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Newborn screening for primary immunodeficiencies: beyond SCID and XLA
Stephan Borte1, Ning Wang, Sólveig Oskarsdóttir
1Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.
Insights
Early diagnosis of primary immunodeficiencies (PID) is crucial. Neonatal screening for T and B cell absence aids in detecting severe combined immunodeficiencies (SCID) and X-linked agammaglobulinemia (XLA), but requires further tests for other PIDs.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Primary immunodeficiencies (PID) comprise over 250 distinct conditions.
- Early diagnosis and treatment of PID are vital to prevent severe infections and organ damage.
- Neonatal screening assays have emerged for detecting T and B lymphocyte deficiencies.
Purpose of the Study:
- To review the role of neonatal screening in identifying primary immunodeficiencies.
- To discuss the implications of reduced T and B cells in newborns beyond SCID and XLA.
- To highlight the need for advanced diagnostic platforms for PID classification.
Main Methods:
- Review of current literature on neonatal screening for PID.
- Analysis of diagnostic approaches for T and B cell deficiencies.
- Discussion of emerging technical platforms for PID identification.
Main Results:
- Neonatal screening effectively identifies severe combined immunodeficiencies (SCID) and X-linked agammaglobulinemia (XLA).
- Reduced T and B cell counts in newborns can indicate various other forms of PID.
- Supplemental investigations and new platforms are necessary to classify abnormal screening results.
Conclusions:
- Neonatal screening is a valuable tool for early PID detection.
- Abnormal screening results necessitate further comprehensive diagnostic workups.
- Advancements in technology are crucial for accurate PID classification and management.
Abstract:
Primary immunodeficiencies (PID) encompass more than 250 disease entities, including phagocytic disorders, complement deficiencies, T cell defects, and antibody deficiencies. While differing in clinical severity, early diagnosis and treatment is of considerable importance for all forms of PID to prevent organ damage and life-threatening infections. During the past few years, neonatal screening assays have been developed to detect diseases hallmarked by the absence of T or B lymphocytes, classically seen in severe combined immunodeficiencies (SCID) and X-linked agammaglobulinemia (XLA). As described in this review, a reduction or lack of T and B cells in newborns is also frequently found in several other forms of PID, requiring supplemental investigation and involving the development of additional technical platforms in order to help classify abnormal screening results.
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