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

Zacharoula Oikonomopoulou, Stanford Shulman, Marilyn Mets, Ben Katz*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Purpose: Chronic granulomatous disease (CGD) is an uncommon, inborn error of immunity. We updated our large, single-center US experience with CGD and describe some newly recognized features. Methods: We retrospectively reviewed 26 patients seen from November 2013 to December 2019. Serious infections required intravenous antibiotics or hospitalization. Results: There were 21 males and 5 females. The most frequent infectious agents at presentation were aspergillus (4), serratia (4), burkholderia (2), Staphylococcus aureus (2), and klebsiella (2). The most common serious infections at presentation were pneumonia (6), lymphadenitis (6), and skin abscess (3). Our serious infection rate was 0.2 per patient-year from December 2013 through November 2019, down from 0.62 per patient-year from the previous study period (March 1985–November 2013). In the last 6 years, four patients were evaluated for human stem cell transplantation, two were successfully transplanted, and we had no deaths. Several patients had unusual infections or autoimmune manifestations of disease, such as pneumocystis pneumonia, basidiomycete/phellinus fungal pneumonia, and retinitis pigmentosa. We included one carrier female with unfavorable Lyonization in our cohort. Conclusion: We update of a large US single-center experience with CGD and describe some recently identified features of the illness.

Original languageEnglish (US)
Pages (from-to)1411-1419
Number of pages9
JournalJournal of Clinical Immunology
Issue number7
StatePublished - Oct 2022


  • Chronic granulomatous disease
  • Unfavorable Lyonization
  • basidiomycete pneumonia
  • contiguous gene deletion syndrome
  • retinitis pigmentosa

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology


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