Article
Gastroenterology & Hepatology
Sumona Bhattacharya, Yilun Koethe, Alexander Ling, Natasha Kamal, Sajneet Khangura, Meghna Alimchandani, Martha M. Quezado, Christa S. Zerbe, Harry L. Malech, John I. Gallin, Steven M. Holland, Theo Heller, Elizabeth Jones, Aradhana M. Venkatesan
Summary: Gastrointestinal abnormalities are commonly observed on CT in CGD patients, with bowel wall thickening correlating with endoscopic and histopathologic evidence of inflammation, which can help guide directed endoscopic assessment and histopathologic sampling.
DIGESTIVE DISEASES AND SCIENCES
(2022)
Review
Allergy
Alexander H. Yang, Brigit Sullivan, Christa S. Zerbe, Suk See De Ravin, Andrew M. Blakely, Martha M. Quezado, Beatriz E. Marciano, Jamie Marko, Alexander Ling, David E. Kleiner, John I. Gallin, Harry L. Malech, Steven M. Holland, Theo Heller
Summary: Chronic granulomatous disease (CGD) is a rare inborn immune deficiency disorder caused by a defect in nicotinamide adenine dinucleotide phosphate oxidation, leading to reduced production of reactive oxygen species by phagocytes. The main symptoms include recurrent infections and chronic inflammatory disorders. Current management strategies focus on antimicrobial prophylaxis and controlling inflammatory complications. Hematopoietic stem cell transplantation is the definitive treatment option. CGD commonly affects the gastrointestinal tract and liver, causing structural changes, dysmotility, CGD-associated inflammatory bowel disease, liver abscesses, and noncirrhotic portal hypertension. The clinical manifestations can be diverse and managing them can be challenging due to the underlying immune dysfunction. This review summarizes the various clinical findings and latest research on the management of gastrointestinal and hepatic manifestations in CGD, as well as the management experience at the National Institutes of Health.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2023)
Article
Immunology
Milica Miladinovic, Boris Wittekindt, Sebastian Fischer, Elise Gradhand, Steffen Kunzmann, Stefanie Y. Zimmermann, Shahrzad Bakhtiar, Thomas Klingebiel, Rolf Schloesser, Thomas Lehrnbecher
Summary: Chronic granulomatous disease (CGD) is a primary immunodeficiency diagnosed in most patients between one and three years of age. Symptoms can appear within the first six weeks of life, with pulmonary complications and skin lesions being common. The clinical features are highly diverse and the long-term prognosis for children with early onset CGD remains unknown due to lack of specified follow-up.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Gastroenterology & Hepatology
Sumona Bhattacharya, Uni Wong, Mian Khalid, Hanna Blaney, Matthew G. Menkart, Jenna L. Oringher, Sonia L. Taneja, Christa S. Zerbe, Suk See De Ravin, Harry L. Malech, Steven M. Holland, Christopher Koh, Theo Heller
Summary: Patients with chronic granulomatous disease (CGD) may develop inflammatory bowel disease (IBD), but there is limited information about small bowel disease in this population. This study aimed to determine the prevalence and characteristics of small bowel disease, as well as evaluate the usefulness of video capsule endoscopy (VCE) for diagnosis. The results showed a high prevalence of small bowel IBD in patients with CGD, and radiology and duodenal/ileal disease did not correlate with VCE findings. Therefore, VCE-driven investigation should be considered for small bowel disease in CGD-associated IBD patients, especially those with colonic disease.
JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Juan Agustin Garay, Juan Eduardo Silva, Maria Silvia Di Genaro, Roberto Carlos Davicino
Summary: Nitric oxide (NO) is a signaling molecule that regulates various biological functions. It is involved in processes such as cutaneous inflammations, mitochondrial functions, vascular diseases, COVID-19, and more. Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder related to NO, but the underlying mechanisms are still unknown.
Article
Immunology
Timothy Lok-Hin Chiu, Daniel Leung, Koon-Wing Chan, Hok Man Yeung, Chung-Yin Wong, Huawei Mao, Jianxin He, Pandiarajan Vignesh, Weiling Liang, Woei Kang Liew, Li-Ping Jiang, Tong-Xin Chen, Xiang-Yuan Chen, Yin-Bo Tao, Yong-Bin Xu, Hsin-Hui Yu, Alta Terblanche, David Christopher Lung, Cheng-Rong Li, Jing Chen, Man Tian, Brian Eley, Xingtian Yang, Jing Yang, Wen Chin Chiang, Bee Wah Lee, Deepti Suri, Amit Rawat, Anju Gupta, Surjit Singh, Wilfred Hing Sang Wong, Gilbert T. Chua, Jaime Sou Da Rosa Duque, Kai-Ning Cheong, Patrick Chun-Yin Chong, Marco Hok-Kung Ho, Tsz-Leung Lee, Wanling Yang, Pamela P. Lee, Yu Lung Lau
Summary: This study compares the phenomic differences between XL-CGD and AR-CGD. The results show that XL-CGD patients have an earlier onset, diagnosis, and genetic diagnosis compared to AR-CGD patients, and are more commonly affected in the integument and central nervous system. Specific HPO terms such as perianal abscess, cutaneous abscess, and elevated hepatic transaminase are correlated with XL-CGD.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Immunology
Paige M. Mortimer, Esme Nichols, Joe Thomas, Rachna Shanbhag, Neha Singh, Eve L. Coomber, Talat H. Malik, Matthew C. Pickering, Lyra Randzavola, William Rae, Sagar Bhattad, David C. Thomas
Summary: Chronic Granulomatous Disease (CGD) is an immune disorder characterized by opportunistic infection and granulomatous inflammation. CGD5 is caused by the lack of EROS, which leads to decreased expression of various proteins. The exact nature of this disease is still unknown, but a mutation is likely to be the underlying cause.
CLINICAL IMMUNOLOGY
(2023)
Article
Pediatrics
Manisha Jana, Pallavi Sinha, Palak Garg, Priyanka Naranje, Sushil K. Kabra, Ashu Seith Bhalla
Summary: This study aimed to describe the prevalence of different imaging findings and identify imaging biomarkers for differentiating chest infections caused by different micro-organisms in patients with chronic granulomatous disease (CGD). The study found that fungal infections were more likely to be associated with multifocal or multilobar consolidation, mass-like consolidation, cavitating nodules, and conglomerate necrotic lymphadenopathy compared to bacterial infections in CGD patients.
INDIAN JOURNAL OF PEDIATRICS
(2022)
Article
Biochemistry & Molecular Biology
Diana Medina-Felix, Francisco Vargas-Albores, Estefania Garibay-Valdez, Luis Rafael Martinez-Cordova, Marcel Martinez-Porchas
Summary: In this research, the effects of Nocardia infection on fish gastrointestinal microbiota were analyzed. It was found that the infection led to decreased survival rate, severe damage to the stomach microbiota, and a significant increase in Proteobacteria. A negative correlation network between Proteobacteria and other important phyla was observed. Therefore, Nocardia sp. is an emerging pathogen capable of inducing dysbiosis and causing significant mortalities.
COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY D-GENOMICS & PROTEOMICS
(2024)
Article
Medicine, General & Internal
Er-Yan Meng, Zi-Ming Wang, Bing Lei, Li-Hong Shang
Summary: CGD is most common in childhood and characterized by recurrent and severe bacterial and fungal infections. A 24-day-old male infant in this case developed gastrointestinal symptoms as the first sign of CGD, which is quite rare. Prompt diagnosis and treatment with broad-spectrum antibiotics were crucial for managing the condition.
WORLD JOURNAL OF CLINICAL CASES
(2021)
Review
Medicine, General & Internal
M. A. Slatter, A. R. Gennery
Summary: Chronic granulomatous disease is an immune deficiency disorder characterized by defects in enzyme function that leads to the inability to kill microorganisms, resulting in infections and inflammatory complications. Hematopoietic stem cell transplantation has shown progress in treating CGD patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Microbiology
Angel A. Justiz-Vaillant, Arlene Faye-Ann Williams-Persad, Rodolfo Arozarena-Fundora, Darren Gopaul, Sachin Soodeen, Odalis Asin-Milan, Reinand Thompson, Chandrashekhar Unakal, Patrick Eberechi Akpaka
Summary: Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by a defect in the phagocytic function of the innate immune system. The most common pathogens associated with CGD are Staphylococcus aureus and Aspergillus spp. Treatment options include antibacterial and antifungal prophylaxis, interferon gamma immunotherapy, and hematopoietic stem cell transplantation (HCT).
Article
Immunology
Ridhima Aggarwal, Sanjib Mondal, Archana Angrup, Pandiarajan Vignesh, Amit Rawat
Summary: Reports of Stenotrophomonas maltophilia infections in primary immunodeficiency diseases are rare. This study presents three cases of children with chronic granulomatous disease (CGD) who developed S. maltophilia infections, one with septicemia and two with pneumonia. It is proposed that CGD is a risk factor for S. maltophilia infections and children with unexplained S. maltophilia infections should be evaluated for CGD.
PEDIATRIC INFECTIOUS DISEASE JOURNAL
(2023)
Review
Hematology
Andrew R. Gennery
Summary: Chronic granulomatous disease is a primary immunodeficiency caused by a defect in one of the six subunits that make up the nicotinamide adenine dinucleotide phosphate oxidase complex. Common symptoms include bacterial and fungal infections, as well as inflammatory complications. Hematopoietic stem cell transplantation and gene therapy offer potential cures for the disease.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)
Article
Veterinary Sciences
Jasmin Nicole Nessler, Anna Oevermann, Marina Schawacht, Ingo Gerhauser, Ingo Spitzbarth, Sophie Bittermann, Frank Steffen, Martin Juergen Schmidt, Andrea Tipold
Summary: Meningoencephalitis of unknown origin (MUO) is a group of encephalitides in dogs where no infectious agent can be identified. This study finds that the boundaries between necrotizing and granulomatous variants of MUO may be smooth, blurring the distinction between necrotizing leukoencephalitis (NLE), necrotizing meningoencephalitis (NME), and granulomatous meningoencephalitis (GME).
FRONTIERS IN VETERINARY SCIENCE
(2022)
