Mulch pneumonitis in a patient with chronic granulomatous disease.
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ABSTRACT:
SUBMITTER: Cowan J
PROVIDER: S-EPMC9828936 | biostudies-literature | 2022 Nov
REPOSITORIES: biostudies-literature
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Mulch pneumonitis in a patient with chronic granulomatous disease.
Cowan Juthaporn J Pakhale Smita S Angel Jonathan B JB
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 20221101 44
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Project description:Chronic Granulomatous Disease is a primary immunodeficiency syndrome caused by a phagocytic defect, characterized by recurrent, life-threatening bacterial and fungal infections and an excessive inflammatory response. We present the case of a boy with disease's symptoms mainly from the genitourinary tract. We describe diagnostic difficulties and atypical cystoscopic images, which showed bright morphotic elements of unclear etiology moving in the vessels of the bladder mucosa. These lesions were retrospectively interpreted as clusters of white blood cells (granulomas). Due to the lack of description of a similar phenomenon in the literature, we would like to make the recorded endoscopic images available.
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Project description:Chronic Granulomatous Disease (CGD), caused by genetic defects in components of the phagocyte NADPH oxidase pathway, leads to recurrent life-threatening bacterial and invasive fungal infections. While a number of unique pathogens have been associated with this disease, the causative organisms may be difficult to identify. Here, we present a 24 year old male with known X-linked CGD who concurrently developed a cervical abscess and an abscess in the subcutaneous tissues of the right hip, both of which were surgically drained. Cultures failed to identify any organisms. He was treated empirically with ertapenem but the hip abscess recurred at the original site and in contiguous dependent areas in the posterior thigh and knee. A filamentous organism was observed microscopically, initially considered a contaminant, but on culture yielded a mold growth, identified as Phellinus tropicalis (synonym: Inonotus tropicalis) based on phenotypic and molecular methods. This is the third case report of human infection with P. tropicalis, all in subjects with CGD. The patient was treated with voriconazole with resolution of his symptoms.
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Project description:Chronic granulomatous disease (CGD) is a paradigm for nonlymphoid primary immune defects, and has guided elucidation of oxygen metabolism in the phagocyte, vasculature, and brain. It has been in the forefront of the development of antimicrobial prophylaxis before the advent of advanced HIV and before its routine use in neutropenia. It has been an attractive target for gene therapy and bone marrow transplantation for nonmalignant diseases. Therefore, CGD is worthy of attention for its historical interest and because it is a disease for which expert management is imperative.
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Project description:IntroductionChronic granulomatous disease (CGD) is a primary immunodeficiency characterized by recurrent, life-threatening bacterial and fungal infections of the skin, the airways, the lymph nodes, the liver, the brain and the bones. Frequently found pathogens are Staphylococcus aureus, Aspergillus species, Klebsiella species, Burkholderia cepacia, Serratia marcescens and Salmonella species.Sources of dataCGD is a rare (∼1:250 000 individuals) disease caused by mutations in any one of the five components of the NADPH oxidase in phagocytic leucocytes. This enzyme generates superoxide and is essential for intracellular killing of pathogens by phagocytes.Areas of agreementCGD patients suffer not only from life-threatening infections, but also from excessive inflammatory reactions.Areas of controversyNeither the cause of these inflammatory reactions nor the way to treat them is clear.Areas timely for developing researchPatient selection for and timing of bone marrow transplantation along with gene therapy.
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Project description:PurposeAdenitis for which no causative organism can be isolated is a common occurrence in patients with chronic granulomatous disease (CGD). Here we identify Acidomonas methanolica as a pathogen associated with adenitis in a patient with CGD.MethodsThe causative pathogen was obtained after prolonged incubation of an excised lymph node in thioglycolate broth. Identification was carried out by sequencing the 16s rRNA. Immunoblots were prepared utilizing protein extracts from the case patient's A. methanolica isolate, an ATCC type strain of A. methanolica and G. bethesdensis.ResultsFastidious gram-negative rods grew after prolonged incubation of an excised lymph node in thioglycolate broth. Sequencing of the 16s rRNA identified the organism as A. methanolica. Immunoblot confirmed the pathogen's role in the patient's adenitis by showing the patient's specific immune response to the organism.ConclusionsA. methanolica is the second member of the family, Acetobacteaceae to be associated with adenitis in patients with CGD.
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Project description:Polymorphonuclear leukocytes (PMNs) were obtained from healthy individuals (Healthy1, Healthy2, Healthy3, and Healthy4) or patients with X-linked chronic granulomatous disease (XCGD1, XCGD2, XCGD3, XCGD4, XCGD5, and XCGD6). The studies were performed in accordance with a protocol approved by the Institutional Review Board for Human Subjects, National Institute of Allergy and Infectious Diseases, and the Institutional Review Board for Human Subjects at the University of Iowa. All studies were conducted according to Declaration of Helsinki principles. PMNs (107) were combined with or without IgG and C3bi-coated latex beads (8 x 107) in wells of a 12-well tissue culture plate (pre-coated with 20% normal human serum) and centrifuged at 350 x g for 8 min at 4oC to synchronize phagocytosis. For the purpose of these studies, activated or "Stimulated" PMNs are defined as those that have been stimulated by phagocytosis of IgG- and C3bi-coated latex beads. "Control" PMNs are defined as resting cells or those left unstimulated throughout the time-course. Following centrifugation, plates were incubated at 37 deg. C in a CO2 for the indicated times. At the indicated times, tissue culture medium was aspirated from the plate and PMNs were lysed directly with RLT buffer (Qiagen, Valencia, CA). Purification of PMN RNA and subsequent preparation of labeled cRNA target (12 g) was performed as described in Methods. Labeling of samples, hybridization of cRNA with Hu95Av2 oligonucleotide arrays (Affymetrix, Santa Clara, CA), and scanning were performed according to standard Affymetrix protocols. Gene expression in healthy control and XCGD individuals was always compared at the same time points after phagocytosis Keywords = HUMAN PMN CHRONIC GRANULOMATOUS DISEASE NEUTROPHILS Keywords: parallel sample
2003-12-31 | GSE935 | GEO
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Project description:Herein, we present a case of successfully treated biopsy-proven Rasamsonia argillacea species complex myocarditis, pericarditis, and pulmonary infection in a 35-year-old male with a history of chronic granulomatous disease. Computed tomography of the chest demonstrated numerous pulmonary nodules and mass-like pulmonary lesions, and subsequent cardiac magnetic resonance imaging demonstrated an infiltrating mass-like lesion within the interventricular septum and pericarditis. Endobronchial, thoracoscopic, and eventual myocardial biopsies with cultures were ultimately reported as positive for R. argillacea species and the patient was treated with tailored antifungal therapy resulting in a significant therapeutic response upon short interval follow-up. This case stresses the importance of recognizing unusual thoracic imaging manifestations of an atypical fungal infection in immunocompromised individuals in order to expedite treatment of an otherwise potentially fatal disease.
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