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Chronic Granulomatous Disease: an Updated Experience, with Emphasis on Newly Recognized Features

Zacharoula Oikonomopoulou1, Stanford Shulman1,2, Marilyn Mets1,3

  • 1Division of Infectious Diseases, Ann & Robert H Lurie Children's Hospital of Chicago, 225 E Chicago Ave., Box 20, Chicago, IL, 60611, USA.

Journal of Clinical Immunology
|June 13, 2022
PubMed

Insights

Chronic granulomatous disease (CGD) is a rare immune disorder. This study updates US experience with CGD, noting a reduced infection rate and newly recognized features like unusual infections and autoimmune issues.

Area of Science:

  • Immunology
  • Genetics
  • Infectious Diseases

Background:

  • Chronic granulomatous disease (CGD) is an uncommon, inherited immune deficiency.
  • Understanding its clinical spectrum and management is crucial for patient outcomes.

Purpose of the Study:

  • To update a large, single-center US experience with CGD.
  • To identify and describe newly recognized features of the disease.

Main Methods:

  • Retrospective review of 26 CGD patients from November 2013 to December 2019.
  • Analysis of infectious agents, serious infection rates, and clinical manifestations.

Main Results:

  • Reduced serious infection rate (0.2/patient-year) compared to previous periods.
  • Identified unusual infections (e.g., Pneumocystis pneumonia, basidiomycete pneumonia) and autoimmune manifestations (e.g., retinitis pigmentosa).
  • Two of four evaluated patients successfully underwent stem cell transplantation with no deaths.

Conclusions:

  • This update highlights a decreased infection burden in CGD patients.
  • Newly recognized features expand the understanding of CGD's diverse clinical presentation.
Abstract

Keywords:
Chronic granulomatous diseaseUnfavorable Lyonizationbasidiomycete pneumoniacontiguous gene deletion syndromeretinitis pigmentosa

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