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Novel BTK Mutation in Patient with Late Diagnosis of X-Linked Agammaglobulinemia
X-linked agammaglobulinemia (XLA) is a genetic disorder with mutation in Bruton's tyrosine kinase (BTK). Defects in B cell development and immunoglobulin production lead to recurrent infections following loss of maternal IgG at 6 months of age. A 55-year-old male with a longstanding common vari...
Autores principales: | Kalkat, Amanpreet, Humpel, Olivia, Hostoffer, Robert |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10693464/ https://www.ncbi.nlm.nih.gov/pubmed/38046560 http://dx.doi.org/10.1155/2023/6698913 |
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