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...
Topics
- B-Lymphocytes
- Biomarkers
- Biopsy
- Child, Preschool
- Cytokines
- Disease Susceptibility
- Genetic Predisposition to Disease
- High-Throughput Nucleotide Sequencing
- Humans
- Immunophenotyping
- Infant
- Lymphocyte Count
- Male