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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Veröffentlicht in:	Omics (Larchmont, N.Y.) N.Y.), 2019-05, Vol.23 (5), p.285-290
Hauptverfasser:	Bandari, Aravind K, Bhat, Sunil, Archana, M V, Yadavalli, Sunita, Patel, Krishna, Rajagopalan, Pavithra, Madugundu, Anil K, Madkaikar, Manisha, Reddy, Kavita, Muthusamy, Babylakshmi, Pandey, Akhilesh
Format:	Artikel
Sprache:	eng
Schlagworte:	Exome - genetics Female Genetic Predisposition to Disease - genetics High-Throughput Nucleotide Sequencing - methods Humans Interleukin Receptor Common gamma Subunit - genetics Male Mutation - genetics Primary Immunodeficiency Diseases - genetics
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