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Peer-reviewedCC BY-NCIDCases

Recurrent bacterial skin infection as a diagnostic clue to Wiskott-Aldrich syndrome in a resource-limited setting: A case report.

  • Gabrielle Obeng-Koranteng1
  • Joycelyn Assimeng Dame1,2
  • Taiba Jibril Afaa1,2
  • Richard Bright Danyoh1
  • Ebenezer Badoe1,2
  1. 1Department of Child Health, Korle Bu Teaching Hospital, Accra, Ghana.
  2. 2Department of Child Health, University of Ghana Medical School, College of Health Sciences, Accra, Ghana.
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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.

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Cite

BibTeXRIS
BibTeX
@article{obengkoranteng2026recurrent,
  title = {{Recurrent bacterial skin infection as a diagnostic clue to Wiskott-Aldrich syndrome in a resource-limited setting: A case report.}},
  author = {Gabrielle Obeng-Koranteng and Joycelyn Assimeng Dame and Taiba Jibril Afaa and Richard Bright Danyoh and Ebenezer Badoe},
  journal = {IDCases},
  year = {2026},
  month = oct,
  doi = {10.1016/j.idcr.2026.e02813},
  url = {https://europepmc.org/article/MED/42999703},
  note = {CC BY-NC},
}
RIS
TY  - JOUR
TI  - Recurrent bacterial skin infection as a diagnostic clue to Wiskott-Aldrich syndrome in a resource-limited setting: A case report.
AU  - Gabrielle Obeng-Koranteng
AU  - Joycelyn Assimeng Dame
AU  - Taiba Jibril Afaa
AU  - Richard Bright Danyoh
AU  - Ebenezer Badoe
PY  - 2026
DA  - 2026/10/23
JO  - IDCases
DO  - 10.1016/j.idcr.2026.e02813
UR  - https://europepmc.org/article/MED/42999703
AB  - 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.
SN  - 2214-2509
ER  -