Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes

Abstract

Chronic granulomatous disease (CGD) is a primary immune deficiency causing predisposition to infections with specific microorganisms, Aspergillus species and Staphylococcus aureus being the most common ones. A 16-year-old boy with a mutation in CYBB gene coding gp91phox protein (X-linked disease) developed a liver abscess due to Staphylococcus aureus. In addition to medical therapy, surgical treatment was necessary for the management of the disease. A 30-month-old girl with an autosomal recessive form of chronic granulomatous disease (CYBA gene mutation affecting p22phox protein) had invasive aspergillosis causing pericarditis, pulmonary abscess, and central nervous system involvement. The devastating course of disease regardless of the mutation emphasizes the importance of early diagnosis and intervention of hematopoietic stem cell transplantation as soon as possible in children with CGD.

Role of the Aspergillus-Specific IgG and IgM Test in the Diagnosis and Follow-Up of Chronic Pulmonary Aspergillosis

“…Assessment of patient population characteristics in our study revealed that CPA was more likely to occur in patients with COPD, other chronic lung diseases and in patients with a history of corticosteroid usage, which was consistent with previously published studies (De Pauw et al, 2008; Eren Akarcan et al, 2017; Garth and Steele, 2017). At first, we measured Aspergillus -specific antibody levels in the CPA, non-CPA and healthy control patients, and discovered that levels of both As-IgG and As-IgM were in the lower limit in healthy controls.…”

Pentraxin 3 in bronchoalveolar lavage fluid and plasma in non-neutropenic patients with pulmonary aspergillosis

“…We measured PTX3 in BALF and plasma in 431 patients initially suspected of having pulmonary aspergillosis. The morbidity of COPD and bronchiectasis in aspergillosis was significantly greater than in non-aspergillosis, and more patients in the aspergillosis group had a history of corticosteroid use, which was consistent with the findings of previous studies [18,19]. BALF and plasma PTX3 levels in aspergillosis subjects were greater than for the nonaspergillosis groups.…”

“…After dividing the aspergillosis group into IPA (n ¼ 17), SAIA (n ¼ 19), and CPA (n ¼ 15) subgroups, the median (IQR) BALF PTX3 levels in IPA were significantly higher than in SAIA or CPA (18.28 (7.21e13.51) ng/mL versus 6.97 (2.70e13. 19) ng/mL versus 3.60 (1.03e6.95) ng/mL, p <0.05; p <0.05) while the difference between SAIA and CPA was not significant (p 0.113) (Fig. 2b).…”