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

Abstract

BACKGROUND:

Genetic 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 PRESENTATION:

A 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.

CONCLUSIONS:

We 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.

• Authors: Esmaeil Mortaz, Somayeh Sarhifynia, Majid Marjani, Afshin Moniri, Davood Mansouri, Payam Mehrian, Karin van Leeuwen, Dirk Roos, Johan Garssen, Ian M Adcock, Payam Tabarsi
• Journal: BMC infectious diseases (BMC Infect Dis) Vol. 18 Issue 1 Pg. 552 (Nov 08 2018) ISSN: 1471-2334 [Electronic] England
• PMID: 30409207 (Publication Type: Journal Article)

Chemical References

• Adrenal Cortex Hormones
• DNA, Fungal
• Reactive Oxygen Species
• Rhodamines
• dihydrorhodamine 123
• Tetradecanoylphorbol Acetate

Topics

• Adrenal Cortex Hormones (therapeutic use)
• Adult
• Aspergillus (genetics, isolation & purification)
• Base Sequence
• Bronchoalveolar Lavage Fluid (microbiology)
• DNA Mutational Analysis
• DNA, Fungal (chemistry, isolation & purification, metabolism)
• Granulomatous Disease, Chronic (complications, diagnosis, drug therapy)
• Humans
• Lung (diagnostic imaging)
• Male
• Neutrophils (cytology, drug effects, metabolism)
• Reactive Oxygen Species (metabolism)
• Respiratory Tract Infections (complications, diagnosis, microbiology)
• Rhodamines (analysis)
• Tetradecanoylphorbol Acetate (pharmacology)
• Tomography, X-Ray Computed