Article
Partial T cell defects and expanded CD56bright NK cells in an SCID patient carrying hypomorphic mutation in the IL2RG gene.
Journal of leukocyte biology - 1 Aug 2020
Cifaldi Cristina, Cotugno Nicola, Di Cesare Silvia, Giliani Silvia, Di Matteo Gigliola, Amodio Donato, Piano Mortari Eva, Chiriaco Maria, Buonsenso Danilo, Zangari Paola, Pagliara Daria, Gaspari Stefania, Carsetti Rita, Palma Paolo, Finocchi Andrea, Locatelli Franco, Rossi Paolo, Doria Margherita, Cancrini Caterina
Abstract excerpt
X-linked severe combined immunodeficiency (X-SCID) caused by full mutation of the IL2RG gene leads to T- B+ NK- phenotype and is usually associated with severe opportunistic infections, diarrhea, and failure to thrive. When IL2RG hypomorphic mutation occurs, diagnosis could be delayed and challenging since only moderate reduction of T and NK cells may be present. Here, we explored phenotypic insights and the...
Topics
- B-Lymphocytes
- Biomarkers
- Disease Susceptibility
- High-Throughput Nucleotide Sequencing
- Humans
- Immunophenotyping
- Infant
- Interleukin Receptor Common gamma Subunit