Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
Rabab E El HawarySafa S MeshaalDalia S Abd ElazizRadwa AlkadySohilla LotfyAlia EldashAya ErfanEngy A ChohayebMai M SaadRania K DarwishJeannette A BoutrosNermeen M GalalAisha M ElmarsafyPublished in: Journal of clinical immunology (2022)
The study showed that a combination of Sanger sequencing in selected patients associated with targeted NGS or WES in other patients is an effective diagnostic strategy for IEI diagnosis in countries with limited diagnostic resources. Molecular testing can be used to validate other nonexpensive laboratory techniques that help to reach definitive diagnosis and help in genetic counseling and taking proper therapeutic decisions including stem cell transplantation or gene therapy.
Keyphrases
- end stage renal disease
- stem cell transplantation
- ejection fraction
- newly diagnosed
- chronic kidney disease
- gene therapy
- peritoneal dialysis
- high dose
- prognostic factors
- gene expression
- emergency department
- low dose
- single cell
- patient reported outcomes
- dna methylation
- hiv infected
- drug delivery
- cancer therapy
- patient safety
- human immunodeficiency virus
- rectal cancer
- antiretroviral therapy