Two distinct clinical progressions of P67phox-deficient CGD, both commencing with cervical lymphadenitis

Abstract

We present two rare cases of p67phox-deficient chronic granulomatous disease (CGD) caused by compound heterozygous mutations in the NCF2 gene. They developed cervical lymphadenitis as the initial manifestation of CGD but had distinct clinical progressions. Patient 1 presented with aspergillous meningitis, an extremely rare manifestation of neurological involvement in CGD, which has not been reported before. Patient 2 presented with non-infectious inflammatory lymphadenitis is also very rare and has not been reported previously. These cases emphasize the importance of considering p67phox-deficient CGD in children with late-onset invasive fungal infections and non-infectious inflammatory lesions. Additionally, we also reviewed previous reports of Chinese patients with P67phox-Deficient CGD. Our objective is to raise awareness about the clinical, diagnostic, and genetic characteristics of P67phox-deficient CGD in China, to reduce misdiagnosis and improve the management and prognosis of the disease.

Keywords: Chinese; Chronic granulomatous disease; NCF2 gene; Phenotype; Variant.

Fig. 1

CT scans of Patient 1 with p67phox-deficient CGD, demonstrating cavitary pneumonia (Panel A) and communicating hydrocephalus (Panel B)

Fig. 2

Respiratory burst assay results in Patient 1 with p67phox-deficient CGD, which exhibited a reduced activation rate of 4.5%