Unknown

Dataset Information

0

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

ABSTRACT: 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.

SUBMITTER: Sanford E 

PROVIDER: S-EPMC6318772 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

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

Sanford Erica E   Farnaes Lauge L   Batalov Serge S   Batalov Serge S   Bainbridge Matthew M   Laubach Susan S   Worthen H Michael HM   Tokita Mari M   Kingsmore Stephen F SF   Kingsmore Stephen F SF   Bradley John J  

Cold Spring Harbor molecular case studies 20181217 6

X-linked agammaglobulinemia (XLA, OMIM#300300) is a rare monogenic primary immunodeficiency caused by mutations in the Bruton tyrosine kinase (<i>BTK</i>) 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 th  ...[more]

Similar Datasets

Unknown Diagnosis and management of ecthyma gangrenosum in chronic renal failure patient.
| S-EPMC4037781 | biostudies-literature
Unknown Disseminated fusariosis with ecthyma gangrenosum-like lesions in a refractory acute myeloid leukemia patient.
| S-EPMC6488287 | biostudies-literature
Unknown The Concept of Ecthyma Gangrenosum Illustrated by a Fusarium oxysporum Infection in an Immunocompetent Individual.
| S-EPMC5014892 | biostudies-literature
Unknown Concomitant use of VAQTA with PedvaxHIB and Infanrix in 12 to 17 month old children.
| S-EPMC5049725 | biostudies-literature
Unknown Citrin deficiency presenting as acute liver failure in an eight-month-old infant.
| S-EPMC4476898 | biostudies-literature
Unknown Atg7 Deficiency Intensifies Inflammasome Activation and Pyroptosis in <i>Pseudomonas</i> Sepsis.
| S-EPMC5382979 | biostudies-literature
Unknown Atypical presentation of IL-12 receptor beta1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl born to nonconsanguineous US residents.
| S-EPMC3679551 | biostudies-literature
Methylation profiling Whole Genome Bisulfite Sequencing Facilitates Quantitative Analysis of DNA Methylation status in sperm from 2 month old and 18 month old mice
2022-11-28 | GSE141249 | GEO
Proteomics Skeletal muscle from male C57BL/6J mice at 3-month-old or 24-month-old
2025-07-26 | PXD066632 |
Unknown Pseudomonas oryzihabitans sepsis in a 1-year-old child with multiple skin rashes: a case report.
| S-EPMC5362990 | biostudies-literature