Article
Two distinct clinical progressions of P67phox-deficient CGD, both commencing with cervical lymphadenitis.
Italian journal of pediatrics - 5 Nov 2024
Dong Lili, Zhang Lei, Xu Chunna, Guo Mingfa, Tang Yu, Shen Yuelin
Abstract excerpt
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....
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