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.

SUBMITTER: Dong L 

PROVIDER: S-EPMC11539424 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature