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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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
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author Galant-Swafford, Jessica
Druey, Kirk M.
Verma, Divya
Alam, Rafeul
author_facet Galant-Swafford, Jessica
Druey, Kirk M.
Verma, Divya
Alam, Rafeul
author_sort Galant-Swafford, Jessica
collection PubMed
description 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 these patients.
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spelling pubmed-102494872023-09-29 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 Galant-Swafford, Jessica Druey, Kirk M. Verma, Divya Alam, Rafeul J Allergy Clin Immunol Glob Case Report 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 these patients. Elsevier 2023-05-18 /pmc/articles/PMC10249487/ /pubmed/37304620 http://dx.doi.org/10.1016/j.jacig.2023.100116 Text en © 2023 The Author(s) https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Galant-Swafford, Jessica
Druey, Kirk M.
Verma, Divya
Alam, Rafeul
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
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
topic Case Report
url 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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