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A novel PRKDC mutation caused B lymphocytes V(D)J rearrangement disorder in the SLE-DAH like symptoms patient
BACKGROUND: Analyzed the clinical features and treatment process of the patient suffering from immunodeficiency with systemic lupus erythematosus(SLE)-like syndrome in a novel mutation of PRKDC. CASE PRESENTATION: The patient had multiple positive auto-antibodies, chest CT and bronchoscopy showed Di...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10424403/ https://www.ncbi.nlm.nih.gov/pubmed/37580814 http://dx.doi.org/10.1186/s12969-023-00840-9 |