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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...

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Detalles Bibliográficos
Autores principales: Kalkat, Amanpreet, Humpel, Olivia, Hostoffer, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
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