What question did this study set out to answer?

To evaluate genetic findings in children with suspected inborn errors of immunity and assess the effectiveness of next-generation sequencing.

Genetic analysis of children with suspected immunodeficiency: mimickers of inborn errors of immunity

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Evaluation of genetic findings and the role of sequencing in children with suspected immune disorders, suggesting improved diagnosis and management.

To evaluate genetic findings in children with suspected inborn errors of immunity and assess the effectiveness of next-generation sequencing.
Retrospective analysis of 91 pediatric patients with suspected IEI
Application of next-generation sequencing techniques: whole-exome sequencing, targeted gene panels
Classification based on detected genetic variants: IEI-related and non-IEI-related
Pathogenic variants linked to IEI were identified in 28 patients (35.4%)
Non-IEI-related pathogenic variants were found in 12 patients (15.2%)
39 patients had undetected disease-causing variants, signifying a need for further investigation.

Yılmaz et al. (2026) studied this question.

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Evaluation of genetic findings and the role of sequencing in children with suspected immune disorders, suggesting improved diagnosis and management.