Chronic granulomatous disease: two decades of experience from a tertiary care centre in North West India

J Clin Immunol. 2014 Jan;34(1):58-67. doi: 10.1007/s10875-013-9963-5. Epub 2013 Nov 26.


Chronic granulomatous disease (CGD) results from an inherited defect in the phagocytic cells of the immune system. It is a genetically heterogenous disease caused by defects in one of the five major subunits of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. There is a paucity of data from India on CGD. We herein describe the clinical features in 17 children with CGD from a single tertiary referral center in India. A detailed analysis of the clinical features, laboratory investigations and outcome of 17 children 7 with X-linked (XL) and 10 with autosomal recessive (AR) form was performed. Diagnosis of CGD was based on an abnormal granulocyte oxidative burst evaluated by either Nitroblue Tetrazolium (NBT) test or flow cytometry based Dihyrorhodamine 123 assay or both. The molecular diagnosis was confirmed by genetic mutation analysis in 13 cases. The mean age at diagnosis and the age at onset of symptoms was significantly lower in children diagnosed with XL- CGD compared those with AR disease. Mutations were detected in CYBB gene in 6 patients with XL-CGD and NCF-1 gene mutations were observed in 7 cases of AR- CGD. The course and outcome of the disease was much worse in children diagnosed with X-linked form of disease compared to AR forms of the disease; 4/7 (57%) children with X-CGD were dead at the time of data analysis. This is one of the largest series on chronic granulomatous disease from any developing country.

MeSH terms

  • Age of Onset
  • Cause of Death
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Granulomatous Disease, Chronic / complications
  • Granulomatous Disease, Chronic / diagnosis
  • Granulomatous Disease, Chronic / epidemiology*
  • Granulomatous Disease, Chronic / genetics
  • Hospital Mortality
  • Humans
  • India
  • Infant
  • Infant, Newborn
  • Infections / etiology
  • Infections / microbiology
  • Male
  • Mutation
  • Prognosis
  • Tertiary Care Centers*