Ecthyma gangrenosum due to Pseudomonas aeruginosa sepsis as initial manifestation of X-linked agammaglobulinemia: a case
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CASE REPORT
Open Access
Ecthyma gangrenosum due to Pseudomonas aeruginosa sepsis as initial manifestation of X-linked agammaglobulinemia: a case report Haixia Huang1, Ke Bai1, Yueqiang Fu1, Jin Yan2 and Jing Li1*
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. Keywords: Pseudomonas aeruginosa, Ecthyma gangrenosum, X-linked agammaglobulinemia, male infants
Background 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]. The mutations prevent precursor B cells in the bone marrow from forming mature, circulating B-lymphocytes, which results in clinically undetectable levels of all immunoglobulin isotypes. In human subjects with immunodeficiency, XLA has been associated with opportunistic infection by the gram-negative bacterium Pseudomonas aeruginosa [3]. * Correspondence: [email protected] 1 Intensive Care Unit, Key Medical Laboratory of Pediatrics, Key Laboratory of Child Development and Disorders, Chongqing Health Bureau, Ministry of Education, Children’s Hospital of Chongqing Medical University, 136#, Zhong Shan 2nd Rord, Yuzhong District, Chongqing, People’s Republic of China Full list of author information is available at the end of the article
Ecthyma gangrenosum is a cutaneous lesion caused by P. aeruginosa that requires prompt diagnosis and treatment [4]. Here, we report the case of a 20-month-old boy with XLA and ecthyma gangrenosum caused by P. aeruginosa as the initial presenting feature. Sanger sequencing revealed a new hemizygous variant of the Xlinked BTK gene (c.262G > T in exon 4).
Case presentation A 20-month-old boy presented to our institution on April 11, 2018 with a 4-day history of fever reaching 39.5oC, vomiting, and diarrhea. The parents noted asymmetrical skin lesions on the patient’s limbs one day prior to admission. He was previously healthy, and had no known history of drug allergies, recent travel, or family history of immunodeficiency. The patient had received
© The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 In
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