Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing

X-linked agammaglobulinemia (XLA, OMIM#300300) is a rare monogenic primary immunodeficiency caused by mutations in the Bruton tyrosine kinase (BTK) gene. XLA is characterized by insufficient immunoglobulin levels and susceptibility to life-threatening bacterial infections. We report on a patient tha...

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Autores principales: Sanford, Erica, Farnaes, Lauge, Batalov, Serge, Bainbridge, Matthew, Laubach, Susan, Worthen, H. Michael, Tokita, Mari, Kingsmore, Stephen F., Bradley, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2018
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318772/
https://www.ncbi.nlm.nih.gov/pubmed/30559311
http://dx.doi.org/10.1101/mcs.a003244
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author Sanford, Erica
Farnaes, Lauge
Batalov, Serge
Bainbridge, Matthew
Laubach, Susan
Worthen, H. Michael
Tokita, Mari
Kingsmore, Stephen F.
Bradley, John
author_facet Sanford, Erica
Farnaes, Lauge
Batalov, Serge
Bainbridge, Matthew
Laubach, Susan
Worthen, H. Michael
Tokita, Mari
Kingsmore, Stephen F.
Bradley, John
author_sort Sanford, Erica
collection PubMed
description X-linked agammaglobulinemia (XLA, OMIM#300300) is a rare monogenic primary immunodeficiency caused by mutations in the Bruton tyrosine kinase (BTK) gene. XLA is characterized by insufficient immunoglobulin levels and susceptibility to life-threatening bacterial infections. We report on a patient that presented with ecthyma gangrenosum and septicemia. Rapid trio whole-genome sequencing (rWGS) revealed an apparently de novo hemizygous pathogenic variant (c.726dupT; p.Ile243TyrfsTer15) in the BTK gene. Metagenomic analysis of rWGS sequences that did not align to the human genome revealed 770 aligned to the Pseudomonas aeruginosa PAO1 genome. The patient was diagnosed with XLA and pseudomonal sepsis.
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spelling pubmed-63187722019-01-13 Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing Sanford, Erica Farnaes, Lauge Batalov, Serge Bainbridge, Matthew Laubach, Susan Worthen, H. Michael Tokita, Mari Kingsmore, Stephen F. Bradley, John Cold Spring Harb Mol Case Stud Rapid Communication X-linked agammaglobulinemia (XLA, OMIM#300300) is a rare monogenic primary immunodeficiency caused by mutations in the Bruton tyrosine kinase (BTK) gene. XLA is characterized by insufficient immunoglobulin levels and susceptibility to life-threatening bacterial infections. We report on a patient that presented with ecthyma gangrenosum and septicemia. Rapid trio whole-genome sequencing (rWGS) revealed an apparently de novo hemizygous pathogenic variant (c.726dupT; p.Ile243TyrfsTer15) in the BTK gene. Metagenomic analysis of rWGS sequences that did not align to the human genome revealed 770 aligned to the Pseudomonas aeruginosa PAO1 genome. The patient was diagnosed with XLA and pseudomonal sepsis. Cold Spring Harbor Laboratory Press 2018-12 /pmc/articles/PMC6318772/ /pubmed/30559311 http://dx.doi.org/10.1101/mcs.a003244 Text en © 2018 Sanford et al.; Published by Cold Spring Harbor Laboratory Press http://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/) , which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.
spellingShingle Rapid Communication
Sanford, Erica
Farnaes, Lauge
Batalov, Serge
Bainbridge, Matthew
Laubach, Susan
Worthen, H. Michael
Tokita, Mari
Kingsmore, Stephen F.
Bradley, John
Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing
title Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing
title_full Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing
title_fullStr Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing
title_full_unstemmed Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing
title_short Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing
title_sort concomitant diagnosis of immune deficiency and pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing
topic Rapid Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318772/
https://www.ncbi.nlm.nih.gov/pubmed/30559311
http://dx.doi.org/10.1101/mcs.a003244
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