Journal of Clinical Immunology

, Volume 33, Issue 8, pp 1276–1284

Clinical Manifestations of Disease in X-Linked Carriers of Chronic Granulomatous Disease

  • A. C. Battersby
  • C. M. Cale
  • D. Goldblatt
  • A. R. Gennery
Key Review Article

DOI: 10.1007/s10875-013-9939-5

Cite this article as:
Battersby, A.C., Cale, C.M., Goldblatt, D. et al. J Clin Immunol (2013) 33: 1276. doi:10.1007/s10875-013-9939-5

Abstract

Chronic Granulomatous Disease (CGD) is a rare primary immunodeficiency due to a defect in one of the NADPH oxidase complex subunits; 70 % of cases are X-linked, due to a CYBB mutation, resulting in defective production of gp91PHOX. Female carriers of X-linked CGD have previously been considered to be unaffected. It is increasingly recognized that they may suffer from similar problems to CGD patients. This review will examine the literature about clinical manifestations of disease in X-linked carriers of CGD.

Keywords

Chronic granulomatous disease X-linked carriers primary immunodeficiency 

Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • A. C. Battersby
    • 1
    • 4
  • C. M. Cale
    • 2
  • D. Goldblatt
    • 3
  • A. R. Gennery
    • 1
  1. 1.Institute of Cellular MedicineNewcastle UniversityLondonUK
  2. 2.Clinical ImmunologyGreat Ormond Street HospitalLondonUK
  3. 3.Institute of Child HealthUniversity College LondonLondonUK
  4. 4.Department Paediatric Immunology & Infectious Diseases, Old Children’s OutpatientsRoyal Victoria InfirmaryNewcastleUK