Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:102 |
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| Enthalten in: |
Journal of genetics - 102(2023) vom: 10. |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Castano-Jaramillo, Lina M [VerfasserIn] |
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| Themen: |
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| Anmerkungen: |
Date Revised 11.12.2023 published: Print Citation Status In-Process |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM365639788 |
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| 245 | 1 | 0 | |a Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity |
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| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 700 | 1 | |a Larrauri, Francisco Rivas |e verfasserin |4 aut | |
| 700 | 1 | |a Scheffler-Mendoza, Selma C |e verfasserin |4 aut | |
| 700 | 1 | |a Gutierrez-Hernandez, Alonso |e verfasserin |4 aut | |
| 700 | 1 | |a Ogando, Juan Carlos Bustamante |e verfasserin |4 aut | |
| 700 | 1 | |a Colin, Paulina |e verfasserin |4 aut | |
| 700 | 1 | |a Cisneros, Margarita Ortega |e verfasserin |4 aut | |
| 700 | 1 | |a Rajme-López, Sandra |e verfasserin |4 aut | |
| 700 | 1 | |a Medina-Torres, Edgar Alejandro |e verfasserin |4 aut | |
| 700 | 1 | |a Ruiz, Laura Berron |e verfasserin |4 aut | |
| 700 | 1 | |a Rodriguez-Lozano, Ana Luisa |e verfasserin |4 aut | |
| 700 | 1 | |a Padilla, Sara Elva Espinosa |e verfasserin |4 aut | |
| 700 | 1 | |a Yamazaki-Nakashimada, Marco Antonio |e verfasserin |4 aut | |
| 700 | 1 | |a Reyes, Saul O Lugo |e verfasserin |4 aut | |
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