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Key Features

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  • Recurrent serious infections

  • "Cold" abscesses without pus formation

  • Poor wound healing

  • Gingival or periodontal disease (or both)

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Clinical Findings

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  • Patients present with variably severe phenotypes, including

    • Recurrent serious infections

    • Lack of pus formation

    • Poor wound healing

    • Gingival and periodontal disease

  • The hallmark is little inflammation and absent neutrophils on histopathologic evaluation of infected sites (ie, "cold" abscesses), especially when concurrent with neutrophilia, and expression of poor adherence to vessel walls

  • The most severe phenotype manifests with infections in the neonatal period, including delayed separation of the umbilical cord with associated omphalitis

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Diagnosis

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  • Striking neutrophilia demonstrated on laboratory evaluation

  • Diagnosis is confirmed by flow cytometry analysis for CD18 (type I) or CD15s (type II)

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Treatment

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  • Aggressive antibiotic therapy

  • Fucose supplementation in type II has been reported with some success

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