8,402 results match your criteria Chronic Granulomatous Disease


Multi-omic Signatures of Chronic Beryllium Disease Bronchoalveolar Lavage Cells Relate to T Cell Function and Innate Immunity.

Am J Respir Cell Mol Biol 2022 Aug 16. Epub 2022 Aug 16.

National Jewish Health, Denver, Colorado, United States.

Chronic beryllium disease (CBD) is a Th1 granulomatous lung disease preceded by sensitization to beryllium (BeS). We profiled the methylome, transcriptome and selected proteins in the lung to identify molecular signatures and networks associated with BeS and CBD. Bronchoalveolar lavage (BAL) cell DNA and RNA were profiled using microarrays from CBD (n=30), BeS (n=30), and controls (n=12). Read More

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Sulphamethoxazole-trimethoprim induced fixed drug eruption in a patient with Chronic Granulomatous Disease.

Qatar Med J 2022 7;2022(2). Epub 2022 Apr 7.

Adult Allergy and Immunology Section, Department of Medicine, Hamad Medical Corporation, Doha, Qatar E-mail:

Chronic granulomatous disease (CGD) is a known Primary immunodeficiency disease that results in recurrent, life-threatening bacterial, fungal infections and granuloma formation which requires lifelong antibacterial and antifungal prophylaxis. Sulphamethoxazole-trimethoprim (TMP-SMX/Septrin) is the prophylactic antibacterial drug of choice. Adverse drug reactions, including Fixed Drug Eruption (FDE) to TMP-SMX in CGD patients, are challenging as it may result in serious complications and difficulties in management. Read More

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Granulomatous hepatitis in a Saudi child with defect: a case report and literature review.

Ther Adv Chronic Dis 2022 9;13:20406223221116798. Epub 2022 Aug 9.

Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, P.O. Box 80205, Jeddah 21589, Saudi Arabia.

Interleukin-2 receptor alpha () defect (OMIM- # 606367) is an immune disease where affected patients are vulnerable to developing recurrent microbial infections in addition to lymphadenopathy and dermatological manifestations. This condition is known to be caused by pathogenic variants in the gene, which are inherited in an autosomal recessive fashion. In this case report, we present a patient with defect from Saudi Arabia who presented with chronic diarrhea, poor weight gain, mild villous atrophy, malnutrition, hepatomegaly, nonspecific inflammation, and an eczematous skin rash. Read More

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Correction to: Hematopoietic Stem Cell Transplantation in late-onset X-linked Chronic Granulomatous Disease in a female carrier.

J Clin Immunol 2022 Aug 11. Epub 2022 Aug 11.

Department of Medicine, Surgery, and Health Sciences, University of Trieste, Via dell'Istria 65/1, 34137, Trieste, Italy.

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A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease.

J Clin Immunol 2022 Aug 10. Epub 2022 Aug 10.

San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Pediatric Immunohematology and Bone Marrow Transplantation Unit, San Raffaele Scientific Institute, Via Olgettina, 60, 20123, Milan, Italy.

X-linked chronic granulomatous disease is a rare disease caused by mutations in the CYBB gene. While more extensive knowledge is available on genetics, pathogenesis, and possible therapeutic options, mitochondrial activity and its implications on patient monitoring are still not well-characterized. We have developed a novel protocol to study mitochondrial activity on whole blood of XCGD patients before and after transplantation, as well as on XCGD carriers. Read More

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Anterior and posterior uveitis associated with juvenile idiopathic arthritis -case report.

Rom J Ophthalmol 2022 Apr-Jun;66(2):185-190

Department of Ophthalmology "Iuliu Hațieganu" University of Medicine and Pharmacy Cluj-Napoca, Romania; Department of Ophthalmology, County Emergency Hospital, Cluj-Napoca, Romania.

Anterior uveitis is the most common extra-articular manifestation in children diagnosed with Juvenile idiopathic arthritis (JIA). It is typically a non-granulomatous, chronic, and asymptomatic uveitis. The lack of acute symptoms often delays the diagnosis with the incidence of severe ocular complications. Read More

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Occupational and environmental exposures in the Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) study.

Respir Med 2022 Jun 30;200:106923. Epub 2022 Jun 30.

Yale University School of Medicine, Department of Medicine (Pulmonary, Critical Care and Sleep), USA. Electronic address:

Introduction: Sarcoidosis is a granulomatous disorder thought to be caused by exposures in genetically susceptible individuals. This study investigated whether specific exposures were associated with different sarcoidosis phenotypes.

Methods: Extensive demographic, occupational and environmental exposure data was analyzed from subjects enrolled in the NHLBI Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) study. Read More

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Molecular epidemiology of Coxiella burnetii detected in humans and domestic ruminants in Turkey.

Vet Microbiol 2022 Jul 30;273:109519. Epub 2022 Jul 30.

Depertmant of Clinical Microbiology and Infectious Disease, Ondokuz Mayıs University, Samsun, Turkey.

Q fever is a zoonotic disease that is known to be widespread throughout the world by many researches since its discovery in 1935 and it is important in terms of animal and public health. Coxiella burnetii, which is the etiological agent of the disease, is an obligate intracellular pathogen. While the disease generally manifests itself with abortion in animals, disease manifests as atypical pneumonia or granulomatous hepatitis in the acute form and as endocarditis in the chronic form in humans. Read More

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Takayasu Arteritis Presenting As Epileptic Seizure: A Case Report.

Cureus 2022 Jul 2;14(7):e26520. Epub 2022 Jul 2.

Neurology, Tribhuvan University Institute of Medicine, Kathmandu, NPL.

Takayasu's arteritis is a chronic granulomatous large-vessel vasculitis condition that affects the large and medium-sized arteries, primarily the heart and its major vessels. The first symptoms and indicators of Takayasu arteritis differ because the afflicted arteries are heterogeneous. Furthermore, vascular lesions might be difficult to identify at first, further complicating diagnosis. Read More

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Spectrum of imaging findings in Takayasu arteritis-A case report.

Radiol Case Rep 2022 Oct 27;17(10):3470-3474. Epub 2022 Jul 27.

Department of Radiodiagnosis and Imaging, Shahid Gangalal National Heart Centre, Bansbari, Kathmandu, Nepal.

Takayasu arteritis (TA) is an uncommon chronic granulomatous inflammatory disease often affecting the aorta and its branches. Early diagnosis is quite challenging due to nonspecific symptoms and unfamiliarity with the disease. We hereby present a case of a young female patient diagnosed with Type V Takayasu arteritis using several radiological imaging modalities such as color and spectral Doppler study and computed tomography angiography. Read More

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October 2022

Inborn Errors of Immunity in Patients with Adverse Events Following BCG Vaccination in Brazil.

J Clin Immunol 2022 Jul 30. Epub 2022 Jul 30.

Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.

Objective: The Bacille Calmette-Guérin (BCG) vaccine is routinely applied in Brazil. Adverse events (AE) may occur in patients with inborn or acquired immunodeficiencies, varying between local (BCGitis) or disseminated (BCGosis) reactions. We evaluated 53 individuals with local or disseminated adverse events to BCG vaccination to assess if they had inborn errors of immunity (IEI). Read More

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Langerhans' cell histiocytosis of the retropharynx: first reported case.

Ann R Coll Surg Engl 2022 Jul 29. Epub 2022 Jul 29.

Leeds Teaching Hospitals NHS Trust, UK.

Langerhans' cell histiocytosis (LCH) is a rare condition characterised by histiocyte proliferation leading to destructive granulomatous lesions. It may occur anywhere in the body but extraosseous manifestations affecting the head and neck are particularly uncommon. Here, we present the first reported case of a mass arising in the retropharyngeal space caused by LCH. Read More

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Mycetoma management and clinical outcomes: the Mycetoma Research Center experience.

Trans R Soc Trop Med Hyg 2022 Jul 28. Epub 2022 Jul 28.

Mycetoma Research Center, University of Khartoum, Khartoum 11115, Sudan.

Background: Mycetoma is a chronic granulomatous inflammatory disease that affects the cutaneous and subcutaneous tissues, leading to gruesome complications if not treated early. As a neglected disease, it has received scant attention in developing curable drugs. Mycetoma treatment is still based on expert opinions in the absence of guidelines. Read More

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Optical Genomic Mapping Identified a Heterozygous Structural Variant in NCF2 Related to Chronic Granulomatous Disease.

J Clin Immunol 2022 Jul 28. Epub 2022 Jul 28.

Department of Allergy and Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.

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Mycetoma by Actinomadura madurae in the central nervous system: Renal transplant receptor disease.

Clin Case Rep 2022 Jul 25;10(7):e6071. Epub 2022 Jul 25.

Medical Research Unit in Renal Diseases, Specialties Hospital, National Western Medical Centre Mexican Institute of Social Security Guadalajara Jalisco Mexico.

The mycetoma is a granulomatous chronic disease, subcutaneous disease is the common presentation, very few cases are reported affecting central nervous system, but there are not cases in Renal Transplant (RT). Read More

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Behcet's Disease Mimicking Crohn's Disease: A Diagnostic Pitfall in GI Tract Biopsies.

Int J Surg Pathol 2022 Jul 27:10668969221113477. Epub 2022 Jul 27.

Department of Pathology, 8784University of California San Diego, La Jolla, CA, USA.

Behcet's disease is a rare entity. It's a multi-systemic inflammatory disease of unknown etiology characterized by recurrent ulcers and vasculitis, mainly including the oral cavity, eyes, gastrointestinal tract and joints. Crohn's disease is a chronic inflammatory disorder that may affect the same organs as Behcet's disease, however more frequently the gastrointestinal tract. Read More

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Fever Correlation with Erythrocyte Sedimentation Rate (ESR) and C-Reactive Protein (CRP) Concentrations in Patients with Isolated Polymyalgia Rheumatica (PMR): A Retrospective Comparison Study between Hospital and Out-of-Hospital Local Registries.

Life (Basel) 2022 Jun 30;12(7). Epub 2022 Jun 30.

Katedra Reumatologii i Chorób Wewnętrznych, Klinika Chorób Wewnętrznych Reumatologii Diabetologii Geriatrii i Immunologii Klinicznej PUM, 71-457 Szczecin, Poland.

Background: Polymyalgia rheumatica (PMR) is the most common systemic inflammatory rheumatic disease affecting the elderly. Giant cell arteritis (GCA) is a granulomatous vasculitis affecting the aorta and its branches associated with PMR in up to 20% of cases. In recent studies based on university hospital registries, fever correlated with the erythrocyte sedimentation rate (ESR) but not with C-reactive protein (CRP) concentrations at the time of diagnosis in patients with isolated PMR. Read More

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The Clinical Chameleon of Autoinflammatory Diseases in Children.

Cells 2022 Jul 18;11(14). Epub 2022 Jul 18.

Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.

The very first line of defense in humans is innate immunity, serving as a critical strongpoint in the regulation of inflammation. Abnormalities of the innate immunity machinery make up a motley group of rare diseases, named 'autoinflammatory', which are caused by mutations in genes involved in different immune pathways. Self-limited inflammatory bouts involving skin, serosal membranes, joints, gut and other districts of the human body burst and recur with variable periodicity in most autoinflammatory diseases (ADs), often leading to secondary amyloidosis as a long-term complication. Read More

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[IgG4-related ophthalmopathy].

Arkh Patol 2022 ;84(4):45-50

Sechenov First Moscow State Medical University, Moscow, Russia.

IgG4-related disease is a chronic inflammatory fibrosing disease of unknown etiology, characterized by the presence of volumetric lesions that can clinically simulate malignant tumors, a pronounced IgG4-positive lymphoplasmacytic infiltrate, and an increase in the level of IgG4 in the blood serum. A special form of the disease is IgG4-related ophthalmopathy, which requires differential diagnosis with inflammatory pseudotumor, lymphoma and granulomatous polyangiitis. 7 clinical cases of IgG4-related ophthalmopathy are presented. Read More

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Systematic whole-genome sequencing reveals an unexpected diversity among actinomycetoma pathogens and provides insights into their antibacterial susceptibilities.

PLoS Negl Trop Dis 2022 07 25;16(7):e0010128. Epub 2022 Jul 25.

Centre for Bacterial Cell Biology, Biosciences Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.

Mycetoma is a neglected tropical chronic granulomatous inflammatory disease of the skin and subcutaneous tissues. More than 70 species with a broad taxonomic diversity have been implicated as agents of mycetoma. Understanding the full range of causative organisms and their antibiotic sensitivity profiles are essential for the appropriate treatment of infections. Read More

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Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Front Immunol 2022 8;13:883446. Epub 2022 Jul 8.

Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, National Taiwan University Children's Hospital, Taipei, Taiwan.

To address inborn errors of immunity (IEI) which were underdiagnosed in resource-limited regions, our centre developed and offered free genetic testing for the most common IEI by Sanger sequencing (SS) since 2001. With the establishment of The Asian Primary Immunodeficiency (APID) Network in 2009, the awareness and definitive diagnosis of IEI were further improved with collaboration among centres caring for IEI patients from East and Southeast Asia. We also started to use whole exome sequencing (WES) for undiagnosed cases and further extended our collaboration with centres from South Asia and Africa. Read More

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Renal sarcoidosis.

Nephrol Dial Transplant 2022 Jul 22. Epub 2022 Jul 22.

Albany Medical Center, Albany, NY, USA.

Renal sarcoidosis (RS) is a rare form of sarcoidosis that results in granulomatous inflammation of renal parenchyma. We describe the epidemiology, pathogenesis, clinical features, diagnostic approach, treatment strategies and outcomes of this condition. RS occurs most commonly at the time of initial presentation of sarcoidosis but can at any time along the course of the disease. Read More

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Crohn's Disease of the Vulva: a Case Report.

Folia Med (Plovdiv) 2021 Dec;63(6):990-993

MD,PhD, Piraeus, Greece.

Crohn's disease is a multi-systemic chronic inflammatory disease that can affect various organs besides the gastrointestinal tract such as joints, uvea, and the skin. Vulvar Crohn's disease is a rare entity occurring with vulvar lesions that show typical Crohn's disease granulomatous inflammation but are not contiguous with the gastrointestinal involvement. Vulvar Crohn's disease can be easily confused with other granulomatous diseases and awareness that such involvement may precede gastrointestinal symptoms must be raised. Read More

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December 2021

The pathological and outcome characteristics of renal lesions in Crohn's disease.

BMC Nephrol 2022 07 18;23(1):256. Epub 2022 Jul 18.

The Division of Nephrology, The Sixth Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Colorectal and Pelvic Floor Diseases, Guangzhou, China.

Background: The inflammatory bowel disease, containing Crohn's disease and ulcerative colitis, was rare in the population, especially in the complication of kidney disease. A few studies had found proteinuria played a potential indicator of inflammatory bowel disease occurrence and activity. This study aimed to better define the histopathologic spectrum and study the outcome of renal disease in Crohn's disease. Read More

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Multifocal Trichosporon asahii Infection in a Patient With Chronic Granulomatous Disease.

J Pediatric Infect Dis Soc 2022 Jul 18. Epub 2022 Jul 18.

Division of Pediatric Infectious Diseases, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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Pulmonary actinomycosis as a cause of chronic productive cough in a heavy smoker male with poor dental hygiene: A case report.

Clin Case Rep 2022 Jul 11;10(7):e6031. Epub 2022 Jul 11.

Department of Infectious Diseases Hamad Medical Corporation Doha Qatar.

Pulmonary actinomycosis is a rare chronic granulomatous bacterial disease caused by Actinomyces species. Given its nonspecific clinical and radiological manifestations, the diagnosis might be delayed or even missed. Pulmonary actinomycosis mimics tuberculosis, aspergillosis, or malignancy both clinically and radiographically, and it should be considered in patients with chronic lung diseases. Read More

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Offense and Defense in Granulomatous Inflammation Disease.

Front Cell Infect Microbiol 2022 29;12:797749. Epub 2022 Jun 29.

Shaanxi International Joint Research Center for Oral Diseases, State Key Laboratory of Military Stomatology, Department of Histology and Pathology, School of Stomatology, The Fourth Military Medical University, Xi'an, China.

Granulomatous inflammation (GI) diseases are a group of chronic inflammation disorders characterized by focal collections of multinucleated giant cells, epithelioid cells and macrophages, with or without necrosis. GI diseases are closely related to microbes, especially virulent intracellular bacterial infections are important factors in the progression of these diseases. They employ a range of strategies to survive the stresses imposed upon them and persist in host cells, becoming the initiator of the fighting. Read More

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Clinical features and outcomes of patients with chronic granulomatous disease in Taiwan.

J Microbiol Immunol Infect 2022 Jul 6. Epub 2022 Jul 6.

Department of Pediatrics, National Taiwan University Children's Hospital, Taipei, Taiwan. Electronic address:

Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disease characterized by defective neutrophil killing of microbial pathogens and recurrent infections. We aimed to investigate the clinical, genetic features, treatment, and outcomes in patients with CGD.

Methods: Pediatric patients diagnosed with CGD from a medical center in Taiwan were enrolled from January 1999 to Oct 2021. Read More

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Algerian Registry for Inborn Errors of Immunity in Children: Report of 887 Children (1985-2021).

J Clin Immunol 2022 Jul 15. Epub 2022 Jul 15.

Department of Pediatrics, Bologhine Ibn Ziri Public Hospital, Rue Aboumoussa El Achaari Hammamet 16060, Algiers, Algeria.

Introduction: Inborn errors of immunity (IEI) represent a heterogeneous large group of genetic disorders characterized by susceptibility of affected individuals to recurrent infections, autoimmune/inflammatory diseases, allergy, and malignancy. We aimed to report for the first time the Algerian registry for IEI in children.

Methods: We described the characteristics of IEI in Algerian children from the data collected in the Algerian registry for IEI between 1985 and 2021. Read More

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Type 2 immunity: a two-edged sword in schistosomiasis immunopathology.

Trends Immunol 2022 Aug 12;43(8):657-673. Epub 2022 Jul 12.

Cytokines and Diseases Group, International Centre for Genetic Engineering and Biotechnology, Cape Town Component, Division of Immunology, Institute of Infectious Diseases and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa; Wellcome Centre for Infectious Diseases Research in Africa, Institute of Infectious Diseases and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa. Electronic address:

Schistosomiasis is the second most debilitating neglected tropical disease globally after malaria, with no available therapy to control disease-driven immunopathology. Although schistosomiasis induces a markedly heterogenous immune response, type 2 immunity is the dominating immune response following oviposition. While type 2 immunity has a crucial role in granuloma formation and host survival during the acute stage of disease, its chronic activation can result in tissue scarring, fibrosis, and organ impairment. Read More

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