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

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 thr...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831519/
https://www.ncbi.nlm.nih.gov/pubmed/31736942
http://dx.doi.org/10.3389/fimmu.2019.02471

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