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    6754 results match your criteria Chronic Granulomatous Disease

    1 OF 136

    [Chronic vulvar lymphedema revealing Crohn disease in a teenage girl].
    Arch Pediatr 2017 Feb 20. Epub 2017 Feb 20.
    Service de dermatologie, CHU Farhat Hached, avenue Ibn El Jazzar, 4000 Sousse, Tunisie.
    Introduction: Cutaneous Crohn disease is a rare cutaneous manifestation of Crohn disease in children. Herein is reported a case of persistent vulvar lymphedema revealing Crohn disease in a teenage girl.

    Case Report: A 14-year-old girl presented with an 8-month history of persistent vulvar swelling associated with chronic macrocheilia. Read More

    Diagnosis of Interstitial Lung Disease Caused by Possible Hypersensitivity Pneumonitis in a Child: Think CGD.
    J Clin Immunol 2017 Feb 21. Epub 2017 Feb 21.
    Department of Pediatrics, Division of Immunology, Hacettepe University Faculty of Medicine, Sıhhiye, 06100, Ankara, Turkey.
    Interstitial lung disease (ILD) is a rare and heterogeneous group of disorder affecting the lung parenchyma and has a detrimental effect on gas exchange. Chronic granulomatous disease (CGD), when it affects primarily lungs, may cause ILD. We report a 16-year-old patient with CGD caused by homozygous deletion of NCF1 who atypically presented with ILD. Read More

    Immunopathological characterization of human cutaneous leishmaniasis lesions caused by Leishmania (Viannia) spp. in Amazonian Brazil.
    Parasitol Res 2017 Feb 21. Epub 2017 Feb 21.
    Pathology Department, Medical School of São Paulo University, São Paulo, São Paulo, Brazil.
    American cutaneous leishmaniasis (ACL) is a chronic infectious disease caused by different protozoan species of Leishmania, and it is endemic in both tropical and subtropical countries. Using immunohistochemistry, we investigate the density of CD68(+), lysozyme(+), CD1a(+), factor XIIIa(+), CD4(+), CD8(+), CD56(+), interferon (IFN)-γ(+), and inducible NO synthase (iNOS(+)) cells. These cells were analyzed from 22 biopsy samples obtained from the lesions of ACL patients, whose infection was caused by Leishmania (Viannia) spp. Read More

    Prostatic abscess in a patient with chronic granulomatous disease: a multi-disciplinary intervention.
    Urologia 2017 Feb 8. Epub 2017 Feb 8.
    First University Urology Clinic, Laiko Hospital, Athens - Greece.
    Introduction: Chronic granulomatous disease (CGD) is a rare pathology that increases patients' susceptibility to infections, given the inability to generate oxygen radicals to fight microorganisms.In the context of CGD, primary prostatic involvement has been described only once in the past, in a pediatric patient.

    Case Report: We report the case of a 35-year old patient with CGD presenting with persistent fever. Read More

    Clinicopathological diagnosis of orofacial granulomatosis.
    Indian Dermatol Online J 2017 Jan-Feb;8(1):32-34
    Department of Pathology, Ataturk Research and Training Hospital, Izmir, Turkey.
    Orofacial granulomatosis is a rare chronic inflammatory disorder characterized by persistent or recurrent soft tissue swellings, oral ulceration, and other orofacial features in the absence of an identifiable granulomatous disease. We report a case of a 61-year-old woman with recurrent ulcerations and swellings in her oral mucosa. She was diagnosed as orofacial granulomatosis based upon clinicopathological correlation after exclusion of other granulomatous diseases and showed a favorable response to systemic corticosteroid treatment. Read More

    Cyanoacrylate Associated Foreign Body Granulomatous Gastritis: A Report of Three Cases.
    Case Rep Pathol 2017 19;2017:2753487. Epub 2017 Jan 19.
    Department of Pathology, Faculty of Medicine, Hacettepe University, Sıhhiye, 06100 Ankara, Turkey.
    Granulomas are rarely seen in gastric biopsies mostly as an involvement of granulomatous diseases like sarcoidosis, Crohn's disease, infections, neoplasms, and vasculitis. Here, we claim cyanoacrylate as a foreign body type granuloma-causing agent in the stomach after vascular embolisation. We present cyanoacrylate associated gastric changes of three cases: two endoscopic biopsies and one gastric resection. Read More

    Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes.
    Case Reports Immunol 2017 10;2017:2676403. Epub 2017 Jan 10.
    Pediatric Immunology Department, Medical Faculty, Ege University, Izmir, Turkey.
    Chronic granulomatous disease (CGD) is a primary immune deficiency causing predisposition to infections with specific microorganisms, Aspergillus species and Staphylococcus aureus being the most common ones. A 16-year-old boy with a mutation in CYBB gene coding gp91(phox) protein (X-linked disease) developed a liver abscess due to Staphylococcus aureus. In addition to medical therapy, surgical treatment was necessary for the management of the disease. Read More

    Mycetoma in a non-endemic area: a diagnostic challenge.
    BMC Clin Pathol 2017 2;17. Epub 2017 Feb 2.
    Departement of Pathology, Hassan II Teaching Hospital, Fès, Morocco.
    Background: Mycetoma is a chronic granulomatous infectious disease caused by filamentous bacteria or by fungi. The disease is endemic in certain tropical and subtropical areas of the world but can be found elsewhere posing sometimes a diagnostic challenge for clinicians.

    Case Presentation: A 65-year- old man presented with a right foot swelling evolving for 25 years. Read More

    Targeted Repair of CYBB in X-CGD iPSCs Requires Retention of Intronic Sequences for Expression and Functional Correction.
    Mol Ther 2017 Feb;25(2):321-330
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD 20892, USA.
    X-linked chronic granulomatous disease (X-CGD) is an immune deficiency resulting from defective production of microbicidal reactive oxygen species (ROS) by phagocytes. Causative mutations occur throughout the CYBB gene, resulting in absent or defective gp91(phox) protein expression. To correct CYBB exon 5 mutations while retaining normal gene regulation, we utilized TALEN or Cas9 for exon 5 replacement in induced pluripotent stem cells (iPSCs) from patients, which restored gp91(phox) expression and ROS production in iPSC-derived granulocytes. Read More

    Cervicofacial Primary Cutaneous Actinomycosis: Surgical Treatment for Complete Remission of the Disease.
    J Craniofac Surg 2017 Jan 30. Epub 2017 Jan 30.
    Department of Plastic and Reconstructive Surgery, College of Medicine, The Catholic University of Korea, Seoul, Korea.
    Actinomycosis, an infectious bacterial disease caused by Actinomyces species, is very rare and is characterized by contiguous spreading, subacute to chronic granulomatous inflammation and the formation of multiple abscesses and sinus tracts that may discharge sulfur granules. Actinomycosis that presents on the skin without endogenous origin is called primary cutaneous actinomycosis, and the occurrence and treatment of primary cutaneous actinomycosis is rarely reported. This report describes the treatment of primary cervicofacial actinomycosis with a literature review, and emphasizes the importance of surgical option for complete remission of the disease. Read More

    Detection of Mycobacterium avium subsp. paratuberculosis in kidney samples of red deer (Cervus elaphus) in Portugal: evaluation of different methods.
    J Vet Med Sci 2017 Jan 30. Epub 2017 Jan 30.
    CECAV, Centro de Ciência Animal e Veterinária, Universidade de Trás-os-Montes e Alto Douro.
    Paratuberculosis or Johne's disease, caused by Mycobacterium avium subsp. paratuberculosis (Map), is a chronic granulomatous enteritis affecting both domestic and wild ruminants. The present work is part of a wider set of studies designed to assess the prevalence of paratuberculosis in free ranging red deer (Cervus elaphus). Read More

    Impaired Vascular Function in Sarcoidosis Patients.
    Adv Exp Med Biol 2017 Jan 29. Epub 2017 Jan 29.
    Department of Internal Medicine II - Cardiology, Pulmonology and Angiology, University of Bonn, 25 Sigmund-Freud-St, D-53105, Bonn, Germany.
    A common feature of sarcoidosis and atherosclerosis is a chronic systemic inflammatory reaction. Our hypothesis was that sarcoidosis may negatively influence the vessel status. We addressed the issue by examining preatherosclerotic vascular alternations using an ultrasound-based speckle-tracking method in 72 sarcoidosis patients and 15 matched controls. Read More

    Respiratory Complications Lead to the Diagnosis of Chronic Granulomatous Disease in Two Adult Patients.
    J Clin Immunol 2017 Feb 27;37(2):113-116. Epub 2017 Jan 27.
    Clinical Immunology and Internal Medicine, Center for Rare Autoimmune Diseases, Strasbourg University Hospital, CNRS 3572, Strasbourg, France.
    Chronic granulomatous disease (CGD) is a primary immunodeficiency associated to multiple life-threatening bacterial and fungal infections, beginning in childhood. There are rare cases of diagnosis in adulthood. We describe here two cases of late diagnosis in adults: a 45-year-old woman and 59-year-old-man. Read More

    The unusual association of inverse retinitis pigmentosa and Fuchs' heterochromic iridocyclitis.
    Int J Retina Vitreous 2017 23;3. Epub 2017 Jan 23.
    Servicio de Retina y Vítreo, Hospital Luis Sánchez Bulnes, Asociación para Evitar la Ceguera en México, I.A.P, Vicente García Torres 46, Colonia Barrio San Lucas, 04030 Coyoacan, Mexico City, Mexico.
    Background: Classic retinitis pigmentosa (RP) and other syndromic variants have previously been associated to Fuchs' heterochromic iridocyclitis (FHI). Common immunogenic and inflammatory pathways have been proposed to explain the higher incidence of this uveitic phenomenon in patients with retinal dystrophies without definitive answers. Infrequent variants of RP such as inverse RP have not been previously reported in association with FHI. Read More

    O-001 A Diagnostic Approach of Immune Dysregulation on Very Early-Onset IBD.
    Inflamm Bowel Dis 2017 Feb;23 Suppl 1:S1
    *The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania †The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania; and ‡Division of Genetics and Department of Biostatistics and Epidemiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    Background: Immune deficiencies have been associated with inflammatory bowel disease (IBD), and are reported to be particularly enriched in patients with very early-onset IBD (VEO-IBD). However, the actual frequency of primary immune deficiencies in an unselected cohort of patients with VEO-IBD is not known, nor is the optimal screening approach for this population. This study was undertaken to identify a diagnostic approach that will enhance identification of children with primary immune deficiencies who present with VEO-IBD. Read More

    Surgical resection of a rare cutaneous manifestation of Scedosporium apiospermum in a patient who underwent renal transplant.
    BMJ Case Rep 2017 Jan 23;2017. Epub 2017 Jan 23.
    Department of Plastic Surgery, Queen Alexandra Hospital, Portsmouth, UK.
    A man aged 47 years who was immunosuppressed following renal transplantation for focal segmental glomerulosclerosis was referred to the Plastic Surgery team for management of a painful, chronic, granulomatous lesion of the right forearm. Serial ultrasound scans and MRI scans were not diagnostic, but microbiological specimens tested positive for the fungus Scedosporium apiospermum The renal transplant graft-which was failing-was removed, allowing him to cease immunosuppression. He then underwent a resection of the lesion and reconstruction with a split thickness skin graft. Read More

    Making sense of the cause of Crohn's - a new look at an old disease.
    F1000Res 2016 12;5:2510. Epub 2016 Oct 12.
    University College London, London, WC1E 6BT, UK.
    The cause of Crohn's disease (CD) has posed a conundrum for at least a century. A large body of work coupled with recent technological advances in genome research have at last started to provide some of the answers. Initially this review seeks to explain and to differentiate between bowel inflammation in the primary immunodeficiencies that generally lead to very early onset diffuse bowel inflammation in humans and in animal models, and the real syndrome of CD. Read More

    The role of pattern recognition receptors in lung sarcoidosis.
    Eur J Pharmacol 2017 Jan 17. Epub 2017 Jan 17.
    Division of Pharmacology, Utrecht Institute for Pharmaceutical Sciences, Faculty of Sciences, Utrecht University, Utrecht, The Netherlands; Nutricia Research Centre for Specialized Nutrition, Utrecht, The Netherlands.
    Sarcoidosis is a granulomatous disorder of unknown etiology. Infection, genetic factors, autoimmunity and an aberrant innate immune system have been explored as potential causes of sarcoidosis. The etiology of sarcoidosis remains unknown, and it is thought that it might be caused by an infectious agent in a genetically predisposed, susceptible host. Read More

    Pattern recognitions receptors in immunodeficiency disorders.
    Eur J Pharmacol 2017 Jan 14. Epub 2017 Jan 14.
    Mycobacteriology Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Pattern recognition receptors (PRRs) recognize common microbial or host-derived macromolecules and have important roles in early activation and response of the immune system. Initiation of the innate immune response starts with the recognition of microbial structures called pathogen associated molecular patterns (PAMPs). Recognition of PAMPs is performed by germline-encoded receptors expressed mainly on immune cells termed pattern recognition receptors (PRRs). Read More

    Early immunopathological events in acute model of mycobacterial hypersensitivity pneumonitis in mice.
    J Immunotoxicol 2017 Dec 17;14(1):77-88. Epub 2017 Jan 17.
    a Department of Environmental Health, Microbial Pathogenesis and Immunotoxicology Laboratory, Division of Environmental Genetics and Molecular Toxicology , University of Cincinnati College of Medicine , Cincinnati , OH , USA.
    Prolonged exposure to antigens of non-tuberculous mycobacteria species colonizing industrial metalworking fluid (MWF), particularly Mycobacterium immunogenum (MI), has been implicated in chronic forms of hypersensitivity pneumonitis (HP) in machinists based on epidemiology studies and long-term exposure of mouse models. However, a role of short-term acute exposure to these antigens has not been described in the context of acute forms of HP. This study investigated short-term acute exposure of mice to MI cell lysate (or live cell suspension) via oropharyngeal aspiration. Read More

    Chronic signaling via the metabolic checkpoint kinase mTORC1 induces macrophage granuloma formation and marks sarcoidosis progression.
    Nat Immunol 2017 Mar 16;18(3):293-302. Epub 2017 Jan 16.
    Center of Pathobiochemistry and Genetics, Institute of Medical Genetics, Medical University of Vienna, Vienna, Austria.
    The aggregation of hypertrophic macrophages constitutes the basis of all granulomatous diseases, such as tuberculosis or sarcoidosis, and is decisive for disease pathogenesis. However, macrophage-intrinsic pathways driving granuloma initiation and maintenance remain elusive. We found that activation of the metabolic checkpoint kinase mTORC1 in macrophages by deletion of the gene encoding tuberous sclerosis 2 (Tsc2) was sufficient to induce hypertrophy and proliferation, resulting in excessive granuloma formation in vivo. Read More

    DNA Damage Signaling Instructs Polyploid Macrophage Fate in Granulomas.
    Cell 2016 Nov 27;167(5):1264-1280.e18. Epub 2016 Oct 27.
    Department of Rheumatology and Clinical Immunology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany; Center of Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany. Electronic address:
    Granulomas are immune cell aggregates formed in response to persistent inflammatory stimuli. Granuloma macrophage subsets are diverse and carry varying copy numbers of their genomic information. The molecular programs that control the differentiation of such macrophage populations in response to a chronic stimulus, though critical for disease outcome, have not been defined. Read More

    Chronic Colovesical Fistula Leading to Chronic Urinary Tract Infection Resulting in End-Stage Renal Disease in a Chronic Granulomatous Disease Patient.
    Urol Case Rep 2017 Feb 10;11:37-38. Epub 2017 Jan 10.
    University of Iowa, USA.
    A 46-year old man with X-linked chronic granulomatous disease (CGD) being followed at the National Institute of Health with uncontrolled CGD colitis who developed chronic colovesical fistula, and end-stage renal disease (ESRD). Despite aggressive medical management of symptoms with immunomodulators and antibiotic prophylaxis, the chronic colovesical fistula led to chronic pyelonephritis, recurrent urinary tract infections, persistent air in the collecting system and bladder, and post-renal obstruction resulting in renal failure. Patient is now hemodialysis dependent and required diverting loop ileostomy placement. Read More

    A Case of Koch's Spine Treated with Modified Transpedicular Vertebral Curettage and Posterior Fixation: A Novel Technique.
    Cureus 2016 Dec 6;8(12):e915. Epub 2016 Dec 6.
    Orthopaedics, Sumandeep Vidyapeeth, Vadodara, Gujarat.
    Tuberculosis (TB) is a chronic granulomatous infection caused by acid-fast mycobacterium tuberculosis bacilli. Spinal involvement occurs in less than one percent of TB. Spinal TB (Pott's disease) accounts for 50% of skeletal TB. Read More

    Acute sarcoid myopathy: a case report and literature review.
    Sarcoidosis Vasc Diffuse Lung Dis 2016 Dec 23;33(4):413-415. Epub 2016 Dec 23.
    Department of Internal Medicine, Reina Sofía University General Hospital, Murcia, Spain.
    Sarcoidosis is a worldwide spread disease with brad clinical spectrum, in which the pulmonary involvement is the main manifestation (more than 90% of cases); nevertheless, extrathoracic symptoms can predominate in the clinical picture and they may even be the first manifestation. One of them is the skeletal muscle involvement that normally is chronic and silent, with poor response to treatment with glucocorticoids. However, in some cases, it has an acute presentation. Read More

    CRISPR-Cas9 gene repair of hematopoietic stem cells from patients with X-linked chronic granulomatous disease.
    Sci Transl Med 2017 Jan;9(372)
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
    Gene repair of CD34(+) hematopoietic stem and progenitor cells (HSPCs) may avoid problems associated with gene therapy, such as vector-related mutagenesis and dysregulated transgene expression. We used CRISPR (clustered regularly interspaced short palindromic repeat)/Cas9 (CRISPR-associated 9) to repair a mutation in the CYBB gene of CD34(+) HSPCs from patients with the immunodeficiency disorder X-linked chronic granulomatous disease (X-CGD). Sequence-confirmed repair of >20% of HSPCs from X-CGD patients restored the function of NADPH (nicotinamide adenine dinucleotide phosphate) oxidase and superoxide radical production in myeloid cells differentiated from these progenitor cells in vitro. Read More

    Strategies for identifying pulmonary sarcoidosis patients at risk for severe or chronic disease.
    Expert Rev Respir Med 2017 Feb 20;11(2):111-118. Epub 2017 Jan 20.
    a Department of Medicine, Division of Pulmonary and Critical Care Medicine , Albany Medical College , Albany , NY , USA.
    Introduction: Most of the morbidity and mortality resulting from pulmonary sarcoidosis relates to complications of fibrotic disease. Because the fibrosis related to pulmonary sarcoidosis is often of minimal clinical importance, pharmacotherapy is not mandated. However, a small fraction of pulmonary sarcoidosis patients develop significant lung fibrosis, and they could potentially benefit from anti-sarcoidosis therapy. Read More

    Donor-derived mycosis fungoides following reduced intensity haematopoietic stem cell transplantation from a matched unrelated donor.
    BMJ Case Rep 2017 Jan 10;2017. Epub 2017 Jan 10.
    Institute of Immunology and Immunotherapy, University of Birmingham, Birmingham, UK.
    A 46-year-old woman with a history of dasatinib-resistant chronic myeloid leukaemia, clonal evolution and monosomy 7 underwent reduced intensity conditioned in vivo T-cell-depleted allogeneic haematopoietic stem cell transplantation (HSCT) from a matched unrelated donor. Following the transplantation, she developed recurrent cutaneous graft versus host disease (GvHD), which required treatment with systemic immunosuppression and electrocorporeal photophoresis. Concurrently, she developed a lichenoid rash with granulomatous features suggestive of cutaneous sarcoidosis. Read More

    Rhinosporidiosis: Report of an extra-ductal facial lesion.
    IDCases 2017 21;7:40-43. Epub 2016 Dec 21.
    Department of ENT, Government Medical College Kozhikode, Kerala, 673008, India.
    Rhinosporidiosis is a chronic granulomatous mucocutaneous disease that is endemic in South Asia. It commonly affects men in the second to fourth decade of life. The most common site of infection is the nose or nasopharynx with primary involvement of the parotid duct noted very rarely; only four cases reported in literature. Read More

    Rifampicin for Idiopathic Granulomatous Lobular Mastitis: A Promising Alternative for Treatment.
    World J Surg 2017 Jan 3. Epub 2017 Jan 3.
    Pathology Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
    Background: Idiopathic granulomatous lobular mastitis (IGLM) is a chronic, non-caseating, inflammatory breast disease of obscure aetiology characterized by multiple masses, abscesses and sinus formation. There is no standard treatment to date, but surgical procedures and systemic corticosteroids are effective in its treatment despite high recurrence rates.

    Patients And Methods: This prospective study including 30 patients with IGLM between November 2012 and May 2016 aimed to investigate the possibility of administration of Rifampicin (300 mg twice daily for a period of 6-9 months) as an alternative therapy for both surgery and corticosteroids in patients with IGLM. Read More

    Comparative evaluation of diagnostic tests for the detection of Mycobacterium avium subsp. paratuberculosis in the tissues of sheep affected with distinct pathology of paratuberculosis.
    Int J Mycobacteriol 2016 Dec 21;5 Suppl 1:S88-S89. Epub 2016 Oct 21.
    ICAR-National Research Centre on Equines, Hisar, Haryana, India.
    Aims And Objective: Paratuberculosis or Johne's disease is a chronic infectious granulomatous enteritis, mainly of cattle, sheep, goats, and other domestic and wild animals caused by Mycobacterium avium subsp. paratuberculosis (MAP). Currently, MAP has been recognized as an important animal pathogen with significant zoonotic and public health concerns. Read More

    Expression of inflammatory cytokine and inducible nitric oxide synthase genes in the small intestine and mesenteric lymph node tissues of pauci- and multibacillary sheep naturally infected with Mycobacterium avium ssp. paratuberculosis.
    Int J Mycobacteriol 2016 Dec 11;5 Suppl 1:S77-S78. Epub 2016 Nov 11.
    Indian Council of Agricultural Research-National Research Centre on Equines, Hisar, Haryana, India. Electronic address:
    Objective/background: Paratuberculosis (Johne's disease) is a chronic infectious granulomatous enteritis, primarily affecting ruminants, and caused by Mycobacterium avium ssp. paratuberculosis (MAP). The disease is widely prevalent throughout the world with significant economic losses. Read More

    Common features of tuberculosis and sarcoidosis.
    Int J Mycobacteriol 2016 Dec 9;5 Suppl 1:S240-S241. Epub 2016 Nov 9.
    Airways Disease Section, National Heart and Lung Institute, Imperial College London, London, United Kingdom.
    Tuberculosis (TB) is a disease caused by Mycobacterium tuberculosis. Despite the availability of novel therapeutic approaches, TB is considered as one of the leading causes of death due to infectious diseases worldwide. Alveolar macrophages are the first line of defense against M. Read More

    Pathological, bacteriological, and molecular characteristics of natural outbreaks of Johne's disease in goats of Fars Province, Iran.
    Int J Mycobacteriol 2016 Dec 24;5 Suppl 1:S202. Epub 2016 Nov 24.
    Department of Pathobiology, School of Veterinary Medicine, Shiraz University, Shiraz 71345-1731, Iran.
    Objective/background: Johne's disease, also called paratuberculosis, is a very important chronic infectious disease of ruminants worldwide. The causative agent is an acid-fast bacterium, Mycobacterium avium paratuberculosis (MAP). Finding a precise method for detecting MAP is essential for the control and eradication of this disease in small ruminant herds. Read More

    Chronic Granulomatous Disease Due to Neutrophil Cytosolic Factor (NCF2) Gene Mutations in Three Unrelated Families.
    J Clin Immunol 2017 Feb 29;37(2):109-112. Epub 2016 Dec 29.
    Pediatric Allergy and Immunology Unit, Advanced Pediatrics Centre, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.
    Chronic granulomatous disease (CGD) is an inheritable and genetically heterogeneous disease resulting from mutations in different subcomponents of the NADPH oxidase system. Mutations in the NCF2 gene account for <5% of all cases of CGD. We analyzed the clinical and laboratory findings of CGD with mutations in the NCF2 gene from amongst our cohort of CGD patients. Read More

    Granulomatous lobular mastitis secondary to Mycobacterium fortuitum.
    World J Clin Cases 2016 Dec;4(12):409-412
    Armin Kamyab, Department of Surgery, Cox Monett Hospital, Monett, MO 65708, United States.
    Granulomatous lobular mastitis is a rare inflammatory disease of the breast of unknown etiology. Most present as breast masses in women of child-bearing age. A 29-year-old female presented with a swollen, firm and tender right breast, initially misdiagnosed as mastitis. Read More

    Targeted busulfan and fludarabine-based conditioning for bone marrow transplantation in chronic granulomatous disease.
    Korean J Pediatr 2016 Nov 30;59(Suppl 1):S57-S59. Epub 2016 Nov 30.
    Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.
    Chronic granulomatous disease (CGD) is a primary immunodeficiency disease caused by impaired phagocytic function. Hematopoietic stem cell transplantation (HSCT) is a definitive cure for CGD; however, the use of HSCT is limited because of associated problems, including transplantation-related mortality and engraftment failure. We report a case of a patient with CGD who underwent successful HSCT following a targeted busulfan and fludarabine reduced-toxicity myeloablative conditioning. Read More

    Posner-Schlossman syndrome.
    Surv Ophthalmol 2016 Dec 22. Epub 2016 Dec 22.
    Princess Alexandra Eye Pavilion, Edinburgh, United Kingdom.
    Posner-Schlossman syndrome, or glaucomatocyclitic crisis, is a unilateral ocular condition characterized by recurrent attacks of nongranulomatous anterior uveitis and raised intraocular pressure that can result in chronic secondary glaucoma. This relatively rare disease is most likely the result of recurrent cytomegalovirus infection and affects predominantly middle-aged males. Diagnosis is largely clinical, with aqueous and blood sampling aiding the identification of any underlying infectious cause. Read More

    Therapeutic drug monitoring of posaconazole oral suspension in paediatric patients younger than 13 years of age: a retrospective analysis and literature review.
    J Clin Pharm Ther 2017 Feb 16;42(1):75-79. Epub 2016 Dec 16.
    Department of Pharmacotherapy, University of North Texas System College of Pharmacy, Fort Worth, TX, USA.
    What Is Known And Objective: Posaconazole is an extended-spectrum triazole antifungal with activity against a variety of clinically significant yeasts and moulds. Posaconazole is not currently approved by the U.S. Read More

    Beyond bronchitis: a review of the congenital and acquired abnormalities of the bronchus.
    Insights Imaging 2017 Feb 13;8(1):141-153. Epub 2016 Dec 13.
    Department of Imaging Sciences, University of Rochester Medical Center, 601 Elmwood Ave, Box 648, Rochester, NY, 14642, USA.
    Anomalies of the bronchus can be both congenital and acquired. Several different congenital aberrations of the bronchial anatomy are commonly encountered including tracheal bronchus, accessory cardiac bronchus, and bronchial agenesis/aplasia/hypoplasia. In addition, Williams-Campbell syndrome and cystic fibrosis are two other congenital conditions that result in bronchial pathology. Read More

    Staphylococcus aureus, phagocyte NADPH oxidase and chronic granulomatous disease.
    FEMS Microbiol Rev 2016 Dec 12. Epub 2016 Dec 12.
    Divisions of Infectious Diseases and Laboratory Medicine, Geneva University Hospitals, CH-1211 Geneva 4, Switzerland.
    Dysfunction of phagocytes is a relevant risk factor for staphylococcal infection. The most common hereditary phagocyte dysfunction is chronic granulomatous disease (CGD), characterized by impaired generation of reactive oxygen species (ROS) due to loss of function mutations within the phagocyte NADPH oxidase NOX2. Phagocytes ROS generation is fundamental to eliminate pathogens and to regulate the inflammatory response to infection. Read More

    NADPH Oxidase-2 and Atherothrombosis: Insight From Chronic Granulomatous Disease.
    Arterioscler Thromb Vasc Biol 2017 Feb 8;37(2):218-225. Epub 2016 Dec 8.
    From the Division of I Clinica Medica, Policlinico Umberto I, Sapienza University, Rome, Italy (F.V., L.L., P.P.); Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Latina, Italy (R.C.); and Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD (J.I.G.).
    The phagocytic cell enzyme NADPH oxidase-2 (Nox2) is critical for killing micro-organisms via production of reactive oxygen species and thus is a key element of the innate immune system. Nox2 is also detectable in endothelial cells and platelets where it has vasoconstrictive and aggregating properties, respectively. Patients with X-linked chronic granulomatous disease with hereditary Nox2 deficiency not only have impaired bacterial killing but, in association with loss of Nox2 function, also have enhanced carotid artery dilation, impaired platelet-related thrombosis, and reduced carotid atherosclerotic burden. Read More

    The Roles of T Helper 1, T Helper 17 and Regulatory T Cells in the Pathogenesis of Sarcoidosis.
    Iran J Allergy Asthma Immunol 2016 Aug;15(4):334-339
    Mycobacteriology Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Masih Daneshvari Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Sarcoidosis is a systemic granulomatous disorder of unidentified etiology, with a heterogeneous clinical presentation. It is characterized by a reduced delayed-type hypersensitivity to tuberculin and common antigens. The balance between Th1, Th17 and Regulatory T(Treg) cells controls T-cell proliferation and activation. Read More

    Neurosarcoidosis: unusual presentations and considerations for diagnosis and management.
    Postgrad Med J 2016 Dec 5. Epub 2016 Dec 5.
    Department of Neurosurgery, West Virginia University, Morgantown, West Virginia, USA.
    Background: Sarcoidosis is a chronic, multisystem disease characterised by non-necrotising granulomatous inflammation of unknown aetiology. Most commonly, the lungs, lymph nodes, skin and eyes are affected in sarcoidosis; however, nervous system involvement occurs in approximately 5%-15% of cases. Any part of the nervous system can be affected by sarcoidosis. Read More

    A Novel CYBB Mutation in Chronic Granulomatous Disease in Iran.
    Iran J Allergy Asthma Immunol 2016 Oct;15(5):426-429
    Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
    Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder due to a genetic defect in one of the components of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. This complex is composed of membrane-bound gp91-phox and p22-phox subunits, and cytosolic subunits consisting of p47-phox, p67-phox, and p40-phox. A mutation in CYBB gene encoding gp91-phox located on chromosome Xp21. Read More

    Primary immune deficiencies with defects in neutrophil function.
    Hematology Am Soc Hematol Educ Program 2016 Dec;2016(1):43-50
    Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO.
    Immune deficiencies resulting from inherited defects in neutrophil function have revealed important features of the innate immune response. Although sharing an increased susceptibility to bacterial and fungal infections, these disorders each have distinctive features in their clinical manifestations and characteristic microbial pathogens. This review provides an update on several genetic disorders with impaired neutrophil function, their pathogenesis, and treatment strategies. Read More

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