Progressive B Cell Loss in Revertant X-SCID.
Connie H Lin1, Hye Sun Kuehn2, Timothy J Thauland1
1Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, University of California Los Angeles, Los Angeles, CA, 90095, USA.
Journal of Clinical Immunology
|July 19, 2020
Summary
A rare X-linked severe combined immunodeficiency (X-SCID) case survived over 20 years due to somatic reversion mutation. This study highlights how T cell receptor repertoire size, not just T cell numbers, is crucial for immune function.
Area of Science:
- Immunology
- Genetics
- Human Pathology
Background:
- X-linked severe combined immunodeficiency (X-SCID) is a primary immunodeficiency disorder.
- Hematopoietic stem cell transplantation (HSCT) is the standard treatment for X-SCID.
- Somatic reversion mutations are a rare phenomenon that can lead to spontaneous recovery from genetic disorders.
