PropertyValue
?:abstract
  • BACKGROUND: X-linked agammaglobulinemia (XLA, OMIM#300,300), caused by mutations in the Bruton tyrosine kinase (BTK) gene, is a rare monogenic inheritable immunodeficiency disorder. Ecthyma gangrenosum is a cutaneous lesion caused by Pseudomonas aeruginosa that typically occurs in patients with XLA and other immunodeficiencies. CASE PRESENTATION: We report the case of a 20-month-old boy who presented with fever, vomiting, diarrhea, and ecthyma gangrenosum. Blood, stool, and skin lesion culture samples were positive for P. aeruginosa. A diagnosis of XLA was established, and the c.262G > T mutation in exon 4 of BTK was identified with Sanger sequencing. Symptoms improved following treatment with antibiotics and immunoglobulin infusion. CONCLUSIONS: Primary immunodeficiency (i.e., XLA) should be suspected in male infants with P. aeruginosa sepsis, highlighting the importance of genetic and immune testing in these patients.
is ?:annotates of
?:creator
?:doi
?:doi
  • 10.1186/s12887-020-02436-8
?:journal
  • BMC_Pediatr
?:license
  • cc-by
?:pdf_json_files
  • document_parses/pdf_json/432ab071f0f883b221f304fbcac4658be85677a4.json
?:pmc_json_files
  • document_parses/pmc_json/PMC7704585.xml.json
?:pmcid
?:pmid
?:pmid
  • 33261572.0
?:publication_isRelatedTo_Disease
is ?:relation_isRelatedTo_publication of
?:sha_id
?:source
  • Medline; PMC
?:title
  • Ecthyma gangrenosum due to Pseudomonas aeruginosa sepsis as initial manifestation of X-linked agammaglobulinemia: a case report
?:type
?:year
  • 2020-12-01

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