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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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| Izdano u: | OMICS |
|---|---|
| Glavni autori: | , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Mary Ann Liebert, Inc., publishers
2019
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6534087/ https://ncbi.nlm.nih.gov/pubmed/31100039 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/omi.2018.0196 |
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