Recurrent bacterial skin infection as a diagnostic clue to Wiskott-Aldrich syndrome in a resource-limited setting: A case report
Year: 2026
Type: article
Study design: Case Report
Abstract: Wiskott-Aldrich syndrome (WAS) is a rare X-linked inborn error of immunity characterized by microthrombocytopenia, eczema, and immune dysfunction. In low- and middle-income settings, diagnosis and definitive treatment are often delayed owing to limited access to specialized immunologic assays, genetic testing, and hematopoietic stem cell transplantation. A 4-year-old boy from Ghana had generalized eczematous dermatitis from 4 months of age, with recurrent gum bleeding and intermittent hematochezia. He was admitted with a right upper arm abscess and severe pallor on examination. Testing revealed severe microthrombocytopenia with anemia, elevated IgE with low IgM levels, and T- and B-cell lymphopenia. Whole-genome sequencing identified a pathogenic hemizygous WAS variant (c.1001delG; p.Gly334Valfs*111), confirming classic WAS. He received surgical drainage, blood products, antibiotics, eczema-directed therapy, and secondary antimicrobial prophylaxis. Intravenous immunoglobulin and topical tacrolimus were not used due to cost. This case highlights that recurrent or unusually severe bacterial skin and soft-tissue infections in a boy with eczema, bleeding manifestations, and microthrombocytopenia should prompt consideration of an inborn error of immunity, including WAS. In resource-limited settings, recognizing this triad is critical for prompt microbiological evaluation, targeted antimicrobial therapy, and early initiation of infection-prevention strategies.
Source: IDCases
Institutions: Korle Bu Teaching Hospital, University of Ghana
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $1,370
OpenAlex ID: W7223299501