Enhancing Early Detection of Primary Immunodeficiencies (PIDs)

Primary immunodeficiencies (PIDs) represent a diverse group of disorders stemming from genetic mutations that compromise various components of the immune system. These mutations can disrupt the development, maturation, or function of immune cells or soluble immune substances, leading to recurrent, severe, or atypical infections that may be life-threatening. Newborn screening for PIDs is a critical process that involves testing infants shortly after birth to detect potential immune system disorders. Current screening methods include T-cell receptor excision circle (TREC) and κ-deleting recombination excision circles (KRECs) assays, immunoglobulin measurement, complete blood count (CBC), and flow cytometry. Despite the importance of early PID detection for timely intervention and improved patient outcomes, these conditions are frequently underdiagnosed or diagnosed late, resulting in delayed treatment and increased morbidity. The implementation of newborn screening for PIDs is inconsistent globally, with variations in availability and scope across different regions. This highlights the need for enhanced early detection methods to ensure timely identification of infants with PIDs.

This research topic aims to improve the early detection of PIDs through newborn screening programs. By refining and implementing effective screening methods, healthcare providers can promptly identify infants with potential immune system disorders, facilitating early intervention and appropriate management strategies. The research will focus on enhancing screening panels, advancing genetic testing techniques, developing innovative biomarkers and assays, and integrating data and decision support systems to improve the accuracy and timeliness of PID diagnoses.

To gather further insights into the advancements in newborn screening methods for PIDs, we welcome articles addressing, but not limited to, the following themes:
- Improving PID screening accuracy and expanding screening panels.
- Advancements in genetic testing technologies, such as next-generation sequencing.
- Development of innovative biomarkers and assays, including TRECs and KRECs assays.
- Strategies for data integration and decision support systems to enhance diagnosis.
- Evaluation of the impact of newborn screening programs on patient outcomes.
- Implementation and evaluation of newborn screening programs for PIDs.
- Original research, reviews, perspectives, and clinical case studies on early detection strategies for PIDs

We welcome original research articles, reviews (narrative, scoping, and systematic reviews), perspectives, and clinical case studies that provide insights into the development, implementation, and evaluation of newborn screening programs for PIDs. Contributions should aim to advance our understanding and improve early detection strategies for PIDs, ultimately leading to improved patient outcomes and quality of life.