Cancer Prevalence in Children with Inborn Errors of Immunity: Report from a Single Institution

Area of Science:

• Pediatric Immunology
• Oncology
• Genetics

Background:

• Inborn Errors of Immunity (IEI) are genetic disorders affecting immune responses, increasing risks of infections, autoimmunity, and malignancy.
• Previous studies, mainly in adults, indicate a higher cancer prevalence in IEI patients.
• Assessing cancer risk in children with rare IEI subtypes is challenging due to limited data.

Purpose of the Study:

• To determine cancer prevalence in a pediatric cohort with Inborn Errors of Immunity.
• To evaluate cancer risk and specific neoplasia types within different IEI subgroups.
• To provide insights for improved clinical management and follow-up of pediatric IEI patients.

Main Methods:

• Retrospective review of clinical records from 1989 to 2022.
• Inclusion criteria: IEI diagnosis and development of cancer before age 16.
• Analysis of cancer types and their association with specific IEI subtypes.

Main Results:

• A total of 1642 IEI patients were analyzed; 34 (2.1%) developed cancer before age 16.
• This prevalence is significantly higher than the 0.22% in the age-matched general population.
• Hematologic neoplasms, predominantly lymphomas, were the most common malignancies observed.

Conclusions:

• Pediatric IEI patients face a substantially increased risk of malignancy compared to the general population.
• Specific IEI subtypes are associated with particular types of cancer, suggesting underlying mechanisms.
• Immunologists should consider this elevated cancer risk during the long-term follow-up of children with IEI.