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Recurrent sterile abscesses in a case of X-linked neutropenia |
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| Authors: | Catherine M. Biggs MD MSc Bhavi Modi PhD Michelle Steinraths MD Kate Del Bel MSc Persia Pourshahnazari MD Cameron Griffiths MD David M. Forrest MD MHSc Julie Prendiville MD Jan P. Dutz MD Stuart E. Turvey MBBS DPhil Scott B. Cameron MD PhD |
| Affiliation: | 1. Division of Allergy & Immunology, University of British Columbia, Vancouver, BC, Canada;2. BC Children’s Hospital Research Institute, Vancouver, BC, Canada;3. Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada;4. Division of Allergy & Immunology, University of British Columbia, Vancouver, BC, Canada St. Paul's Hospital, Vancouver, BC, Canada;5. Division of Hematology, University of British Columbia, Vancouver, BC, Canada;6. Infectious Diseases, Nanaimo Regional General Hospital, Nanaimo, BC, Canada;7. Department of Dermatology, Sidra Medicine, Weill Cornell Medicine, Doha, Qatar;8. Department of Dermatology and Skin Science, University of British Columbia, Vancouver, BC, Canada;9. Division of Allergy & Immunology, University of British Columbia, Vancouver, BC, Canada BC Children’s Hospital Research Institute, Vancouver, BC, Canada |
| Abstract: | Cutaneous manifestations are common in monogenic immune disorders, including both infectious and non-infectious etiologies. We report follow-up of a case initially published in Pediatric Dermatology in 2001 of a 13-year-old boy with a history of inflammatory skin lesions and neutropenia who developed neutrophilic dermatoses precipitated by G-CSF. Whole exome sequencing performed at 36 years of age revealed a gain-of-function mutation in the WAS gene, leading to a diagnosis of X-linked neutropenia. This case report provides closure on a decades-long diagnostic odyssey and underscores the importance of genetic sequencing in patients who present with unusual dermatologic findings. |
| Keywords: | dermatopathology immunodeficiency inflammatory disorders skin signs of systemic disease |