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.
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No funding sources for this manuscript.
Conflict of Interest
The authors declare that they have no conflict of interest.
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 was obtained from all individual participants included in the study.
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)
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