1
Affiliations
Review

Rituximab and improved nodular regenerative hyperplasia-associated non-cirrhotic liver disease in common variable immunodeficiency: a case report and literature study

Willem Roosens et al. Front Immunol. .

Abstract

Common variable immunodeficiency (CVID) associated liver disease is an underrecognized and poorly studied non-infectious complication that lacks an established treatment. We describe a CVID patient with severe multiorgan complications, including non-cirrhotic portal hypertension secondary to nodular regenerative hyperplasia leading to diuretic-refractory ascites. Remarkably, treatment with rituximab, administered for concomitant immune thrombocytopenia, resulted in the complete and sustained resolution of portal hypertension and ascites. Our case, complemented with a literature review, suggests a beneficial effect of rituximab that warrants further research.

Keywords: common variable immune deficiency (CVID); inborn errors of immunity; nodular regenerative hyperplasia; non-cirrhotic portal hypertension; non-infectious complications; primary immunodeficiency; rituximab.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision.

Figures

Figure 1
Figure 1
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.
See this image and copyright information in PMC

References

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