Chronic Granulomatous Disease

OVERVIEW

Chronic granulomatous disease (CGD) is a genetic immunodeficiency characterized by dysfunctional phagocytes.

WHAT CASUES IT?

CGD is most often cause by a gene defect in the NADPH oxidase enzyme complex. This leads to the inability to form hydrogen peroxide, and caused impaired intracellular killing by phagocytes.

WHAT MAKES US SUSPECT IT?

Risk factors:

Family history (most cases X-linked recessive)

Initial Presentation

  • Recurrent pulmonary/cutaneous infections
CLINICAL WORKUP

Leukocyte, platelet, B cell, and T cell concentrations are all NORMAL in patines with GCD. 

Neutrophil function testing: 

  • Dihydrorhodamine 123 test
  • Nitroblue tetrazolium test
ARCHIVE OF STANDARDIZED EXAM QUESTIONS 

This archive compiles standardized exam questions that relate to this topic.

OTHER INFO

Catalyze positive organisms often will infect patients with this disease: Staphylococcus aureus, Serrate, Burkholderia, Aspergillus

 

 

Page Updated: 11.21.2016