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MHC II deficient infant identified by newborn screening program for SCID
Nufar Marcus1,2, Tali Stauber3,4, Atar Lev3,4
1Allergy and Immunology Unit, Felsenstein Medical Research Center, Kipper Institute of Immunology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
Immunologic Research
|August 8, 2018
Summary
Newborn screening for SCID can identify infants with MHC II deficiency. Adding HLA-DR testing to immune workups improves diagnosis for these infants, enabling timely treatment.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Newborn screening (NBS) for severe combined immunodeficiency (SCID) using TREC assays has improved infant outcomes.
- However, infants with certain conditions like MHC II deficiency may be missed by TREC-based assays due to residual T cells.
Observation:
- A patient identified by Israel's SCID NBS program presented with severe CD4 lymphopenia, low TREC levels, and undetectable HLA-DR expression.
- Genetic analysis revealed a pathogenic mutation (p. R239X) in the RFX5 gene, confirming MHC II deficiency.
Findings:
- The TREC-based SCID NBS assay can potentially identify infants with MHC class II deficiency.
- The patient's immune phenotype was consistent with MHC II deficiency caused by the identified RFX5 mutation.
Implications:
- Measuring MHC II molecules (e.g., HLA-DR) should be integrated into confirmatory immune-phenotyping for positive NBS results.
- This inclusion can streamline the diagnosis of MHC II deficiency in newborns, facilitating prompt treatment and improving prognosis.
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