Progressive B Cell Loss in Revertant X-SCID.
作者： Connie H. Lin , Hye Sun Kuehn , Timothy J. Thauland , Christine M. Lee , Suk See De Ravin
DOI: 10.1007/S10875-020-00825-3
关键词:
摘要: 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 somatic reversion mutation. An important feature this rare included strategy to validate pathogenicity variant IL2RG gene when T and B lineages comprised only revertant cells. studied X-inactivation sorted cells from mother show that pathogenic was indeed cause his SCID. One interesting progressive loss 20 years. CyTOF (cytometry time flight) analysis bone marrow offered potential explanation failure, expansions progenitor populations suggest developmental block. Another bore extensive granulomatous disease skin cancers contained cells, despite lymphopenia in blood. Finally, had few hundred on presentation but TCRs very limited repertoire, supporting conclusion repertoire size trumps numbers
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