Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing.
Erica SanfordLauge FarnaesSerge BatalovMatthew BainbridgeSusan LaubachH Michael WorthenMari TokitaStephen F KingsmoreJohn BradleyPublished in: Cold Spring Harbor molecular case studies (2018)
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.
Keyphrases
- tyrosine kinase
- genome wide
- epidermal growth factor receptor
- pseudomonas aeruginosa
- case report
- intensive care unit
- acute kidney injury
- septic shock
- copy number
- endothelial cells
- single cell
- biofilm formation
- cystic fibrosis
- dna methylation
- genome wide identification
- induced pluripotent stem cells
- gene expression
- multidrug resistant
- staphylococcus aureus
- acinetobacter baumannii
- candida albicans
- sensitive detection