Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice
| Autor: | Jovanka R King, Lennart Hammarström |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Newborn screening
0301 basic medicine medicine.medical_specialty Pediatrics T-Lymphocytes Immunology Population Receptors Antigen T-Cell Receptors Antigen B-Cell History 21st Century Asymptomatic 03 medical and health sciences Neonatal Screening 0302 clinical medicine Medical microbiology Primary immunodeficiency diseases Lymphopenia Humans Immunology and Allergy Medicine TREC education Whole genome sequencing B-Lymphocytes Severe combined immunodeficiency education.field_of_study business.industry T-cell receptor excision circles Immunity Immunologic Deficiency Syndromes Infant Newborn Infant History 19th Century History 20th Century medicine.disease Early Diagnosis 030104 developmental biology Next-generation sequencing Primary immunodeficiency Original Article KREC medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Clinical Immunology |
| ISSN: | 1573-2592 0271-9142 |
| DOI: | 10.1007/s10875-017-0455-x |
| Popis: | The primary objective of population-based newborn screening is the early identification of asymptomatic infants with a range of severe diseases, for which effective treatment is available and where early diagnosis and intervention prevent serious sequelae. Primary immunodeficiency diseases (PID) are a heterogeneous group of inborn errors of immunity. Severe combined immunodeficiency (SCID) is one form of PID which is uniformly fatal without early, definitive therapy, and outcomes are significantly improved if infants are diagnosed and treated within the first few months of life. Screening for SCID using T cell receptor excision circle (TREC) analysis has been introduced in many countries worldwide. The utility of additional screening with kappa recombining excision circles (KREC) has also been described, enabling identification of infants with severe forms of PID manifested by T and B cell lymphopenia. Here, we review the early origins of newborn screening and the evolution of screening methodologies. We discuss current strategies employed in newborn screening programs for PID, including TREC and TREC/KREC-based screening, and consider the potential future role of protein-based assays, targeted sequencing, and next generation sequencing (NGS) technologies, including whole genome sequencing (WGS). |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink