| Autor: |
Silvia Ricci, Lorenzo Lodi, Daniele Serranti, Marco Moroni, Gilda Belli, Giorgia Mancano, Andrea La Barbera, Giulia Forzano, Giusi Mangone, Giuseppe Indolfi, Chiara Azzari |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
|
| Zdroj: |
Frontiers in Immunology, Vol 10 (2019) |
| Druh dokumentu: |
article |
| ISSN: |
1664-3224 |
| DOI: |
10.3389/fimmu.2019.01955 |
| Popis: |
This is the first case of NBAS disease detected by NBS for primary immunodeficiency. NBS with KRECs is revealing unknown potentialities detecting conditions that benefit from early recognition like NBAS deficiency. Immune phenotyping should be mandatory in patients with NBAS deficiency since they can exhibit severe immunodeficiency with hypogammaglobulinemia as the most frequent finding. Fever during infections is a known trigger of acute liver failure in this syndrome, so immune dysfunction, should never go unnoticed in NBAS deficiency in order to start adequate therapy and prophylaxis. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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