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10.1002/rcr2.99

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C4469140!4469140!26090111
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suck abstract from ncbi


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pmid26090111      Respirol+Case+Rep 2015 ; 3 (2): 54-6
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  • Chronic granulomatous disease presenting as refractory pneumonia in late adulthood #MMPMID26090111
  • Sarwar G; de Malmanche T; Rassam L; Grainge C; Williams A; Arnold D
  • Respirol Case Rep 2015[Jun]; 3 (2): 54-6 PMID26090111show ga
  • We present a case of refractory pneumonia in an adult patient with underlying chronic granulomatous disease (CGD). Her lobectomy tissue grew Burkholderia cepacia and histopathology revealed diffuse severe pneumonic consolidation with suppurative/necrotizing granulomata. An initial attempt to find an underlying immune deficiency was unsuccessful. Following recurrent invasive infections, repeat immunological assessment revealed reduced neutrophil function, demonstrating skewed carrier status (lyonization) for X-linked CGD (only 3% normal cells). A pathogenic mutation in the CYBB gene was found on sequencing. CYBB gene encodes the gp91phox, a catalytic subunit of nicotinamide adenine dinucleotide phosphate-oxidase that produces reactive oxygen species in phagocytes. Lyonization increases with age, explaining the delayed clinical CGD. CGD is a rare neutrophil disorder that usually presents in early life with recurrent infections due to bacteria and fungi primarily involving lungs and skin. It is secondary to a defective NADPH oxidase system needed to kill intracellular organisms and activate the formation of neutrophil extracellular traps.
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