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Chronic granulomatous disorder

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https://www.readbyqxmd.com/read/29625716/-ocular-manifestations-in-beh%C3%A3-et-s-disease
#1
A-C Desbois, C Terrada, P Cacoub, B Bodaghi, D Saadoun
Ocular disease in Behçet's disease is frequent and may be associated with a poor functional prognosis. Uveitis is the most common ocular manifestation in Behçet's disease and represents a diagnostic criterion of the disease. The ocular involvement is inaugural of the disease in 20% of the cases or may develop 2 to 3 years after the beginning of the extraocular signs. The risk of blindness at 5 years is in the order of 15 to 25%, mainly due to macular involvement or retinal vasculitis. Uveitis may be anterior, intermediate, posterior or panuveitis...
April 3, 2018: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/29618478/nadph-oxidase-activation-regulates-apoptotic-neutrophil-clearance-by-murine-macrophages
#2
Juhi Bagaitkar, Jing Huang, Melody Yue Zeng, Nancy K Pech, Darlene A Monlish, Lizet J Perez-Zapata, Irina Miralda, Laura G Schuettpelz, Mary C Dinauer
The phagocyte NADPH oxidase generates superoxide, the precursor to reactive oxygen species (ROS) that have both antimicrobial and immunoregulatory functions. Inactivating mutations in NADPH oxidase alleles cause chronic granulomatous disease (CGD), characterized by enhanced susceptibility to life-threatening microbial infections and inflammatory disorders, and hypomorphic NADPH oxidase alleles are associated with autoimmunity. Impaired apoptotic cell (AC) clearance is implicated as an important contributing factor in chronic inflammation and autoimmunity, but the role of NADPH oxidase-derived ROS in this process is incompletely understood...
April 4, 2018: Blood
https://www.readbyqxmd.com/read/29604528/intraabdominal-actinomycosis-resulting-in-a-difficult-to-diagnose-intraperitoneal-mass-a-case-report
#3
Naoto Tsujimura, Hiroyoshi Takemoto, Yujiro Nakahara, Masaki Wakasugi, Takashi Matsumoto, Kiyonori Nishioka, Kou Takachi, Satoshi Oshima, Kyotaro Yoshida
INTRODUCTION: Actinomycosis is a chronic suppurative granulomatous disease caused by Actinomyces israelii. Preoperative confirmed diagnosis is very difficult, so most cases are diagnosed preoperatively as malignant tumors. We report a case of intraabdominal actinomycosis which was difficult to diagnose preoperatively. PRESENTATION OF THE CASE: A woman, 60 years old, experienced discomfort in her lower right abdomen. She complained of nausea and anorexia and visited our hospital...
March 21, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29499925/high-efficiency-gene-correction-in-hematopoietic-cells-by-donor-template-free-crispr-cas9-genome-editing
#4
Duran Sürün, Joachim Schwäble, Ana Tomasovic, Roy Ehling, Stefan Stein, Nina Kurrle, Harald von Melchner, Frank Schnütgen
The CRISPR/Cas9 prokaryotic adaptive immune system and its swift repurposing for genome editing enables modification of any prespecified genomic sequence with unprecedented accuracy and efficiency, including targeted gene repair. We used the CRISPR/Cas9 system for targeted repair of patient-specific point mutations in the Cytochrome b-245 heavy chain gene (CYBB), whose inactivation causes chronic granulomatous disease (XCGD)-a life-threatening immunodeficiency disorder characterized by the inability of neutrophils and macrophages to produce microbicidal reactive oxygen species (ROS)...
March 2, 2018: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/29411231/analysis-of-chronic-granulomatous-disease-in-the-kavkazi-population-in-israel-reveals-phenotypic-heterogeneity-in-patients-with-the-same-ncf1-mutation-c-579g-a
#5
Baruch Wolach, Ronit Gavrieli, Martin de Boer, Karin van Leeuwen, Ofir Wolach, Galia Grisaru-Soen, Arnon Broides, Amos Etzioni, Raz Somech, Dirk Roos
PURPOSE: Chronic granulomatous disease (CGD) is an innate immune deficiency disorder of phagocytes, resulting from mutations in the components of the NADPH oxidase complex that impair the synthesis of oxygen radicals, thus rendering patients susceptible to recurrent infections and excessive hyperinflammatory responses. The most common autosomal recessive form of CGD is p47phox deficiency, which is often clinically milder than the more common X-linked recessive form. Here, we report data on genetics, clinical and biochemical findings in 17 CGD patients of Kavkazi origin with the nonsense mutation c...
February 6, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29410324/impaired-x-cgd-t-cell-compartment-is-gp91phox-nadph-oxidase-independent
#6
Maria Chiriaco, Fabio Casciano, Gigliola Di Matteo, Berhard Gentner, Alessia Claps, Nicola Cotugno, D' Argenio Patrizia, Paolo Rossi, Alessandro Aiuti, Andrea Finocchi
Chronic granulomatous disease (CGD) is a phagocytic disorder characterized by a defective production of reactive oxygen species (ROS). Although infections and granuloma formation are the most common manifestations in CGD patients, a significant number of patients experienced autoimmunity and inflammatory diseases suggesting that adaptive immune abnormalities might be involved. Here we investigated T-cell compartment and showed that CGD patients respect to healthy donor (HD), had a skewed TCRV-beta distribution in CD8+ T cells, particularly in older patients, and a reduced proliferative responses toward mitogens...
February 2, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29388853/identification-of-il2rg-and-cybb-mutations-in-two-chinese-primary-immunodeficiency-patients-by-whole-exome-sequencing
#7
Shanshan Xu, Qiyuan Li, Jinzhun Wu, Guobing Chen, Bizhen Zhu, Weiyue Gu
BACKGROUND: Primary immunodeficiency diseases are a group of genetic disorders that lead to increased propensity to a variety of infections, sometimes with fatal outcomes. METHOD: In this study, whole-exome sequencing (WES) was used to identify mutations in two patients suspected of having primary immunodeficiency. Sanger sequencing was used to confirm the results in the patients and their family. RESULT: One patient was diagnosed as X-linked severe combined immunodeficiency (X-SCID) and another patient as X-linked chronic granulomatous disease (X-CGD) by WES...
February 1, 2018: Immunological Investigations
https://www.readbyqxmd.com/read/29338776/takayasu-arteritis-a-cause-of-hypertensive-disorder-of-pregnancy-a-case-report
#8
Jesus Lumbreras-Marquez, Roberto Arturo Castillo-Reyther, Salvador De-la-Maza-Labastida, Fernando Vazquez-Alaniz
BACKGROUND: Takayasu arteritis is a rare, chronic, granulomatous systemic vasculitis of unknown etiology and a few cases have been reported in pregnancy. In pregnancies concomitant with Takayasu arteritis or after diagnosis, Takayasu arteritis negatively affects pregnancy by increasing 13-fold the odds of complications such as hypertensive disorders. The best recommendations in this scenario are still to be made. CASE PRESENTATION: We present a case of 21-year-old, gravid 1, Mexican woman of Mestizo descent with chronic hypertension diagnosed since she was 15-years old who presented severe hypertension during pregnancy (early second trimester); the diagnosis of hypertensive disorder of pregnancy was ruled out requiring first-line and second-line antihypertensive therapy without serious associated maternal or fetal morbidity...
January 17, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29296942/gene-edited-pseudogene-resurrection-corrects-p47-phox-deficient-chronic-granulomatous-disease
#9
Randall K Merling, Douglas B Kuhns, Colin L Sweeney, Xiaolin Wu, Sandra Burkett, Jessica Chu, Janet Lee, Sherry Koontz, Giovanni Di Pasquale, Sandra A Afione, John A Chiorini, Elizabeth M Kang, Uimook Choi, Suk See De Ravin, Harry L Malech
Pseudogenes are duplicated genes with mutations rendering them nonfunctional. For single-gene disorders with homologous pseudogenes, the pseudogene might be a target for genetic correction. Autosomal-recessive p47phox -deficient chronic granulomatous disease (p47-CGD) is a life-threatening immune deficiency caused by mutations in NCF1 , a gene with 2 pseudogenes, NCF1B and NCF1C . The most common NCF1 mutation, a GT deletion (ΔGT) at the start of exon 2 (>90% of alleles), is constitutive to NCF1B and NCF1C ...
January 10, 2017: Blood Advances
https://www.readbyqxmd.com/read/29204384/approach-to-a-child-with-primary-immunodeficiency-made-simple
#10
REVIEW
Dhrubajyoti Sharma, Ankur K Jindal, Amit Rawat, Surjit Singh
Primary immunodeficiency disorders (PIDs) are a group of disorders affecting the capability to fight against infection. These include defects in T cells and B cells affecting cell-mediated and humoral immunity, respectively, combined humoral and cell-mediated immunodeficiency, defects in phagocytosis, complement defects, and defects in cytokine or cytokine signalling pathways which are detrimental for immune function. Depending upon the type and severity, age at onset of symptoms can vary from neonatal period to late childhood...
November 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/29145578/the-changing-paradigm-of-management-of-liver-abscesses-in-chronic-granulomatous-disease
#11
David M Straughan, Kaitlin C McLoughlin, John E Mullinax, Beatriz E Marciano, Alexandra F Freeman, Victoria L Anderson, Gulbu Uzel, Saїd C Azoury, Rebecca Sorber, Humair S Quadri, Harry L Malech, Suk See DeRavin, Natasha Kamal, Christopher Koh, Christa S Zerbe, Douglas B Kuhns, John I Gallin, Theo Heller, Steven M Holland, Udo Rudloff
Background: Chronic granulomatous disease (CGD) is a rare genetic disorder causing recurrent infections. Over one quarter of patients develop hepatic abscesses and liver dysfunction. Recent reports suggest disease-modifying treatment with corticosteroids is effective for these abscesses. Comparison of corticosteroid therapy to traditional invasive treatments has not been performed. Methods: Records of 268 patients with CGD treated at the National Institutes of Health (NIH) from 1980 to 2014 were reviewed...
November 14, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29102585/laryngeal-sarcoidosis-in-a-child-case-report
#12
Gabriel Vega-Cornejo, Priscila Ayala-Buenrostro
Sarcoidosis is a chronic, multisystemic, granulomatous disorder. Our patient was a 2-year-old girl with multiple airway conditions and a partial response to inhaled and systemic steroids. She was positive for acute phase reactants and negative for antibodies. Polymerase chain reaction revealed atypical Mycobacteria and she was negative for Mycobacterium tuberculosis. Laryngeal sarcoidosis was diagnosed by histopathology in a biopsy of larynx that revealed a chronic granulomatous inflammatory process with Langhans giant cells and acute and ulcerated areas with changes compatible with tuberculosis...
November 1, 2017: Reumatología Clinica
https://www.readbyqxmd.com/read/29097349/spectrum-of-imaging-findings-of-chronic-granulomatous-disease-a-single-center-experience
#13
Minah Lee, Mu Sook Lee, Jeong Sub Lee, Su Yeon Ko, Sun Young Jeong
The purpose of this pictorial essay is to present and summarize findings of various images of chronic granulomatous disease (CGD). CGD represents a heterogeneous group of disorders caused by defective generation of respiratory bursts in human phagocytes. This defect results in abnormal phagocytic functions and defective killing of bacteria by phagocytes. CGD may involve many organs and present with recurrent infections and inflammations. Radiologists should consider the possibility of CGD when a patient presents with atypical and recurrent infection...
November 2017: Diagnostic and Interventional Radiology: Official Journal of the Turkish Society of Radiology
https://www.readbyqxmd.com/read/29063637/phenotypic-prenatal-diagnosis-of-chronic-granulomatous-disease-a-useful-tool-in-the-absence-of-molecular-diagnosis
#14
M Kulkarni, M Gupta, M Madkaikar
Chronic granulomatous disease (CGD) is an inherited immunodeficiency disorder affecting the microbicidal function of the phagocytes. It is characterized by susceptibility to recurrent infections leading to significant morbidity and mortality. Antibacterial and antifungal prophylaxis, though, has significantly reduced the rate and severity of the infections; the breakthrough infections still remain a challenge. Currently, allogenic haematopoietic stem cell transplantation is the only curative option which is very expensive and unavailable for many due to lack of suitable donor...
December 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28970295/infectious-and-non-infectious-complications-in-primary-immunodeficiency-disorders-an-autopsy-study-from-north-india
#15
Kirti Gupta, Amit Rawat, Parimal Agrawal, Ankur Jindal, Ritambhra Nada, Biman Saikia, Koon Wing Chan, Yu Lung Lau, Ranjana Walker Minz, Surjit Singh
BACKGROUND: Primary immunodeficiency disorders (PID) include a wide spectrum of inherited disorders characterised by functional abnormalities of one or more components of the immune system. Recent updates from the genomic data have contributed significantly to its better understanding with identification of new entities. Diagnosis is always challenging due to their variable clinical presentation. With the evolution of molecular diagnosis, many of these children are being diagnosed early and offered appropriate therapy...
September 28, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28955342/mass-cytometry-identifies-distinct-lung-cd4-t-cell-patterns-in-l%C3%A3-fgren-s-syndrome-and-non-l%C3%A3-fgren-s-syndrome-sarcoidosis
#16
Ylva Kaiser, Tadepally Lakshmikanth, Yang Chen, Jaromir Mikes, Anders Eklund, Petter Brodin, Adnane Achour, Johan Grunewald
Sarcoidosis is a granulomatous disorder of unknown etiology, characterized by accumulation of activated CD4(+) T cells in the lungs. Disease phenotypes Löfgren's syndrome (LS) and "non-LS" differ in terms of clinical manifestations, genetic background, HLA association, and prognosis, but the underlying inflammatory mechanisms largely remain unknown. Bronchoalveolar lavage fluid cells from four HLA-DRB1*03(+) LS and four HLA-DRB1*03(-) non-LS patients were analyzed by mass cytometry, using a panel of 33 unique markers...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28941269/tuberculoid-leprosy-masquerading-as-systemic-lupus-erythematosus-an-interesting-observation
#17
Vijay Zawar, Shrikant Kumavat, Manoj Pawar, Dipti Desai
Leprosy is a chronic granulomatous infectious multisystem disease that may present with protean manifestations. It mimics many systemic and dermatological disorders. Here we report a case in which an elderly female presented with malar rash, intermittent fever, and arthralgia. Her diagnosis was significantly delayed due to a close clinical resemblance to systemic lupus erythematosus. It is important to be aware of such manifestations of leprosy and improve awareness of it in clinicians to avoid misdiagnosis and delay in treatment...
September 2017: Acta Dermatovenerologica Alpina, Panonica, et Adriatica
https://www.readbyqxmd.com/read/28914984/hypercalcemic-disorders-in-children
#18
REVIEW
Victoria J Stokes, Morten F Nielsen, Fadil M Hannan, Rajesh V Thakker
Hypercalcemia is defined as a serum calcium concentration that is greater than two standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive, and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms...
November 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28895850/gene-therapy-approaches-to-immunodeficiency
#19
REVIEW
Sujal Ghosh, H Bobby Gaspar
Transfer of gene-corrected autologous hematopoietic stem cells in patients with primary immunodeficiencies has emerged as a new therapeutic approach. Patients with various conditions lacking a suitable donor have been treated with retroviral vectors and a gene-addition strategy. Initial promising results were shadowed by the occurrence of malignancies in some of these patients. Current trials, developed in the last decade, use safer viral vectors to overcome the risk of genotoxicity and have led to improved clinical outcomes...
October 2017: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/28871936/xanthoma-like-skin-changes-in-an-elderly-woman-with-a-normal-lipid-profile
#20
Piotr Nockowski, Zdzisław Woźniak, Adam Reich, Joanna Maj
Dear Editor, An 83-year-old woman developed yellow-brownish infiltrates, nodules, and tumors mimicking xanthomas, mostly involving the periorbital and chest area within three months (Figure 1). She had no abnormalities in serum cholesterol or triglycerides levels. A detailed laboratory analysis revealed the presence of mild monoclonal gammopathy with a presence of immunoglobulin G (IgG) kappa light chains; however, according to hematologist consultation, it did not require medical intervention. Imaging assessment and ultrasound examination did not show any specific involvement of internal organs...
July 2017: Acta Dermatovenerologica Croatica: ADC
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