Abstract
BackgroundX-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 presentationWe 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.ConclusionsPrimary 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.
Highlights
ConclusionsPrimary immunodeficiency (i.e., X-linked agammaglobulinemia (XLA)) should be suspected in male infants with P. aeruginosa sepsis, highlighting the importance of genetic and immune testing in these patients
X-linked agammaglobulinemia (XLA, OMIM#300,300), caused by mutations in the Bruton tyrosine kinase (BTK) gene, is a rare monogenic inheritable immunodeficiency disorder
X-linked agammaglobulinemia (XLA) is a rare inheritable disease characterized by primary immunodeficiency and caused by monogenic mutations in the Bruton tyrosine kinase (BTK) gene [1, 2]
Summary
XLA should be considered in previously healthy patients with P. aeruginosa sepsis and ecthyma gangrenosum, especially in male infants.
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