Article
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
Journal of clinical immunology - 1 Jul 2022
El Hawary Rabab E, Meshaal Safa S, Abd Elaziz Dalia S, Alkady Radwa, Lotfy Sohilla, Eldash Alia, Erfan Aya, Chohayeb Engy A, Saad Mai M, Darwish Rania K, Boutros Jeannette A, Galal Nermeen M, Elmarsafy Aisha M
Abstract excerpt
BACKGROUND: Inborn errors of immunity (IEI) are a group of heterogeneous disorders with geographic and ethnic diversities. Although IEI are common in Egypt, genetic diagnosis is limited due to financial restrictions. This study aims to characterize the genetic spectrum of IEI patients in Egypt and highlights the adaptation of the molecular diagnostic methods to a resource-limited setting. METHODS: Genetic...
Topics
- Adaptor Proteins, Signal Transducing
- Consanguinity
- Egypt
- Genetic Diseases, Inborn
- Genetic Testing
- Guanine Nucleotide Exchange Factors
- High-Throughput Nucleotide Sequencing
- Humans
- Immune System Diseases
- Phenotype