Long-term observational studies of chronic granulomatous disease

Kanariou, Maria; Spanou, Kleopatra; Tantou, Sofia

doi:10.1097/moh.0000000000000396

Cited by 8 publications

(6 citation statements)

References 59 publications

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“…These advances in gene therapy have facilitated more accurate treatment procedures [84]. Furthermore, gene therapy as a cure for CGD is a crucial area of focus, specifically for patients with X-linked and p47 mutations [87].…”

Section: Gene Therapymentioning

confidence: 99%

Chronic Granulomatous Disease (CGD): Pathogens and Management

Justiz-Vaillant,

Williams-Persad,

Arozarena-Fundora

et al. 2023

Preprint

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Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by a defect in the phagocytic function of the innate immune system owing to mutations in genes encoding the five subunits of the nicotinamide adenine dinucleotide (NADPH) oxidase enzyme complex. This review aimed to provide a comprehensive approach to the pathogens associated with chronic granulomatous disease (CGD) and its management. The topics covered included common pathogens infecting CGD patients, granulomas, and CGD-related infectious diseases, including invasive aspergillosis, Mulch pneumonitis, and liver abscesses. In addition, we also covered the differential diagnosis of CGD and its management. Patients with CGD, often children, have recurrent life-threatening infections and may develop infectious or inflammatory complications. The most common microorganisms observed in the patients with CGD are Staphylococcus aureus, Aspergillus spp, Candida spp, Nocardia spp, Burkholderia spp, Serratia spp, and Salmonella spp. Triple-dose antimicrobial prophylaxis with empiric regimens is recommended. Therefore, therapeutics against this disease must be optimised, considering the lack of curative therapies and the long-term side effects of prophylactic regimens. Consequently, allogeneic haematopoietic stem cell transplantation from a human leukocyte antigen-identical donor has been proven to cure CGD.

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Section: Gene Therapymentioning

confidence: 99%

Chronic Granulomatous Disease (CGD): Pathogens and Management

Justiz-Vaillant,

Williams-Persad,

Arozarena-Fundora

et al. 2023

Preprint

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“…Mutations affecting neutrophil function confer susceptibility to invasive candidiasis, in contrast to the selective susceptibility to mucosal candidiasis associated with loss of adaptive immunity and IL-17 signaling. Patients with Chronic Granulomatous Disease (CGD) suffer from invasive fungal disease due primarily to filamentous fungi, although invasive candidiasis is also reported (Wolach et al, 2017;Kanariou et al, 2018;Lionakis and Levitz, 2018). CGD results from mutations causing defective NADPH oxidase, which abrogate the oxidative burst required for phagocytes to kill microorganisms (Wolach et al, 2017;Lionakis and Levitz, 2018).…”

Section: Opportunistic Mucosal Infections Bymentioning

confidence: 99%

Advances in Understanding Human Genetic Variations That Influence Innate Immunity to Fungi

Merkhofer

Klein

2020

Front. Cell. Infect. Microbiol.

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Fungi are ubiquitous. Yet, despite our frequent exposure to commensal fungi of the normal mammalian microbiota and environmental fungi, serious, systemic fungal infections are rare in the general population. Few, if any, fungi are obligate pathogens that rely on infection of mammalian hosts to complete their lifecycle; however, many fungal species are able to cause disease under select conditions. The distinction between fungal saprophyte, commensal, and pathogen is artificial and heavily determined by the ability of an individual host's immune system to limit infection. Dramatic examples of commensal fungi acting as opportunistic pathogens are seen in hosts that are immune compromised due to congenital or acquired immune deficiency. Genetic variants that lead to immunological susceptibility to fungi have long been sought and recognized. Decreased myeloperoxidase activity in neutrophils was first reported as a mechanism for susceptibility to Candida infection in 1969. The ability to detect genetic variants and mutations that lead to rare or subtle susceptibilities has improved with techniques such as single nucleotide polymorphism (SNP) microarrays, whole exome sequencing (WES), and whole genome sequencing (WGS). Still, these approaches have been limited by logistical considerations and cost, and they have been applied primarily to Mendelian impairments in anti-fungal responses. For example, loss-of-function mutations in CARD9 were discovered by studying an extended family with a history of fungal infection. While discovery of such mutations furthers the understanding of human antifungal immunity, major Mendelian susceptibility loci are unlikely to explain genetic disparities in the rate or severity of fungal infection on the population level. Recent work using unbiased techniques has revealed, for example, polygenic mechanisms contributing to candidiasis. Understanding the genetic underpinnings of susceptibility to fungal infections will be a powerful tool in the age of personalized medicine. Future application of this knowledge may enable targeted health interventions for susceptible individuals, and guide clinical decision making based on a patient's individual susceptibility profile.

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“…В некоторых случаях развиваются хронические воспалительные клеточные очаги, состоящие из лимфоцитов и гистиоцитов, которые затем могут образовывать гранулемы -одну из отли-О Р И Г И н А л ь н ы е с т А т ь И чительных черт ХГБ. Другие типы хронического воспаления: неинфекционный артрит, гингивит, хориоретинит или увеит, гломерулонефрит, реже -очаги поражения белого вещества головного мозга, дискоидная и даже системная красная волчанка [23][24][25][26][27][28][29].…”

Section: Russian Children's Clinical Hospital Of the Pirogov Russian unclassified

The experience of hematopoietic stem cell transplantation in primary immunodeficiencies in the Russian Children's Clinical Hospital

Мачнева

Скоробогатова

Пристанскова

et al. 2019

Voprosy gematologii/onkologii i immunopatologii v pediatrii

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Primary immunodeficiencies (PID) include a group of congenital diseases, many of which are associated with a high risk of developing life-threatening infectious and non-infectious complications. Many of PIDs require hematopoietic stem cell transplantation (HSCT), which can lead to a complete cure of the disease. The article presents more than 20 years of experience in conducting HSCT with PID in the Russian Children's Clinical Hospital for the period from 1997 to 2018. 88 HSCTs were performed in 80 patients (64 boys and 16 girls) with various PIDs: severe combined immune deficiency (SCID, n = 34), hemophagocytic lymphohistiocytosis (HLH, n = 12), chronic granulomatous disease (CGD, n = 11), Wiskott–Aldrich syndrome (WAS, n = 10), congenital agranulocytosis (n = 4), hyper IgM syndrome type 1 (n = 3), Nijmegen breakage syndrome (n = 2), lymphoproliferative syndrome (n = 2), Chediak–Higashi syndrome (n = 1), leukocyte adhesion deficiency (n = 1). Оverall survival (OS) and event-free survival (EFS) after HSCT with PID was 63.1% and 49.3%. OS after HSCT with SCID was 65.5%, EFS – 48.4%. The article presents the results of HSCT taking into account the type of HSCT, the source of hematopoietic stem cells (HSC) and the type of graft manipulation, conditioning regimen. Growth of positive results of HSCT in patients with PID in recent years is associated with the improvement of accompanying therapy (improving the quality of infection control, the introduction of new drugs for the prevention and treatment of hepatic veno-occlusive disease); technology application TcRα+β+/CD19+ depletion at haploidentical transplantation; optimization of conditioning regimens; successes in the prevention and treatment of the graftversus- host disease (antithymocyte globulin and rituximab administration during the period of conditioning, post-transplant administration of cyclophosphamide at haploidentical HSCT). The study was approved by the Independent Ethics Committee of Russian Children's Clinical Hospital.

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Long-term observational studies of chronic granulomatous disease

Abstract: The genetics and phenotype of CGD is well characterized; however, the underlying mechanisms, the treatment of its inflammatory manifestations and the cure of CGD is under further investigation.

Cited by 8 publications

References 59 publications

Chronic Granulomatous Disease (CGD): Pathogens and Management

Chronic Granulomatous Disease (CGD): Pathogens and Management

Advances in Understanding Human Genetic Variations That Influence Innate Immunity to Fungi

The experience of hematopoietic stem cell transplantation in primary immunodeficiencies in the Russian Children's Clinical Hospital

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