先天性免疫缺陷 (IEI) 包括多种遗传异常，这些异常影响先天和适应性反应的不同组成部分，容易患传染病、自身免疫和恶性肿瘤。不同的研究（主要是针对成人）报告称，IEI 患者的癌症患病率较高。然而，部分由于大多数 IEI 亚型都很罕见（国际免疫学会联盟原发性免疫缺陷委员会将其分为十类），因此很难评估大量患者的风险，尤其是在儿童时期记录来自单一转诊机构的儿科队列中的癌症患病率，评估其风险以及每个 IEI 亚组内的肿瘤类型。对 1989 年至 2022 年在某个时间点患上癌症的 IEI 患者的临床记录进行了广泛审查在 1642 名 IEI 诊断患者中，有 34 名患者在 16 岁之前患上癌症，患病率 (2.1%) 显着高于一般年龄匹配人群 (0.22)。血液肿瘤（主要是淋巴瘤）是最常见的恶性肿瘤。这项研究是专门针对儿科 IEI 病例的少数报告之一，不仅描述了与年龄匹配的一般人群相比，患恶性肿瘤的风险增加（必须考虑这一事实）免疫学家在随访期间考虑在内），而且还包括不同肿瘤与特定 IEI 亚型的关联，从而揭示了所涉及的可能机制。© 2024。作者获得 Springer Science Business Media, LLC 的独家许可，部分施普林格自然。

Inborn Errors of Immunity (IEI) comprise several genetic anomalies that affect different components of the innate and adaptive responses, predisposing to infectious diseases, autoimmunity and malignancy. Different studies, mostly in adults, have reported a higher prevalence of cancer in IEI patients. However, in part due to the rarity of most of these IEI subtypes (classified in ten categories by the Primary Immunodeficiency Committee of the International Union of Immunological Societies), it is difficult to assess the risk in a large number of patients, especially during childhood.To document the cancer prevalence in a pediatric cohort from a single referral institution, assessing their risk, together with the type of neoplasia within each IEI subgroup.An extensive review of clinical records from 1989 to 2022 of IEI patients who at some point developed cancer before the age of sixteen.Of a total of 1642 patients with IEI diagnosis, 34 developed cancer before 16 years of age, showing a prevalence (2.1%) significantly higher than that of the general age matched population (0.22). Hematologic neoplasms (mostly lymphomas) were the most frequent malignancies.This study represents one of the few reports focused exclusively in pediatric IEI cases, describing not only the increased risk of developing malignancy compared with the age matched general population (a fact that must be taken into account by immunologists during follow-up) but also the association of the different neoplasms with particular IEI subtypes, thus disclosing the possible mechanisms involved.© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.