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Chronic granulomatous disorder

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https://www.readbyqxmd.com/read/27917630/a-novel-cybb-mutation-in-chronic-granulomatous-disease-in-iran
#1
Shaghayegh Tajik, Mohsen Badalzadeh, Mohammad Reza Fazlollahi, Massoud Houshmand, Fariborz Zandieh, Shamim Khandan, Zahra Pourpak
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 Xp21.1, leads to X-linked CGD. Herein, we report a 4-year-old Iranian boy presented with episodes of recurrent fever, cervical lymphadenopathy, and abdominal abscesses...
October 2016: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/27913461/primary-immune-deficiencies-with-defects-in-neutrophil-function
#2
Mary C Dinauer
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. These include chronic granulomatous disease, which results from inactivating mutations in the superoxide-generating nicotinamide dinucleotide phosphate oxidase...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27889190/diagnosis-of-multiple-sclerosis-progress-and-challenges
#3
REVIEW
Wallace J Brownlee, Todd A Hardy, Franz Fazekas, David H Miller
The diagnosis of multiple sclerosis is based on neurological symptoms and signs, alongside evidence of dissemination of CNS lesions in space and time. MRI is often sufficient to confirm the diagnosis when characteristic lesions accompany a typical clinical syndrome, but in some patients, further supportive information is obtained from cerebrospinal fluid examination and neurophysiological testing. Differentiation is important from other diseases in which demyelination is a feature (eg, neuromyelitis optica spectrum disorder and acute disseminated encephalomyelitis) and from non-demyelinating disorders such as chronic small vessel disease and other inflammatory, granulomatous, infective, metabolic, and genetic causes that can mimic multiple sclerosis...
November 23, 2016: Lancet
https://www.readbyqxmd.com/read/27865245/adolescent-with-recurrent-tuberculosis-can-it-be-chronic-granulomatous-disease
#4
Yashashree Gupta, Ira Shah
Chronic granulomatous disease (CGD) is an inherited primary immunodeficiency disorder with recurrent bacterial and fungal infections like Staphylococcus aureus, Nocardia spp, Serratia marcescens, Burkholderia cepacia, Salmonella spp. and Aspergillus species. We present a 13-year-old male child who had 3 episodes of tuberculosis (TB) at 5 years, 8 years and 13 years of age, respectively, with no other intercurrent infections and who was diagnosed as CGD at the age of 13 years. This case highlights the possibility of phenotypic variations of CGD...
July 2016: Indian Journal of Tuberculosis
https://www.readbyqxmd.com/read/27830291/-cutaneous-involvement-in-chronic-inflammatory-bowel-disease-crohn-s-disease-and-ulcerative-colitis
#5
REVIEW
L Richter, K Rappersberger
BACKGROUND: Over recent decades, both the incidence and prevalence of chronic inflammatory bowel disease have continued to rise in industrialized countries; the disease is frequently associated with extracutaneous involvement and comorbidity. OBJECTIVES: The purpose of this work was to investigate the frequency and specificity of mucocutaneous manifestations in Crohn's disease (CD) and ulcerative colitis (UC). MATERIALS AND METHODS: An extensive search in peer-reviewed journals via PubMed was performed; presented is a summary and analysis of various studies and data, including data of patients treated at our department...
December 2016: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/27785664/genetic-phagocyte-nadph-oxidase-deficiency-enhances-nonviable-candida-albicans-induced-inflammation-in-mouse-lungs
#6
Daiki Endo, Kenta Fujimoto, Rika Hirose, Hiroko Yamanaka, Mizuki Homme, Ken-Ichi Ishibashi, Noriko Miura, Naohito Ohno, Yasuaki Aratani
Patients with chronic granulomatous disease (CGD) have mutated phagocyte NADPH oxidase, resulting in reduced production of reactive oxygen species (ROS). While the mechanism underlying hyperinfection in CGD is well understood, the basis for inflammatory disorders that arise in the absence of evident infection has not been fully explained. This study aimed to evaluate the effect of phagocyte NADPH oxidase deficiency on lung inflammation induced by nonviable Candida albicans (nCA). Mice deficient in this enzyme (CGD mice) showed more severe neutrophilic pneumonia than nCA-treated wild-type mice, which exhibited significantly higher lung concentrations of interleukin (IL)-1β, tumor necrosis factor (TNF)-α, and keratinocyte-derived chemokine (KC)...
October 26, 2016: Inflammation
https://www.readbyqxmd.com/read/27758994/causes-of-death-in-patients-with-chronic-sarcoidosis
#7
Xiaowen Hu, Eva M Carmona, Eunhee S Yi, Patricia A Pellikka, Jay Ryu
INTRODUCTION: Sarcoidosis is a multi-system, granulomatous disorder of unknown etiology that is associated with a variable prognosis and sometimes results in death. There are conflicting reports regarding the causes of death in patients with sarcoidosis. METHODS: Forty-four consecutive patients with sarcoidosis who underwent an autopsy (35 patients) or died at Mayo Clinic (Rochester, MN, USA) over a 20-yr period, from January 1, 1994 to December 31, 2013 were analyzed...
October 7, 2016: Sarcoidosis, Vasculitis, and Diffuse Lung Diseases: Official Journal of WASOG
https://www.readbyqxmd.com/read/27699571/clinical-immunological-and-molecular-findings-of-patients-with-p47-phox-defect-chronic-granulomatous-disease-cgd-in-indian-families
#8
Manasi Kulkarni, Mukesh Desai, Maya Gupta, Aparna Dalvi, Prasad Taur, Antony Terrance, Sunil Bhat, Mamta Manglani, Revathi Raj, Ira Shah, Manisha Madkaikar
Chronic granulomatous disease (CGD) is a group of inherited disorder of phagocytes, resulting from mutations in the components of the NADPH oxidase complex. Reduced or absent oxygen radical synthesis seen in these patients leads to impaired killing of intracellular bacteria and fungi. CGD clinically presents with recurrent and life-threatening infections as well as granulomatous inflammatory responses. p47(phox) encoded by the NCF1 gene is the most common autosomal recessive form of CGD which is often clinically milder...
October 3, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27694095/anterior-uveitis-as-the-first-sign-of-human-african-trypanosomiasis-a-case-report
#9
L N Nsiangani, D Kaimbo Wa Kaimbo, M L Kazumba
We report the case of a 13-year-old girl who consulted for blurred vision, pain, and redness in her left eye. Ophthalmologic examination revealed chronic, hypertensive, and non-granulomatous anterior uveitis. The disease course was marked by a reversal of diurnal rhythm, with daytime sleepiness and behavioral disorders. A neuropsychiatric examination suggested human African trypanosomiasis (HAT), or sleeping sickness. The diagnosis was confirmed by the detection of Trypanosoma in the cerebrospinal fluid. The NECT regimen (nifurtimox-eflornithine combination therapy) was administered as medical treatment and resulted in the disappearance of all clinical signs...
August 1, 2016: Médecine et Santé Tropicales
https://www.readbyqxmd.com/read/27692490/-primary-immunodeficiencies-in-seriously-ill-children-report-of-3-clinical-cases
#10
Leticia Yañez, Pamela Lama, Carolina Rivacoba, Juanita Zamorano, Maria Angélica Marinovic
: Primary immunodeficiency diseases (PID) are congenital disorders secondary to an impaired immune response. Infections, autoimmune disorders, atopy, and lymphoproliferative syndromes are commonly associated with this disorder. OBJECTIVE: To present and discuss 3 infants diagnosed with PID. CLINICAL CASES: The cases are presented of three patients with PID diagnosed during their first admission to a Paediatric Intensive Critical Care Unit...
September 27, 2016: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/27619324/a-variety-of-gene-polymorphisms-associated-with-idiopathic-granulomatous-mastitis
#11
Sebahattin Destek, Vahit Onur Gul, Serkan Ahioglu
Idiopathic granulomatous mastitis (IGM) is a rare and chronic inflammatory disorder. IGM mimics breast cancer regarding its clinical and radiological features. Etiology of IGM remains unclarified. Our patient was 37-year-old and 14 weeks pregnant. There was pain, redness and swelling in the right breast. The mass suggestive of malignancy was detected in sonography. Serum CA 125 and CA 15-3 levels were high. Genetic analysis was performed for the etiology. methylenetetrahydrofolate reductase (MTHFR) C 677 TT, β-fibrinogen-455 G>A, plasminogen activator inhibitor (PAI)-1 5 G/5 G, angiotensin-converting enzyme (ACE) I/D mutation was found...
2016: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/27541278/review-for-diagnostics-of-the-year-multimodal-imaging-in-beh%C3%A3-et-uveitis
#12
Ilknur Tugal-Tutkun, Pınar Cakar Ozdal, Merih Oray, Sumru Onal
Behçet disease is a chronic relapsing multisystem inflammatory disorder. Ocular involvement is characterized by a bilateral recurrent non-granulomatous panuveitis and retinal vasculitis. Posterior segment findings vary during the course of the disease, in parallel with the relapsing and remitting intraocular inflammation. Structural alterations occur with increased disease duration. Fluorescein angiography is the gold standard in revealing the extent and severity as well as the leaky and/or occlusive nature of retinal vasculitis...
August 19, 2016: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/27516029/the-value-of-histopathological-diagnosis-in-the-elderly-patients-with-granulomatous-dermatoses-case-series
#13
Mihail Alexandru Badea, Corneliu Florin Buicu, Anca Ileana Sin, Ovidiu Simion Cotoi, Iudita Maria Badea, Andreea Luciana Chiotoroiu, Silviu Horia Morariu
Granulomatous inflammations are a particular type of chronic septic or aseptic inflammation, in which infectious or non-infectious agents are difficult to eliminate by the immune system. These are type IV hypersensitivity reactions mediated by pre-sensitized T-lymphocytes cells CD4+ and CD8+ lymphocytes. Disorders included in this category are: tuberculosis, leprosy, syphilis, sarcoidosis, type I diabetes, multiple sclerosis, Crohn's disease and rheumatoid arthritis. At cutaneous level, this pattern of granulomatous reaction is characterized by a chronic inflammation with formation of granulomas consisting of a variable number of histiocytes, multinucleated giant cells and lymphocytes...
2016: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/27514771/amyloidosis-as-a-renal-complication-of-chronic-granulomatous-disease
#14
Sepideh Darougar, Farin Rashid Farokhi, Shaghayegh Tajik, Nooshin Baghaie, Mehrdad Amirmoini, Bahram Bashardoust, Seyed Karen Hashemitari, Seyed Alireza Mahdaviani
Chronic granulomatous disease is a rare primary immunodeficiency disorder, which leads to increased susceptibility to recurrent infections and severe inflammatory manifestations.  There have been reports regarding different aspects of genitourinary involvement in chronic granulomatous disease, some of which are hydronephrosis, granulomatous cystitis, and glomerulonephritis, but among these complications, amyloidosis is rather rare. We report a patient with chronic granulomatous disease that developed amyloidosis later in the course of the disease...
July 2016: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/27497975/thoracic-surgery-in-chronic-granulomatous-disease-a-25-year-single-institution-experience
#15
Paul L Feingold, Humair S Quadri, Seth M Steinberg, Harry L Malech, John I Gallin, Christa S Zerbe, Kol A Zarember, Beatrice E Marciano, Steven M Holland, David S Schrump, Robert T Ripley
INTRODUCTION: Chronic granulomatous disease (CGD) is a genetic disorder in which phagocyte dysfunction leads to recurrent infection. Persistent pulmonary infections sometimes require thoracic surgical intervention. We reviewed our 25-year experience to identify outcomes and prognostic factors associated with thoracic surgery in these patients. METHODS: A retrospective single-institution review of all patients with CGD from 1990 through 2015 was performed. Univariate analysis identified prognostic variables to include in a Cox model...
October 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27458052/severe-glucose-6-phosphate-dehydrogenase-deficiency-leads-to-susceptibility-to-infection-and-absent-netosis
#16
Ulrich Siler, Susana Romao, Emilio Tejera, Oleksandr Pastukhov, Elena Kuzmenko, Rocio G Valencia, Virginia Meda Spaccamela, Bernd H Belohradsky, Oliver Speer, Markus Schmugge, Elisabeth Kohne, Manfred Hoenig, Joachim Freihorst, Ansgar S Schulz, Janine Reichenbach
BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic disorder of red blood cells in human subjects, causing hemolytic anemia linked to impaired nicotinamide adenine dinucleotide phosphate (NADPH) production and imbalanced redox homeostasis in erythrocytes. Because G6PD is expressed by a variety of hematologic and nonhematologic cells, a broader clinical phenotype could be postulated in G6PD-deficient patients. We describe 3 brothers with severe G6PD deficiency and susceptibility to bacterial infection...
July 22, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27378039/pulmonary-sarcoidosis-diagnosis-and-treatment
#17
REVIEW
Eva M Carmona, Sanjay Kalra, Jay H Ryu
Sarcoidosis is a chronic granulomatous disease of unknown cause that is seen worldwide and occurs mainly in patients between the ages of 20 and 60 years. It can be difficult to diagnose because it can mimic many other diseases including lymphoproliferative disorders and granulomatous infections and because there is no specific test for diagnosis, which depends on correlation of clinicoradiologic and histopathologic features. This review will focus on recent discoveries regarding the pathogenesis of sarcoidosis, common clinical presentations, diagnostic evaluation, and indications for treatment...
July 2016: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/27331854/colitis-as-the-sole-initial-presentation-of-chronic-granulomatous-disease-histopathologic-clues-to-diagnosis
#18
Brooke E Rosenbaum, Rivfka Shenoy, Sharon Vuppula, Kristen Thomas, Libia Moy, Aditya Kaul
Chronic granulomatous disease (CGD) is a rare, inherited immunodeficiency disorder that reduces the superoxide generation ability of phagocytes, leading to recurrent infections and granulomatous inflammation. We report the case of a previously healthy 3-year-old boy who presented with classic features of Crohn's disease. Suspicion from histopathological assessment allowed early diagnosis and treatment for CGD before the onset of infections.
June 21, 2016: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/27312164/management-of-chronic-immune-thrombocytopenia-in-children-and-adolescents-lessons-from-an-austrian-national-cross-sectional-study-of-81-patients
#19
J Sipurzynski, B Fahrner, R Kerbl, R Crazzolara, N Jones, G Ebetsberger, B Jauk, V Strenger, B Wohlmuther, W Schwinger, H Lackner, C Urban, W Holter, M Minkov, L Kager, M Benesch, M G Seidel
Chronic immune thrombocytopenia (cITP) is often associated with an underlying predisposition towards autoimmunity, recognition of which is relevant to guide treatment. International recommendations on diagnostic steps and therapeutic measures of cITP in childhood exist. However, due to the low prevalence (1-2/100,000) and a variation of availability of immunological and hematological tests and treatments across pediatric units, we postulated that these guidelines are not uniformly adhered to and that immune dysregulation syndromes remained undiscovered...
April 2016: Seminars in Hematology
https://www.readbyqxmd.com/read/27308089/cerebral-aspergillosis-and-pulmonary-tuberculosis-in-a-child-with-chronic-granulomatous-disease
#20
Muhammed Waqas, Sidra Zafar, Tooba Rehman, Muhammed Riyaz, Muhammed E Bari, Romana Idrees
BACKGROUND: Chronic granulomatous disease (CGD) is an immune disorder that affects phagocytes. It is characterized by recurrent or persistent bacterial and fungal infections. Reports of tuberculosis (TB) in patients with CGD are rare. In developing countries, where TB is endemic, possibility of other chronic infections is often overlooked by physicians. CASE DESCRIPTION: We report the case of a 4-year-old boy who had recurrent respiratory infections and episodes of headache...
2016: Surgical Neurology International
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