Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2020 Jul;37(4):742-744.
doi: 10.1111/pde.14146. Epub 2020 Mar 23.

Recurrent sterile abscesses in a case of X-linked neutropenia

Catherine M Biggs  1   2   3 , Bhavi Modi  2 , Michelle Steinraths  4 , Kate Del Bel  2 , Persia Pourshahnazari  1   3 , Cameron Griffiths  5 , David M Forrest  6 , Julie Prendiville  7 , Jan P Dutz  8 , Stuart E Turvey  1   2 , Scott B Cameron  1
Affiliations
Case Reports

Recurrent sterile abscesses in a case of X-linked neutropenia

Catherine M Biggs et al. Pediatr Dermatol. 2020 Jul.

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.

PubMed Disclaimer

References

REFERENCES

    1. Prendiville J, Thiessen P, Mallory SB. Neutrophilic dermatoses in two children with idiopathic neutropenia: association with granulocyte colony-stimulating factor (G-CSF) therapy. Pediatr Dermatol. 2001;18:417-421.
    1. Beel K, Cotter MM, Blatny J, et al. A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene. Br J Haematol. 2009;144:120-126.
    1. Devriendt K, Kim AS, Mathijs G, et al. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet. 2001;27:313-317.
    1. Moulding DA, Blundell MP, Spiller DG, et al. Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia. J Exp Med. 2007;204:2213-2224.
    1. Keszei M, Record J, Kritikou JS, et al. Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive. J Clin Invest. 2018;128:4115-4131.

Publication types

LinkOut - more resources