scholarly journals Microbiological profile in chronic granulomatous disease patients in a single Brazilian primary immunodeficiency center

2021 ◽  
Vol 49 (2) ◽  
pp. 217-224
Author(s):  
Aimée Filippini Bifulco Oliveira ◽  
Antonio Carlos Pastorino ◽  
Mayra de Barros Dorna ◽  
Ana Paula Beltran Moschione Castro ◽  
José Roberto Mendes Pegler ◽  
...  
Keyword(s):  
Staphylococcus Aureus ◽  
Chronic Granulomatous Disease ◽  
Primary Immunodeficiency ◽  
Age Of Onset ◽  
Tertiary Hospital ◽  
Granulomatous Disease ◽  
Initial Manifestation ◽  
Adequate Treatment ◽  
Causative Agents ◽  
Aspergillus Sp

Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency. Infections of lung, skin, lymph nodes, and liver are the hallmark of CGD and frequently the initial manifestation of the disease. The aim of the present paper is to describe the sites of infections and their causative agents in 38 pediatric patients with CGD. Methods: This retrospective, single-center cohort study included CGD patients followed at the allergy and immunology unit of a tertiary hospital in São Paulo, Brazil over the last 40 years. Sites of infections and their causative agents were described. Results: Thirty-eight patients were included (36 males). The median age of onset of symptoms was 45 days (ranging from 7 days–7 years), and the median age at diagnosis was 23 months (ranging from 1 month–12 years). In all, 31.6% of the patients reported a family history of child deaths and 21% (eight cases) had another male family member with CGD. The most common infections were pneumonia (81.6%), skin infections (50.0%), adenitis (42.1%), and liver abscess (23.7%); 188 cultures were positive (85.6% bacteria; 14.4% fungi). The most prevalent bacterial agents were Staphylococcus sp. (12.4%), Staphylococcus aureus (11.2%), and Klebsiella pneumoniae (9.3%). Aspergillus sp. and Candida sp. were 56% and 22.2% of the isolated fungi, respectively. Mycobacterium tuberculosis was isolated in 5.6% and Mycobacterium bovis in one patient (0.9%). Conclusion: Staphylococcus sp., Staphylococcus aureus, and Aspergillus sp. were the most frequent agents found in this cohort. M. tuberculosis should be considered in endemic area. Detection of infectious agents drives to the adequate treatment and benefits the evolution of patients with CGD.

scholarly journals Staphylococcus aureus, phagocyte NADPH oxidase and chronic granulomatous disease

2016 ◽  
pp. fuw042 ◽  
Author(s):  
Helene Buvelot ◽  
Klara M. Posfay-Barbe ◽  
Patrick Linder ◽  
Jacques Schrenzel ◽  
Karl-Heinz Krause
Keyword(s):  
Staphylococcus Aureus ◽  
Nadph Oxidase ◽  
Chronic Granulomatous Disease ◽  
Granulomatous Disease ◽  
Phagocyte Nadph Oxidase

Deletion of OLFM4 Rescues Defective Host Defense Against Staphylococcus Aureus, but Not Aspergillus Fumigatus in Murine X-Linked Chronic Granulomatous Disease

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 3276-3276
Author(s):  
Wenli Liu ◽  
Janyce A Sugui ◽  
Hongzhen Li ◽  
Kyung J Kwon-Chung ◽  
Griffin P. Rodgers
Keyword(s):  
Staphylococcus Aureus ◽  
Innate Immunity ◽  
Chronic Granulomatous Disease ◽  
Host Defense ◽  
Cathepsin G ◽  
Granulomatous Disease ◽  
Wild Type ◽  
Cathepsin C ◽  
Host Innate Immunity ◽  
Deficient Mice

Abstract Abstract 3276 Introduction: Chronic granulomatous disease (CGD) patients have recurrent life-threating bacterial and fungal infections due to the mutation of one of four subunits of the respiratory burst oxidase (NADPH-oxidase). Currently, the overall fatality rate in CGD patients remains high, making it necessary to better understand the basic biological processes governing host defense against bacteria and fungi in CGD. Olfactomedin 4 (OLFM4) is a neutrophil granule protein, which has been recently identified as a negative regulator of host innate immunity against bacteria infection in mice through modulation of neutrophil protease activity. The goal of this study was to evaluate the impact of OLFM4 deletion on host innate immunity against Staphylococcus aureus and Aspergillus fumigatus, two major pathogens encountered in CGD patients, in a murine X-linked CGD model. Results: We created gp91phox-and OLFM4-double deficient mice and investigated the mice defense against S. aureus and A. fumigatus infection. We found that neutrophil intracellular killing and in vivo clearance of S. aureus have been significantly increased in gp91phox- and OLFM4-double deficiency mice compared with CGD mice. The mice survival to S. aureus sepsis in gp91phox- and OLFM4-double deficiency mice has also been significantly prolonged compared with CGD mice. Our study has shown that the CGD mice immune deficiency against S. aureus has been totally corrected by additional loss of OLFM4 gene. To explore the mechanism that OLFM4 deletion rescued the bactericidal activities of CGD neutrophils, we analyzed cathepsin C and its downstream protease (neutrophil elastase and cathepsin G) activities in the mice neutrophils. Cathepsin C activities in OLFM4 deficient as well as double deficient mice neutrophils were significantly higher than those in WT mouse neutrophils. Cathepsin C activities in the neutrophils of CGD were similar to those in WT mice. Accordingly, the elastase and cathepsin G activities in the neutrophils of OLFM4 deficient and double deficient mice were also substantially higher than those in WT mice as well as CGD mice. However, we have not observed enhanced innate immunity against A. fumigatus in OLFM4 deficiency mice compared with wild-type mice using a lung infection model. The lung histopathology showed similar inflammation and fungal burden in the OLFM4 deficiency mice compared with wild-type mice. Correspondingly, mice survival to severe A. fumigatus infection did not show significant difference in gp91phox- and OLFM4-double deficiency mice compared with CGD mice, suggesting that OLFM4 may not play a role in mice host defense against A. fumigatus. Conclusion: 1. The damaged neutrophil bacterial killing and host innate immunity against S. aureus in CGD mice due to oxidative mechanism deficiency could be successfully rescued by deletion of OLFM4. 2. These results showed that the granule protease activities in CGD neutrophils could be substantially enhanced above the level in normal neutrophils by deletion of OLFM4, suggesting that the increased of serine proteinase activities due to OLFM4 deletion is NADPH-independent. 3. OLFM4 may not play a role in mice host defense against pulmonary A. fumigatus infection. 4. OLFM4 might prove to be an important target in CGD patients to augment host defense against bacterial infection. Disclosures: No relevant conflicts of interest to declare.

Histopathological features of patients with chronic granulomatous disease

2019 ◽  
Vol 6 (3) ◽  
pp. 107-112
Author(s):  
Paria Kashani ◽  
Haiying Chen
Keyword(s):  
Nadph Oxidase ◽  
Chronic Granulomatous Disease ◽  
Primary Immunodeficiency ◽  
Tissue Injury ◽  
Nicotinamide Adenine Dinucleotide Phosphate ◽  
Granulomatous Inflammation ◽  
Severe Infection ◽  
Granulomatous Disease ◽  
Histopathological Features ◽  
Paediatric Cohort

Introduction: Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defects in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. Affected patients suffer recurrent life-threatening infections due to phagocyte dysfunction and dysregulation of the immune system. Histopathological assessment is important to help identify the extent and severity of infection and tissue injury. Aim: We present pathological findings in 5 patients with CGD who were followed at our centre. Methods: Patient information was reviewed retrospectively in accordance with local institutional guidelines. All patients had confirmed diagnosis of CGD with mutation in one of the 5 subunits of the NADPH oxidase. Results: Histopathological features of the gastrointestinal tract, liver, and spleen are noted, and include the presence of granulomatous inflammation and pigmented macrophages. Discussion: It is essential for clinicians to keep primary immunodeficiency as one of the differential diagnoses in patients with severe infection or inflammation, whether in the absence or presence of granuloma formation. The detection of PAS-positive macrophages, diffuse granulomatous inflammation, and hepatic abscesses should raise strong suspicion of CGD. Statement of novelty: We describe the histopathological findings of a paediatric cohort of patients with CGD.

scholarly journals Olfm4 deletion enhances defense against Staphylococcus aureus in chronic granulomatous disease

2013 ◽  
Vol 123 (9) ◽  
pp. 3751-3755 ◽  
Author(s):  
Wenli Liu ◽  
Ming Yan ◽  
Janyce A. Sugui ◽  
Hongzhen Li ◽  
Chengfu Xu ◽  
...  
Keyword(s):  
Staphylococcus Aureus ◽  
Chronic Granulomatous Disease ◽  
Granulomatous Disease

Human actinomycetoma caused by Actinomadura mexicana in Sudan: the first report

2020 ◽  
Author(s):  
Emmanuel Edwar Siddig ◽  
Bertrand Nyuykonge ◽  
Mohammed Tayfour Ahmed ◽  
Rowa Hassan ◽  
Eiman Siddig Ahmed Saad ◽  
...  
Keyword(s):  
Latin America ◽  
Chronic Granulomatous Disease ◽  
Antibiotic Treatment ◽  
Causative Agent ◽  
Granulomatous Disease ◽  
Complete Cure ◽  
First Report ◽  
Causative Agents ◽  
Actinomadura Madurae

Abstract Mycetoma is a localized, chronic, granulomatous disease that can be caused by fungi (eumycetoma) or bacteria (actinomycetoma). Of the 70 different causative agents implicated in mycetoma worldwide, Actinomadura madurae is the only one that causes multiple cases on all continents. Recently, new Actinomadura species were described as causative agents of human mycetoma. One of these new causative agents was Actinomadura mexicana, which was identified in Latin America. Here we demonstrate that this causative agent is not confined to Latin America and that it is also a causative agent of actinomycetoma in Sudan. The disease was managed by antibiotic treatment alone and resulted in complete cure after 6 months of treatment, which is quick when compared with actinomycetoma cases caused by other Actinomadura species.

scholarly journals Chronic Granulomatous Disease Revealed by Multiple Cystic and Pseudo-tumoral Liver Lesions: One Case Report

2018 ◽  
Vol 10 (1) ◽  
pp. 151-155
Author(s):  
Ibtissam Khattou ◽  
Imane Ait Sab ◽  
Noureddine Rada ◽  
Aicha Bourrahouat ◽  
Btissam Zouita ◽  
...  
Keyword(s):  
Staphylococcus Aureus ◽  
Case Report ◽  
Free Radical ◽  
Nadph Oxidase ◽  
Chronic Granulomatous Disease ◽  
Granulomatous Disease ◽  
Liver Lesions ◽  
Immunodeficiency Disease ◽  
Bacteria And Fungi ◽  
One Year

Chronic Granulomatous Disease (CGD) is a rare immunodeficiency disease described as a lack of destruction of bacteria and fungi phagocytes by neutrophils and macrophages, it is related to an abnormality of NADPH oxidase, a free radical producer of oxygen. The most common aspect of CGD at the age of one year, is an infection of the skin or bone by two bacteria calledstaphylococcus aureusandserratia marcescens. In this article, the authors report a case of CGD revealed by multiple cystic and pseudo-tumoral liver lesions discovered during prolonged fever.

Chronic granulomatous disease due to different mutations in patients from the same consanguineous extended family

2018 ◽  
Vol 5 (2) ◽  
pp. 57-60
Author(s):  
Arnon Broides ◽  
Ronit Gavrieli ◽  
Jacov Levy ◽  
Rachel Levy ◽  
Nurit Hadad ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Primary Immunodeficiency ◽  
Genetic Diagnosis ◽  
Nicotinamide Adenine Dinucleotide Phosphate ◽  
Primary Immunodeficiency Disease ◽  
Genetic Mutation ◽  
Reasonable Assumption ◽  
Granulomatous Disease ◽  
Genetic Causes ◽  
Immunodeficiency Disease

Chronic granulomatous disease is a primary immunodeficiency disease caused by a genetic mutation in any of the 5 genes encoding the different components of the Nicotinamide Adenine Dinucleotide Phosphate reduced (NADPH)-Oxidase enzyme complex. Since primary immunodeficiency diseases are considered to be rare diseases, the genetic diagnosis of a certain primary immunodeficiency leads to the reasonable assumption that all patients with the same disease within the same family will have the same genetic mutation. We report 2 patients with chronic granulomatous disease from the same extended consanguineous family who had different genetic causes of their disease. Therefore, it is crucial to obtain a definitive genetic diagnosis of primary immunodeficiency disease even in patients from the same family, where the same genetic diagnosis is presumed to be the cause of the disease. Statement of novelty: Genetic causes of chronic granulomatous disease may be different in patients from the same family.

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