Open AccessChronic granulomatous disease presenting as refractory pneumonia in late adulthood
Author(s) -
Sarwar Ghulam,
Malmanche Theo,
Rassam Loui,
Grainge Christopher,
Williams Andrew,
Arnold David
Publication year - 2015
Publication title -
respirology case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.304
H-Index - 9
ISSN - 2051-3380
DOI - 10.1002/rcr2.99
Subject(s) - chronic granulomatous disease , nadph oxidase , primary immunodeficiency , immunology , nicotinamide adenine dinucleotide phosphate , medicine , biology , oxidase test , immune system , microbiology and biotechnology , reactive oxygen species , genetics , enzyme , biochemistry
We present a case of refractory pneumonia in an adult patient with underlying chronic granulomatous disease ( CGD ). Her lobectomy tissue grew B urkholderia 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.