Although it is well known that carriers of the autosomal dominant gp91phox form of chronic granulomatous disease (CGD) can develop disorders of immune dysregulation, no similar predilection has been seen in carriers of the autosomal recessive (AR) p47phox mutation.
We report a case of hypersensitivity pneumonitis (HP) in an AR CGD carrier with interstitial lung disease via CT and precipitating antibodies to Candida albicans and Aspergillus niger.
A 29yo female known p47phox mutation carrier presented with an over one-year history of cough unsuccessfully treated with antibiotics and bronchodilators. A chest X-ray showed bilateral pneumothoraces. CT demonstrated diffuse bilateral coarse reticular interstitial opacities. An open lung biopsy showed diffuse parenchymal lung disease, with severe pulmonary fibrosis (peribronchiolar to alveolar interstitial and pleural) with mild mononuclear inflammation and few poorly formed non-necrotizing peribronchiolar granulomas. Environmental history was remarkable for water damage in the home and visible mold. The patient’s daughter presented with CGD three years earlier with culture negative granulomatous lung disease. The daughter had precipitating antibodies to parakeet, which was present in her home, and pathology consistent with HP. The patient is currently on a tapering course of prednisone and vacating her apartment.
Granulomatous lung disease with features compatible with HP has been previously described in CGD. Here we report that AR CGD carriers may also have increased susceptibility to HP. We speculate that this predisposition to HP may result from a disordered immunological response to environmental antigens due to altered reactive oxygen intermediate production by macrophages in CGD carriers.