Abstract

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.

 抽象的

先天性免疫缺陷 (IEI) 是一组由遗传决定的免疫系统缺陷引起的疾病，导致感染、自身免疫、自身炎症和恶性肿瘤风险增加。在某些情况下，恶性肿瘤可能是潜在 IEI 的第一个迹象。由于这些患者的治疗策略可能有所不同，因此儿科血液肿瘤学家对潜在的 IEI 的认识非常重要。本文由儿科免疫学、血液肿瘤学、病理学和遗传学领域的专家撰写，旨在为儿科血液肿瘤学家提供有关如何识别可能的潜在 IEI 以及可以进行哪些诊断测试的指南，并给出了一些考虑治疗的可能性。