Identification of a heterozygous pathogenic variant in IRAK4 in an adult patient with pneumococcal sepsis, monoclonal gammopathy of uncertain significance, and idiopathic systemic capillary leak syndrome

IRAK-4 haploinsufficiency can present with pneumococcal sepsis and poor pneumococcal vaccine response in adults. Further research can determine the significance of unrecognized pathogenic variants in IRAK4 in adults presenting with pneumococcal sepsis and the utility of immunoglobulin replacement in...

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Detalles Bibliográficos
Autores principales: Galant-Swafford, Jessica, Druey, Kirk M., Verma, Divya, Alam, Rafeul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10249487/
https://www.ncbi.nlm.nih.gov/pubmed/37304620
http://dx.doi.org/10.1016/j.jacig.2023.100116

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10249487/
https://www.ncbi.nlm.nih.gov/pubmed/37304620
http://dx.doi.org/10.1016/j.jacig.2023.100116

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