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Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism.
- Source :
- Journal of Clinical Immunology; Oct2015, Vol. 35 Issue 7, p610-614, 5p
- Publication Year :
- 2015
-
Abstract
- Primary immunodeficiency disease (PID) is caused by mutations of more than two hundred immunity-related genes. In addition to the heterogeneity of the diseases, the atypical presentation of each disease caused by hypomorphic mutations or somatic mosaicism makes genetic diagnosis challenging. Next-generation sequencing tests all genes simultaneously and has proven its innovative efficacy in genomics. We describe a male PID patient without any family history of immunodeficiency. This patient suffered from recurrent infections from 1 year of age. Laboratory analysis showed hypogammaglobulinemia. T, B, and NK cells were present, but the T cell proliferative response decreased. Whole-exome sequencing analysis identified an IL2RG p.P58T missense mutation. CD8 and CD56 cells showed revertant somatic mosaicism to the wild-type allele. A late-onset and atypical presentation of the X-linked severe combined immunodeficiency (X-SCID) phenotype might be associated with revertant somatic mosaicism in T and NK cells. This patient is the seventh reported case of X-SCID with revertant somatic mosaicism. His classical clinical management did not result in a molecular diagnosis because of the atypical presentation. The coverage that is provided by whole-exome sequencing of most PID genes effectively excluded differential diagnoses other than X-SCID. As next-generation sequencing becomes available in clinical practice, it will enhance our knowledge of PID and rescue currently undiagnosed patients. [ABSTRACT FROM AUTHOR]
- Subjects :
- IMMUNODEFICIENCY
GENETIC mutation
INTERLEUKIN-2
MOSAICISM
MEDICAL research
Subjects
Details
- Language :
- English
- ISSN :
- 02719142
- Volume :
- 35
- Issue :
- 7
- Database :
- Complementary Index
- Journal :
- Journal of Clinical Immunology
- Publication Type :
- Academic Journal
- Accession number :
- 110652623
- Full Text :
- https://doi.org/10.1007/s10875-015-0202-0