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• W2914095145 abstract "In the era of newborn screening (NBS) for severe combined immunodeficiency (SCID) and the possibility of gene therapy, it is important to link SCID phenotype to the underlying genetic disease. In western countries, X-linked IL-2 receptor gamma chain (IL2RG) and adenosine deaminase (ADA) deficient SCID are the most common types and can be treated by gene therapy. As a challenge, both IL2RG and ADA genes are highly polymorphic and a gene–based diagnosis may be difficult if the variant is of unknown significance or if it is located in non-coding areas of the genes that are not routinely evaluated with exon-based genetic testing (e.g., introns, promoters and the 5’and 3’ untranslated regions). Therefore, it is important to extend evaluation to non-coding areas of a gene if the exon-based sequencing is inconclusive and there is strong suspicion that variant in that gene is the cause for disease. Functional studies are often required in these cases to confirm a pathogenic variant. We present here two unique examples of leaky X-linked SCID with variable immune phenotypes, where IL2R gamma chain expression was detected and no pathogenic variant identified on initial genetic testing. Pathogenic IL2RG variants were subsequently confirmed by functional assay of gamma chain signaling and maternal X-inactivation studies. We propose that such tests can facilitate confirmation of suspected cases of X-linked SCID in newborns when initial genetic testing is inconclusive. Early identification of pathogenic IL2RG variants is especially important to ensure eligibility for gene therapy." @default.
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• W2914095145 date "2019-04-05" @default.
• W2914095145 modified "2023-10-18" @default.
• W2914095145 title "Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening" @default.
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• W2914095145 doi "https://doi.org/10.3389/fped.2019.00055" @default.
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