About this Research Topic
Primary immunodeficiencies (PIDs) are a heterogeneous group of disorders caused by genetic mutations that affect different components of the immune system. These genetic mutations can interfere with the growth, maturation, or functioning of immune cells or substances that are soluble in the immune system. These patients may experience recurrent, severe, or unusual infections that can be life-threatening. Newborn screening for PIDs is a process by which infants are tested shortly after birth to identify potential immune system disorders. Common screening methods include:
1. T-cell receptor excision circle (TREC) and κ-deleting recombination excision circles (KRECs) assay to measure the presence of TREC and KREC molecules in dried blood spots indicating the production of new T- and B- cells.
2. Immunoglobulin measurement to identify potential humoral immune deficiencies.
3. Complete blood count (CBC) to indicate potential immune system disorders.
4. Flow cytometry to identify abnormalities in immune cell populations
The early identification of PIDs is crucial for timely intervention and improved patient outcomes. However, PIDs are often underdiagnosed or diagnosed late, leading to delayed treatment initiation and increased morbidity. There is a need to enhance early detection methods to ensure that infants with PIDs are identified as early as possible. Newborn screening for PIDs is not universally implemented in all regions. The availability and scope of screening programs vary globally, and each country or healthcare system establishes its own guidelines and protocols. The goal of this research topic is to improve the early detection of PIDs through newborn screening programs. By implementing effective screening methods, healthcare providers can identify infants with potential immune system disorders promptly, enabling early intervention and appropriate management strategies. Some approaches to achieving the goal:
1. Enhancing Screening Panels to improve overall screening accuracy.
2. Advancements in Genetic Testing like Next-generation sequencing techniques to facilitate early detection and appropriate management.
3. Innovative Biomarkers and Assays like TRECs and KRECs assay in dried blood spots
4. Data Integration and Decision Support Systems to make timely and accurate PID diagnoses
This Research Topic aims to explore advancements in newborn screening methods for the early detection of primary immunodeficiencies (PIDs). We invite contributions that address various themes related to improving PID screening accuracy, expanding screening panels, developing innovative biomarkers and assays, integrating data for enhanced diagnosis, and implementing decision support systems. Manuscripts focusing on recent advances in genetic testing technologies, novel screening approaches, data integration strategies, and the impact of newborn screening programs on patient outcomes are particularly encouraged.
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.
1. T-cell receptor excision circle (TREC) and κ-deleting recombination excision circles (KRECs) assay to measure the presence of TREC and KREC molecules in dried blood spots indicating the production of new T- and B- cells.
2. Immunoglobulin measurement to identify potential humoral immune deficiencies.
3. Complete blood count (CBC) to indicate potential immune system disorders.
4. Flow cytometry to identify abnormalities in immune cell populations
The early identification of PIDs is crucial for timely intervention and improved patient outcomes. However, PIDs are often underdiagnosed or diagnosed late, leading to delayed treatment initiation and increased morbidity. There is a need to enhance early detection methods to ensure that infants with PIDs are identified as early as possible. Newborn screening for PIDs is not universally implemented in all regions. The availability and scope of screening programs vary globally, and each country or healthcare system establishes its own guidelines and protocols. The goal of this research topic is to improve the early detection of PIDs through newborn screening programs. By implementing effective screening methods, healthcare providers can identify infants with potential immune system disorders promptly, enabling early intervention and appropriate management strategies. Some approaches to achieving the goal:
1. Enhancing Screening Panels to improve overall screening accuracy.
2. Advancements in Genetic Testing like Next-generation sequencing techniques to facilitate early detection and appropriate management.
3. Innovative Biomarkers and Assays like TRECs and KRECs assay in dried blood spots
4. Data Integration and Decision Support Systems to make timely and accurate PID diagnoses
This Research Topic aims to explore advancements in newborn screening methods for the early detection of primary immunodeficiencies (PIDs). We invite contributions that address various themes related to improving PID screening accuracy, expanding screening panels, developing innovative biomarkers and assays, integrating data for enhanced diagnosis, and implementing decision support systems. Manuscripts focusing on recent advances in genetic testing technologies, novel screening approaches, data integration strategies, and the impact of newborn screening programs on patient outcomes are particularly encouraged.
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.
Keywords: Newborn screening, Primary immunodeficiencies, Inborn Errors of Immunity, Early detection, Genetic testing, Biomarkers, TRECs, KRECs
Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.
