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

• Published in: Journal of clinical immunology Vol. 37; no. 2; pp. 109 - 112
• Main Authors: Vignesh, Pandiarajan, Rawat, Amit, Kumar, Ankur, Suri, Deepti, Gupta, Anju, Lau, Yu L, Chan, Koon W, Singh, Surjit
• Format: Report
• Language: English
• Published: 01.02.2017
• ISSN: 1573-2592
• DOI: 10.1007/s10875-016-0366-2

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.