| Autor: |
Castano-Jaramillo LM; Clinical Immunology Department, Instituto Nacional de Pediatria, Mexico City, Mexico.dr.lugo.reyes@gmail.com., Larrauri FR, Scheffler-Mendoza SC, Gutierrez-Hernandez A, Ogando JCB, Colin P, Cisneros MO, Rajme-López S, Medina-Torres EA, Ruiz LB, Rodriguez-Lozano AL, Padilla SEE, Yamazaki-Nakashimada MA, Reyes SOL |
| Jazyk: |
angličtina |
| Zdroj: |
Journal of genetics [J Genet] 2023; Vol. 102. |
| Abstrakt: |
Inborn errors of immunity may present with autoimmunity and autoinflammation as hallmark clinical manifestations. We aimed to identify the potential monogenic causes of autoimmune disorders in 26 patients from a pediatric reference hospital in Mexico through whole-exome sequencing. We specifically selected patients with a family history of autoimmune diseases, early-onset symptoms, and difficult-to-control autoimmune disorders or autoimmunity associated with infection predisposition. We identified the genetic variants that were compatible with the patients' phenotype in 54% of the patients. Autoimmune diseases are often caused by a combination of genetic factors, but cases that appear at a young age are resistant to treatment or occur in clusters, as well as the presence of autoimmune symptoms alongside infectious diseases should raise suspicion for an underlying inborn error of immunity. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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Full text from SpringerLink