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01-05-2020 | Primary Immunodeficiency | Review

Primary immunodeficiencies and their associated risk of malignancies in children: an overview

Authors: Samuele Renzi, Karin Petra Sabine Langenberg-Ververgaert, Nicolas Waespe, Salah Ali, Jack Bartram, Orli Michaeli, Julia Upton, Michaela Cada

Published in: European Journal of Pediatrics | Issue 5/2020

Abstract

Primary immunodeficiency disorders represent a heterogeneous spectrum of diseases, predisposing to recurrent infections, allergy, and autoimmunity. While an association between primary immunodeficiency disorders and increased risk of cancer has been suggested since the 1970s, renewed attention has been given to this topic in the last decade, largely in light of the availability of large registries as well as advances in next generation sequencing. In this narrative review, we will give an insight of the primary immunodeficiencies that are commonly responsible for the greater number of cancers in the primary immunodeficiency disorders population. We will describe clinical presentations, underlying genetic lesions (if known), molecular mechanisms for carcinogenesis, as well as some management considerations. We will also comment on the future directions and challenges related to this topic.

Conclusion: The awareness of the association between several primary immunodeficiencies and cancer is crucial to provide the best care for these patients.

What is Known: • Patients with primary immunodeficiency have an increased risk of malignancy. The type of malignancy is highly dependent on the specific primary immunodeficiency disorder.
What is New: • Survival in patients with primary immunodeficiency disorders has been improving, and conversely also their lifetime risk of malignancy. • International collaboration and multinational registries are needed to improve our knowledge and therapeutic strategies.

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Title: Primary immunodeficiencies and their associated risk of malignancies in children: an overview
Authors: Samuele Renzi
Karin Petra Sabine Langenberg-Ververgaert
Nicolas Waespe
Salah Ali
Jack Bartram
Orli Michaeli
Julia Upton
Michaela Cada
Publication date: 01-05-2020
Publisher: Springer Berlin Heidelberg
Keywords: Primary Immunodeficiency
Lymphoma
Myelodysplastic Syndrome
Non-Hodgkin Lymphoma
Ataxia Telangiectasia
Wiskott-Aldrich Syndrome
Published in: European Journal of Pediatrics / Issue 5/2020
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-020-03619-2

At a glance: The STEP trials

Springer Medicine

Primary immunodeficiencies and their associated risk of malignancies in children: an overview

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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