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How to recognize inborn errors of immunity in a child presenting with a malignancy: guidelines for the pediatric hemato-oncologist

Lookup NU author(s): Dr Christopher Bacon, Dr Simon BomkenORCiD



This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).


Inborn errors of immunity (IEI) are a group of disorders caused by genetically determined defects in the immune system, leading to infections, autoimmunity, autoinflammation and an increased risk of malignancy. In some cases, a malignancy might be the first sign of an underlying IEI. As therapeutic strategies might be different in these patients, recognition of the underlying IEI by the pediatric hemato-oncologist is important. This article, written by a group of experts in pediatric immunology, hemato-oncology, pathology and genetics, aims to provide guidelines for pediatric hemato-oncologists on how to recognize a possible underlying IEI and what diagnostic tests can be performed, and gives some consideration to treatment possibilities.

Publication metadata

Author(s): van der Werff ten Bosch J, Hlavackova E, Derpoorter C, Fischer U, Saettini F, Ghosh S, Farah R, Bogaert D, Wagener R, Loeffen J, Bacon CM, Bomken S

Publication type: Article

Publication status: Published

Journal: Pediatric Hematology and Oncology

Year: 2023

Volume: 40

Issue: 2

Pages: 131-146

Online publication date: 01/08/2022

Acceptance date: 27/05/2022

Date deposited: 17/05/2024

ISSN (print): 0888-0018

ISSN (electronic): 1521-0669

Publisher: Taylor & Francis


DOI: 10.1080/08880018.2022.2085830

PubMed id: 35913104


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Funder referenceFunder name
COST (European Cooperation in Science and Technology)