Journal of Clinical Immunology

, Volume 37, Issue 2, pp 109–112 | Cite as

Chronic Granulomatous Disease Due to Neutrophil Cytosolic Factor (NCF2) Gene Mutations in Three Unrelated Families

  • Pandiarajan Vignesh
  • Amit Rawat
  • Ankur Kumar
  • Deepti Suri
  • Anju Gupta
  • Yu L Lau
  • Koon W Chan
  • Surjit Singh
Letter to Editor


Chronic granulomatous disease (CGD) is an inheritable and genetically heterogeneous disease resulting from mutations in different subcomponents of the NADPH oxidase system. Mutations in the NCF2 gene account for <5% of all cases of CGD. We analyzed the clinical and laboratory findings of CGD with mutations in the NCF2 gene from amongst our cohort of CGD patients. A homozygous mutation (c.835_836delAC, p.T279fsX294), a deletion in NCF2 gene was found in two cases. In the third case, two heterozygous mutations were detected, IVS13-2A>T on one allele and c.1099C>T (p.) on the other allele. The mother of this child was a carrier for the IVS13-2A>T mutation. All three cases had colitis, and it was the initial symptom in two patients. One of the patients also developed a lung abscess due to Nocardia cyriacigeorgica.


Chronic granulomatous disease neutrophil cytosolic fraction 2 gene mutation autosomal recessive dihydrorhodamine 123 assay p67phox protein colitis 




Compliance with Ethical Standards


No funding sources for this manuscript.

Conflict of Interest

The authors declare that they have no conflict of interest.

Ethical Approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed Consent

Informed consent was obtained from all individual participants included in the study.

Supplementary material

10875_2016_366_Fig2_ESM.gif (1 kb)
Figure S1

Pedigree of the all three families with A67° CGD- A. The affected child (shown by the arrow) born of non-consanguineous marriage with both the parents being carriers for the mutation c.835_836delAC. The elder brother could not be screened for the carrier status; B. The affected child (shown by arrow) born of non-consanguineous marriage with the mother being carrier for the mutation c.1179–2A>T; C. The affected child (shown by arrow) born of a non-consanguineous marriage with the mother being carrier for the mutation c.835_836delAC. The dihydrorhodamine testing for the elder sister was normal, however, the carrier status has not been screened till date. The mother also had a first-trimester abortion during the second pregnancy (marked as a triangle). The mother’s elder brother had died at day 1 of life. (GIF 765 bytes)

10875_2016_366_MOESM1_ESM.tiff (22 kb)
High resolution image (TIFF 21 kb)
10875_2016_366_MOESM2_ESM.docx (13 kb)
Table S1 (DOCX 13 kb)


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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  • Pandiarajan Vignesh
    • 1
  • Amit Rawat
    • 1
  • Ankur Kumar
    • 1
  • Deepti Suri
    • 1
  • Anju Gupta
    • 1
  • Yu L Lau
    • 2
  • Koon W Chan
    • 2
  • Surjit Singh
    • 1
  1. 1.Pediatric Allergy and Immunology Unit, Advanced Pediatrics Centre, Department of PediatricsPostgraduate Institute of Medical Education and ResearchChandigarhIndia
  2. 2.Department of Pediatrics and Adolescent Medicine, Queen Mary Hospital, LKS Faculty of MedicineThe University of Hong KongHong KongChina

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