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Chronic granulomatous disorder

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https://www.readbyqxmd.com/read/28329526/chronic-granulomatous-disease-as-a-risk-factor-for-cutaneous-lupus-in-childhood
#1
Sandrina Carvalho, Susana Machado, Rita Sampaio, Margarida Guedes, Júlia Vasconcelos, Diogo Semedo, Manuela Selores
Chronic granulomatous disease (CGD) is a primaryimmunodeficiency disorder that affects the phagocyticcells of the innate immune system. It is characterizedby recurrent or persistent infections with granulomaformation. Lupus-like lesions have been reported incarriers of CGD and less frequently, in patients withCGD. Immunological study in these patients areusually negative. We describe the case of an 8-yearoldboy with CGD who developed chronic and acutecutaneous lupus erythematous with angular cheilitis,oral ulcers, Raynaud phenomenon, and positiveserologies for antinuclear, anticentromere, and anti-Saccharomyces cerevisiae antibodies...
March 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28326206/chronic-hepatitis-with-liver-granulomas-in-a-patient-with-granuloma-annulare-a-case-report-and-review-of-the-literature
#2
Majid Alsahafi, Mohammed I AlJasser, Sunil Kalia, H M Yang, Alnoor Ramji
Granuloma annulare (GA) is a benign granulomatous skin disorder of unknown etiology. GA is rarely associated with liver diseases. We report a unique case of chronic hepatitis with liver granulomas in a patient with GA. Despite an extensive workup, no clear etiology for the hepatitis was found. Based on the possible immune pathophysiology of GA and the presence of liver granulomas, the patient was treated with prednisone and azathioprine which resulted in complete normalization of the liver enzymes and concurrent improvement of GA...
2017: Case Reports in Gastrointestinal Medicine
https://www.readbyqxmd.com/read/28294378/cutaneous-crohn-disease-with-superimposed-psoriasis-a-unique-case-with-overlapping-histology
#3
Ben J Friedman, Bahar Dasgeb, Jason B Lee
Crohn disease is an idiopathic, chronic inflammatory disorder of the gastrointestinal tract. We recently encountered a unique case in which a patient with longstanding Crohn disease presented with skin lesions with histopathologic features of both psoriasis and granulomatous inflammation suggestive of cutaneous Crohn disease. To our knowledge, this has not been described concomitantly in the same patient, in the same lesions. Review of the literature suggests that the intersection of these two histopathological reaction patterns may not be pure coincidence...
March 14, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28288231/-primary-immunodeficiencies-in-seriously-ill-children-report-of-3-clinical-cases
#4
Leticia Yáñez, Pamela Lama, Carolina Rivacoba, Juanita Zamorano, María 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. The first patient, a 4-month-old infant affected by a severe pneumonia, and was diagnosed as a Severe Combined Immunodeficiency Disease...
February 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28274361/pharmacologic-treatments-for-rosacea
#5
Alison M Layton
Rosacea represents a common and chronic inflammatory skin disorder. Clinical features include transient and permanent erythema, inflammatory papules and pustules, phymatous changes, and ocular signs and symptoms. Rosacea is generally classified into four subtypes and one variant. Subtype 1, erythematotelangiectatic rosacea, includes clinical features of flushing and persistent central facial erythema with or without telangiectasia. Subtype 2, papulopustular rosacea, is characterized by persistent central facial erythema with transient papules or pustules or both on the central face...
March 2017: Clinics in Dermatology
https://www.readbyqxmd.com/read/28264583/crispr-mediated-knockout-of-i-cybb-i-in-nsg-mice-establishes-a-model-of-chronic-granulomatous-disease-for-human-stem-cell-gene-therapy-transplants
#6
Colin L Sweeney, Uimook Choi, Chengyu Liu, Sherry M Koontz, Seung-Kwon Ha, Harry L Malech
Chronic granulomatous disease (CGD) is characterized by defects in production of microbicidal reactive oxygen species (ROS) by phagocytes. Testing of gene and cell therapies for treatment of CGD in human hematopoietic cells requires pre-clinical transplant models. The use of the lymphocyte-deficient NOD.Cg-Prkdc<sup>scid</sup> Il2rg<sup>tm1Wjl</sup>/SzJ (NSG) mouse strain for human hematopoietic cell xenografts to test CGD therapies is complicated by the presence of functional mouse granulocytes capable of producing ROS for subsequent bacterial and fungal killing...
March 6, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28217469/clinicopathological-diagnosis-of-orofacial-granulomatosis
#7
Fatma Sule Afsar, Hatice Demirlendi Duran, Gungor Yilmaz, Murat Ermete
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...
January 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28210775/risk-of-fragility-fracture-among-patients-with-sarcoidosis-a-population-based-study-1976-2013
#8
P Ungprasert, C S Crowson, E L Matteson
Incidence of fragility fracture of a population-based cohort of 345 patients with sarcoidosis was compared with age and sex-matched comparators. The incidence of fragility fracture was higher among patients with sarcoidosis with hazard ratio (HR) of 2.18. INTRODUCTION: Several chronic inflammatory disorders increase the risk of fragility fracture. However, little is known about the risk of fragility fracture in patients with sarcoidosis. METHODS: This study was conducted using a previously identified population-based cohort of 345 patients with incident sarcoidosis from Olmsted County, Minnesota...
February 16, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28196424/pyogenic-granuloma-in-the-jejunum-successfully-removed-by-single-balloon-enteroscopy
#9
Cristina Romero Mascarell, Juan Carlos García Pagán, Isis Karina Araujo, Josep Llach, Begoña González-Suárez
Pyogenic granuloma is a non-infectious and non-granulomatous lesion. Its location in the small bowel is very rare. We present a 46 year-old woman with a chronic liver disorder that had a severe chronic anemia with occult blood losses. Upper endoscopy and colonoscopy were normal. A small bowel capsule endoscopy showed a pyogenic granuloma in jejunum that was resected endoscopically with single balloon enteroscopy with no major complications. The patient recovered from anemia and six months latter capsule endoscopy did not show lesions...
February 15, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28095323/pattern-recognitions-receptors-in-immunodeficiency-disorders
#10
Esameil Mortaz, Ian M Adcock, Payam Tabarsi, Ilad Alavi Darazam, Masoud Movassaghi, Johan Garssen, Hamidreza Jamaati, Aliakbar Velayati
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). Several classes of pattern recognition receptors (PRRs) are involved in the pathogenesis of diseases, including Toll-like receptors (TLRs), C-type lectin receptors (CLRs), and Nod-like receptors (NLRs)...
January 14, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28077679/crispr-cas9-gene-repair-of-hematopoietic-stem-cells-from-patients-with-x-linked-chronic-granulomatous-disease
#11
Suk See De Ravin, Linhong Li, Xiaolin Wu, Uimook Choi, Cornell Allen, Sherry Koontz, Janet Lee, Narda Theobald-Whiting, Jessica Chu, Mary Garofalo, Colin Sweeney, Lela Kardava, Susan Moir, Angelia Viley, Pachai Natarajan, Ling Su, Douglas Kuhns, Kol A Zarember, Madhusudan V Peshwa, Harry L Malech
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...
January 11, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/27966195/beyond-bronchitis-a-review-of-the-congenital-and-acquired-abnormalities-of-the-bronchus
#12
REVIEW
Thomas Marini, Susan K Hobbs, Abhishek Chaturvedi, Kathrine Kaproth-Joslin
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. Acquired pathology affecting the bronchi can typically be divided into three broad categories of bronchial disease: bronchial wall thickening, dilatation/bronchiectasis, and obstruction/stenosis...
February 2017: Insights Into Imaging
https://www.readbyqxmd.com/read/27917630/a-novel-cybb-mutation-in-chronic-granulomatous-disease-in-iran
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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