An adult autosomal recessive chronic granulomatous disease patient with pulmonary Aspergillus terreus infection

Abstract

BackgroundGenetic mutations that reduce intracellular superoxide production by granulocytes causes chronic granulomatous disease (CGD). These patients suffer from frequent and severe bacterial and fungal infections throughout their early life. Diagnosis is usually made in the first 2 years of life but is sometimes only diagnosed when the patient is an adult although they may have suffered from symptoms since childhood.Case presentationA 26-year-old man was referred with weight loss, fever, hepatosplenomegaly and coughing. He had previously been diagnosed with lymphadenopathy in the neck at age 8 and prescribed anti-tuberculosis treatment. A chest radiograph revealed extensive right-sided consolidation along with smaller foci of consolidation in the left lung. On admission to hospital he had respiratory problems with fever. Laboratory investigations including dihydrorhodamine-123 (DHR) tests and mutational analysis indicated CGD. Stimulation of his isolated peripheral blood neutrophils (PMN) with phorbol 12-myristate 13-acetate (PMA) produced low, subnormal levels of reactive oxygen species (ROS). Aspergillus terreus was isolated from bronchoalveolar lavage (BAL) fluid and sequenced.ConclusionsWe describe, for the first time, the presence of pulmonary A. terreus infection in an adult autosomal CGD patient on long-term corticosteroid treatment. The combination of the molecular characterization of the inherited CGD and the sequencing of fungal DNA has allowed the identification of the disease-causing agent and the optimal treatment to be given as a consequence.

Chronic Granulomatous Disease (CGD): Commonly Associated Pathogens, Diagnosis and Treatment

“…The most frequent fungal infection is invasive aspergillosis caused by Aspergillus fumigatus , followed by Aspergillus nidulans and less common Aspergillus terreus , which has been isolated from bronchoalveolar lavage of patients with CGD [ 16 , 32 ]. Other reported species include Aspergillus niger and Aspergillus tanneri [ 33 ].…”

Chronic Granulomatous Disease (CGD): Pathogens and Management

“…The most frequent fungal infection is invasive aspergillosis caused by Aspergillus fumigatus, followed by Aspergillus nidulans and less common Aspergillus terreus, which has been isolated from bronchoalveolar lavage of patients with CGD [13], [26], [30]. Other reported species include Aspergillus niger and Aspergillus tanneri [31], [32].…”

“…In conjunction with appropriate antimicrobials, steroids help treat hyperactive inflammatory responses [51], [52]. Corticosteroids, despite their effectiveness, are associated with long-term complications such as growth retardation, osteoporosis, and an increased risk of infection [52], [30], [38], [60][61][62][63].…”

Microorganisms and cardiovascular diseases: importance of gut bacteria

“…Fungal populations are also known to cause heart diseases. Among them, Aspergillus fumigatus, A. flavus and A. nidulans have been frequently reported [11].…”

“…Patients with CGD have been reported to suffer from continual bacterial and fungal infections throughout their life. In CGD, granulocytes, monocytes and macrophages reduce phagocytosis due to the lack of synchronization in the production of reactive oxygen species (ROS) which is required to eliminate the pathogenic microorganisms [11,13,14]. Therefore, this is suggestive that CVD inducing microorganisms mainly manifest the opportunistic mode; and CVD is unfortunately caused by the recurrent and/or invasive infections, especially by the catalase-positive bacteria and fungi [11,15].…”