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

Authors

WERFF ten Bosch Jutte van der HLAVÁČKOVÁ Eva DERPOORTER Charlotte FISCHER Ute SAETTINI Francesco GHOSH Sujal FARAH Roula BOGAERT Delfien WAGENER Rabea LOEFFEN Jan BACON Chris M BOMKEN Simon

Year of publication 2023
Type Article in Periodical
Magazine / Source Pediatric Hematology and Oncology
MU Faculty or unit

Faculty of Medicine

Citation
web https://www.tandfonline.com/doi/full/10.1080/08880018.2022.2085830
Doi http://dx.doi.org/10.1080/08880018.2022.2085830
Keywords Inborn errors of immunity; investigation; malignancy; pediatric; primary immunodeficiency
Description 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.

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