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

Willem Roosens; Frederik Staels; Sien Van Loo; Stephanie Humblet-Baron; Isabelle Meyts; Hadewijch De Samblanx; Chris Verslype; Hannah van Malenstein; Schalk van der Merwe; Wim Laleman; Rik Schrijvers

doi:10.3389/fimmu.2023.1264482

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

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

Authors

Willem Roosens¹, Frederik Staels¹, Sien Van Loo², Stephanie Humblet-Baron³, Isabelle Meyts^{4

5}, Hadewijch De Samblanx⁶, Chris Verslype⁷, Hannah van Malenstein^{7

8}, Schalk van der Merwe^{7

8}, Wim Laleman^{8

9}, Rik Schrijvers¹

Affiliations

¹ Department of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, KU Leuven, Leuven, Belgium.
² Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
³ Department of Microbiology, Immunology and Transplantation, Laboratory of Adaptive Immunology, KU Leuven, Leuven, Belgium.
⁴ Department of Microbiology, Immunology and Transplantation Laboratory of Inborn Errors of Immunity, KU Leuven, Leuven, Belgium.
⁵ Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
⁶ Department of Hematology, Ziekenhuis Geel, Geel, Belgium.
⁷ Department of Gastroenterology and Hepatology, Section of Liver and Biliopancreatic disorders, University Hospitals Leuven, Leuven, Belgium.
⁸ Department of Chronic Diseases, Metabolism and Aging (CHROMETA), Laboratory of Hepatology, KU Leuven, Leuven, Belgium.
⁹ Medizinische Klinik B, Universitätsklinikum Münster, Münster University, Münster, Germany.

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.

Publication types

Review
Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Ascites
Common Variable Immunodeficiency* / complications
Common Variable Immunodeficiency* / drug therapy
Humans
Hyperplasia / drug therapy
Hypertension, Portal* / drug therapy
Hypertension, Portal* / etiology
Rituximab / therapeutic use

Substances

Rituximab

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. FS (11B5520N) is a fellow of the Fonds Wetenschappelijk Onderzoek - Vlaanderen National Fund for Scientific Research (FWO). RS and IM are FWO senior clinical investigator fellow (1805518N and 1805523N, 1805821N) and are members of the European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (Project ID No 739543). RS is supported by the FWO project financing (G054022N).