Article
A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency.
Iranian journal of allergy, asthma, and immunology - 1 Feb 2020
Talebi Taravat, Biglari Alireza, Shahroeei Mohammad, Changi-Ashtiani Majid, Dinmohammadi Hossein, Navabi Shadi Sadat, Parvaneh Nima, Bossuyt Xavier, Shahani Tina, Rokni-Zadeh Hassan
Abstract excerpt
Severe combined immunodeficiency (SCID) comprises a heterogeneous group of genetic disorders caused by early defects in the development and function of T cells. Other lymphocyte lineages (B and/or natural killer cells) are variably affected. With a worldwide frequency of approximately 1:50,000 live births, SCID may result from diverse mutations in over 16 genes. Whole-exome sequencing (WES) provides an...
Topics
- Adenosine Deaminase
- Agammaglobulinemia
- Female
- Humans
- Infant
- Iran
- Male
- Mutation
- Pedigree
- Severe Combined Immunodeficiency
- Exome Sequencing