Family-Based Next-Generation Sequencing Study Identifies an IL2RG Variant in an Infant with Primary Immunodeficiency

Primary immunodeficiencies (PIDs) are a rare and heterogeneous group of inherited genetic disorders that are characterized by an absent or impaired immune system. In this report, we describe the use of next-generation sequencing to investigate a male infant with clinical and immunological manifestat...

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Detalles Bibliográficos
Autores principales: Bandari, Aravind K., Bhat, Sunil, Archana, MV, Yadavalli, Sunita, Patel, Krishna, Rajagopalan, Pavithra, Madugundu, Anil K., Madkaikar, Manisha, Reddy, Kavita, Muthusamy, Babylakshmi, Pandey, Akhilesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mary Ann Liebert, Inc., publishers 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6534087/
https://www.ncbi.nlm.nih.gov/pubmed/31100039
http://dx.doi.org/10.1089/omi.2018.0196

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