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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...

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Detalles Bibliográficos
Autores principales:	Li, Hongwei, Zhang, Yawen, Zhang, Biyun, Chen, Dehui
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Case Report
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

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