Article
Novel Compound Heterozygous Mutations in IL-7 Receptor α Gene in a 15-Month-Old Girl Presenting With Thrombocytopenia, Normal T Cell Count and Maternal Engraftment.
Frontiers in immunology - 1 Jan 2019
Zangari Paola, Cifaldi Cristina, Di Cesare Silvia, Di Matteo Gigliola, Chiriaco Maria, Amodio Donato, Cotugno Nicola, De Luca Maia, Surace Cecilia, Ladogana Saverio, Gardini Simone, Merli Pietro, Algeri Mattia, Rossi Paolo, Palma Paolo, Cancrini Caterina, Finocchi Andrea
Abstract excerpt
Patients with severe combined immunodeficiency (SCID) exhibit T lymphopenia and profound impairments in cellular and humoral immunity. IL-7 receptor α (IL-7Rα) deficiency is a rare form of SCID that usually presents in the first months of life with severe and opportunistic infections, failure to thrive and high risk of mortality unless treated. Here, we reported an atypical and delayed onset of IL7Rα-SCID in a...
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