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Article

Progressive B Cell Loss in Revertant X-SCID.

Journal of clinical immunology - 1 Oct 2020

Lin Connie H, Kuehn Hye Sun, Thauland Timothy J, Lee Christine M, De Ravin Suk See, Malech Harry L, Keyes Timothy J, Jager Astraea, Davis Kara L, Garcia-Lloret Maria I, Rosenzweig Sergio D, Butte Manish J

Abstract excerpt

We report the case of a patient with X-linked severe combined immunodeficiency (X-SCID) who survived for over 20 years without hematopoietic stem cell transplantation (HSCT) because of a somatic reversion mutation. An important feature of this rare case included the strategy to validate the pathogenicity of a variant of the IL2RG gene when the T and B cell lineages comprised only revertant cells. We studied the...

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Identifiers

PMID: 32681206
DOI: 10.1007/s10875-020-00825-3
PMCID: PMC7508923

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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