Life-threatening hepatic complications in children with ADA-SCID

Ridhima Aggarwal; Alison Mansfield; Jinhua Xu-Bayford; Claire Booth; Konstantinos Vazouras

doi:10.70962/jhi.20260112

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Life-threatening hepatic complications in children with ADA-SCID

Ridhima Aggarwal, Alison Mansfield, Jinhua Xu-Bayford, Claire Booth, Konstantinos Vazouras

Journal of Human Immunity2026doi:10.70962/jhi.20260112

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Abstract

We describe two cases of ADA-SCID complicated by hepatoblastoma and infantile hepatic hemangiomatosis. We highlight the multidisciplinary management of these severe liver manifestations and the modifications required to deliver definitive corrective therapy, including gene therapy and hematopoietic stem cell transplantation.

Authors

Ridhima Aggarwal#1 Alison Mansfield#2 Jinhua Xu-Bayford#3 Claire Booth#4 Konstantinos Vazouras#5

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External reference records

Adenosine deaminase deficiency - More than just an immunodeficiency

10.3389/fimmu.2016.00314 · 2016

Novel advances in understanding of molecular pathogenesis of hepatoblastoma: A Wnt/β-catenin perspective

10.3727/105221616x693639 · 2016

Hepatocellular carcinoma in ADA-SCID patient after hematopoietic stem cell transplantation

10.1097/mph.0000000000002661 · 2023

Infantile hepatic hemangioma: Current state of the art, controversies, and perspectives

10.1007/s00431-019-03504-7 · 2020

Polyethylene glycol-modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency

10.1016/j.jaci.2009.07.003 · 2009

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