{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T06:10:08Z","timestamp":1770963008282,"version":"3.50.1"},"reference-count":17,"publisher":"Cold Spring Harbor Laboratory","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:p>X-linked agammaglobulinemia (XLA, OMIM#300300) is a rare monogenic primary immunodeficiency caused by mutations in the Bruton tyrosine kinase (<jats:italic>BTK<\/jats:italic>) 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 <jats:italic>BTK<\/jats:italic> gene. Metagenomic analysis of rWGS sequences that did not align to the human genome revealed 770 aligned to the <jats:italic>Pseudomonas aeruginosa<\/jats:italic> PAO1 genome. The patient was diagnosed with XLA and pseudomonal sepsis.<\/jats:p>","DOI":"10.1101\/mcs.a003244","type":"journal-article","created":{"date-parts":[[2018,12,17]],"date-time":"2018-12-17T19:49:20Z","timestamp":1545076160000},"page":"a003244","source":"Crossref","is-referenced-by-count":18,"title":["Concomitant diagnosis of immune deficiency and <i>Pseudomonas<\/i> sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing"],"prefix":"10.1101","volume":"4","author":[{"given":"Erica","family":"Sanford","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8569-4771","authenticated-orcid":false,"given":"Lauge","family":"Farnaes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2036-2888","authenticated-orcid":false,"given":"Serge","family":"Batalov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3193-3471","authenticated-orcid":false,"given":"Matthew","family":"Bainbridge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7470-9616","authenticated-orcid":false,"given":"Susan","family":"Laubach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. 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