False Negative Next-Generation-Sequencing Analysis in a Lipopolysa ccharide-Responsive Beige-Like Anchor Defect.
| Autor: | Ünal, Tuğba, Esenboğa, Saliha, Halaçlı, Sevil Oskay, Tezcan, İlhan, Çağdaş, Deniz |
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| Předmět: |
HEMOLYTIC anemia diagnosis
ANTIBIOTICS STEROID drugs LIPOPOLYSACCHARIDES HEMOLYTIC anemia FLOW cytometry SEQUENCE analysis MEDIASTINUM diseases GENE expression INTRA-abdominal infections INTRAVENOUS immunoglobulins BRONCHIOLITIS obliterans BIOINFORMATICS GENOMES DIAGNOSTIC errors POLYMERASE chain reaction ARTHRITIS THROMBOCYTOPENIA COMPUTED tomography NEEDLE biopsy ALGORITHMS |
| Zdroj: | Turkish Archives of Pediatrics; Mar2024, Vol. 59 Issue 2, p221-223, 3p |
| Abstrakt: | This scientific letter explores the limitations of next-generation sequencing (NGS) techniques in diagnosing inborn errors of immunity (IEI). The authors present a case study of a patient with LRBA deficiency who could not be diagnosed using NGS panel and whole-exome sequencing. They emphasize the importance of clinical suspicion and the need for additional diagnostic techniques, such as Sanger sequencing. The authors also discuss a study that compares the levels of biological defects in patients with LRBA deficiency and CTLA-4 insufficiency, using whole-genome sequencing to analyze a cohort of individuals with primary immunodeficiency. The findings shed light on the genetic factors and mechanisms involved in these conditions. [Extracted from the article] |
| Databáze: | Complementary Index |
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