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

• DOI: 10.1101/mcs.a003244
• Publication Date: 2018-12-17T19:49:20Z
• Authors: Erica Sanford; Lauge Farnaes; Serge Batalov; Matthew Bainbridge; Susan Laubach; H. Michael Worthen; Mari Tokita; Stephen F. Kingsmore; John Bradley
• Keywords: Primary Immunodeficiency; X-linked agammaglobulinemia

X-linked agammaglobulinemia (XLA, OMIM#300300) is a rare monogenic primary immunodeficiency caused by mutations in the Bruton tyrosine kinase (BTK) gene. XLA characterized insufficient immunoglobulin levels and susceptibility to life-threatening bacterial infections. We report on patient that presented with ecthyma gangrenosum septicemia. Rapid trio whole-genome sequencing (rWGS) revealed an apparently de novo hemizygous pathogenic variant (c.726dupT; p.Ile243TyrfsTer15) BTK Metagenomic analysis of rWGS sequences did not align human genome 770 aligned Pseudomonas aeruginosa PAO1 genome. The was diagnosed pseudomonal sepsis.