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Expanding the Clinical Phenotype of Chronic Granulomatous Disease: a Female Patient with a De Novo Mutation in CYBB

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Authors and Affiliations

  1. Department of Pediatrics, Division of Allergy, Immunology, Rheumatology, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA

    Eveline Y. Wu

  2. Department of Laboratory Medicine, Clinical Center, NIH, Bethesda, MD, USA

    Hye Sun Kuehn & Sergio D. Rosenzweig

  3. National Human Genome Research Institute, NIH, Bethesda, MD, USA

    Ivona Aksentijevich

  4. Department of Dermatology, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA

    Diana B. McShane

Authors
  1. Eveline Y. Wu
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  2. Hye Sun Kuehn
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  3. Sergio D. Rosenzweig
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  4. Ivona Aksentijevich
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  5. Diana B. McShane
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Correspondence to Eveline Y. Wu.

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Online Resource 1

Skin punch biopsy (hematoxylin and eosin stain). Neutrophils fill interstitial spaces and form confluent sheets characteristic of neutrophilic dermatosis. Arrows designate more concentrated areas of neutrophils and debris. (PDF 1964 kb)

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Wu, E.Y., Kuehn, H.S., Rosenzweig, S.D. et al. Expanding the Clinical Phenotype of Chronic Granulomatous Disease: a Female Patient with a De Novo Mutation in CYBB. J Clin Immunol 41, 224–226 (2021). https://doi.org/10.1007/s10875-020-00877-5

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  • DOI: https://doi.org/10.1007/s10875-020-00877-5

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