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Primary Immunodeficiency

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https://www.readbyqxmd.com/read/28816794/x-linked-lymphoproliferative-disease-type-1-in-a-patient-with-the-p-gly93asp-sh2d1a-gene-mutation-and-hemophagocytic-lymphohistiocytosis
#1
Raquel de la Varga-Martínez, Francisco Mora-López, Daniel García-Cuesta, M Paz Garrastazul-Sánchez, Sebastián Quintero, Carmen Rodríguez, Almudena Sampalo
Hemophagocytic lymphohistiocytosis is characterized by uncontrolled activation of the immune system that leads to systemic hyperinflammation. Lymphoproliferative syndrome linked to the X chromosome is a hereditary immunodeficiency characterized by an inability to mount an adequate immune response to an Epstein-Barr virus infection. Hemophagocytic lymphohistiocytosis is one of the main clinical features of X-linked lymphoproliferative syndrome. We report the case of a patient who presented with primary hemophagocytic lymphohistiocytosis associated with Epstein-Barr virus infection without a familial history of immunodeficiency...
August 14, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28815025/oesophageal-candidiasis-and-squamous-cell-cancer-in-patients-with-gain-of-function-stat1-gene-mutation
#2
Sara Koo, Deepak Kejariwal, Tariq Al-Shehri, Anjan Dhar, Desa Lilic
BACKGROUND: Oesophageal candidiasis is a common, usually self-limiting opportunistic infection, but long-term infection with Candida is known to predispose to oral and oesophageal squamous cell cancer (SCC). Permissive factors that lead to immune deficiencies can underlie persistent or recurring candidiasis, called chronic mucocutaneous candidiasis (CMC). Secondary immune deficiencies are most often due to human immunodeficiency virus (HIV) infection, antibiotic use and immunosuppressive treatment (steroids, chemotherapy)...
August 2017: United European Gastroenterology Journal
https://www.readbyqxmd.com/read/28813430/reprogramming-human-gallbladder-cells-into-insulin-producing-%C3%AE-like-cells
#3
Feorillo Galivo, Eric Benedetti, Yuhan Wang, Carl Pelz, Jonathan Schug, Klaus H Kaestner, Markus Grompe
The gallbladder and cystic duct (GBCs) are parts of the extrahepatic biliary tree and share a common developmental origin with the ventral pancreas. Here, we report on the very first genetic reprogramming of patient-derived human GBCs to β-like cells for potential autologous cell replacement therapy for type 1 diabetes. We developed a robust method for large-scale expansion of human GBCs ex vivo. GBCs were reprogrammed into insulin-producing pancreatic β-like cells by a combined adenoviral-mediated expression of hallmark pancreatic endocrine transcription factors PDX1, MAFA, NEUROG3, and PAX6 and differentiation culture in vitro...
2017: PloS One
https://www.readbyqxmd.com/read/28812250/miv-150-and-zinc-acetate-combination-provides-potent-and-broad-activity-against-hiv-1
#4
Olga Mizenina, Mayla Hsu, Ninochka Jean-Pierre, Meropi Aravantinou, Keith Levendosky, Gabriela Paglini, Thomas M Zydowsky, Melissa Robbiani, José A Fernández-Romero
We previously showed that the combination of the non-nucleoside reverse transcriptase inhibitor (NNRTI) MIV-150 with zinc acetate (ZA) formulated in a carrageenan (CG; MZC) gel provided macaques significant protection against vaginal simian-human immunodeficiency virus-RT (SHIV-RT) challenge, better than either MIV-150/CG or ZA/CG. The MZC gel was shown to be safe in a phase 1 clinical trial. Herein, we used in vitro approaches to study the antiviral properties of ZA and the MIV-150/ZA combination, compared to other NNRTIs...
August 15, 2017: Drug Delivery and Translational Research
https://www.readbyqxmd.com/read/28811974/ex-vivo-assessment-of-drug-response-on-breast-cancer-primary-tissue-with-preserved-microenvironments
#5
Manuele G Muraro, Simone Muenst, Valentina Mele, Luca Quagliata, Giandomenica Iezzi, Alexandar Tzankov, Walter P Weber, Giulio C Spagnoli, Savas D Soysal
Interaction between cancerous, non-transformed cells, and non-cellular components within the tumor microenvironment plays a key role in response to treatment. However, short-term culture or xenotransplantation of cancer specimens in immunodeficient animals results in dramatic modifications of the tumor microenvironment, thus preventing reliable assessment of compounds or biologicals of potential therapeutic relevance. We used a perfusion-based bioreactor developed for tissue engineering purposes to successfully maintain the tumor microenvironment of freshly excised breast cancer tissue obtained from 27 breast cancer patients and used this platform to test the therapeutic effect of antiestrogens as well as checkpoint-inhibitors on the cancer cells...
2017: Oncoimmunology
https://www.readbyqxmd.com/read/28811575/biological-and-functional-characterization-of-bone-marrow-derived-mesenchymal-stromal-cells-from-patients-affected-by-primary-immunodeficiency
#6
Nadia Starc, Daniela Ingo, Antonella Conforti, Valeria Rossella, Luigi Tomao, Angela Pitisci, Fabiola De Mattia, Immacolata Brigida, Mattia Algeri, Mauro Montanari, Giuseppe Palumbo, Pietro Merli, Paolo Rossi, Alessandro Aiuti, Franco Locatelli, Maria Ester Bernardo
Mesenchymal stromal cells (MSCs) represent a key component of bone marrow (BM) microenvironment and display immune-regulatory properties. We performed a detailed analysis of biological/functional properties of BM-MSCs derived from 33 pediatric patients affected by primary immune-deficiencies (PID-MSCs): 7 Chronic Granulomatous Disease (CGD), 15 Wiskott-Aldrich Syndrome (WAS), 11 Severe Combined Immunodeficiency (SCID). Results were compared with MSCs from 15 age-matched pediatric healthy-donors (HD-MSCs). Clonogenic and proliferative capacity, differentiation ability, immunophenotype, immunomodulatory properties were analyzed...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28809154/interaction-between-herpesvirus-entry-mediator-and-hsv-2-glycoproteins-mediates-hiv-1-entry-of-hsv-2-infected-epithelial-cells
#7
Kai Hu, Siyi He, Juhua Xiao, Mei Li, Sukun Luo, Mudan Zhang, Qinxue Hu
Herpes simplex virus type 2 (HSV-2) increases human immunodeficiency virus type 1 (HIV-1) acquisition and transmission via unclear mechanisms. Herpesvirus entry mediator (HVEM), an HSV-2 entry receptor, is highly expressed on HIV-1 target cells (CD4+ T cells) and may be incorporated into HIV-1 virions, while HSV-2 glycoproteins can be present on the infected cell surface. Since HVEM-gD interaction together with gB/gH/gL is essential for HSV-2 entry, HVEM-bearing HIV-1 (HIV-1/HVEM) may enter HSV-2-infected cells through such interactions...
August 15, 2017: Journal of General Virology
https://www.readbyqxmd.com/read/28806273/the-changing-landscape-of-gene-editing-in-hematopoietic-stem-cells-a-step-towards-cas9-clinical-translation
#8
Daniel P Dever, Matthew H Porteus
PURPOSE OF REVIEW: Since the discovery two decades ago that programmable endonucleases can be engineered to modify human cells at single nucleotide resolution, the concept of genome editing was born. Now these technologies are being applied to therapeutically relevant cell types, including hematopoietic stem cells (HSC), which possess the power to repopulate an entire blood and immune system. The purpose of this review is to discuss the changing landscape of genome editing in hematopoietic stem cells (GE-HSC) from the discovery stage to the preclinical stage, with the imminent goal of clinical translation for the treatment of serious genetic diseases of the blood and immune system...
August 12, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28806251/pet-ct-in-an-8-year-old-girl-with-epstein-barr-virus-associated-smooth-muscle-tumor
#9
Ishan Garg, Maria J Baladron Zanetti, Saba Yasir, Ajit H Goenka, Ayse T Kendi
Epstein-Barr virus-associated smooth muscle tumor is a rare indolent neoplasm, which can occur in unusual locations. It has been reported in immunosuppressed individuals in only 3 settings: posttransplant, human immunodeficiency virus infection, and primary immunodeficiency. Here, we present CT, MRI, and F-FDG PET/CT findings of Epstein-Barr virus-associated smooth muscle tumor in an 8-year-old girl with primary immunodeficiency and metachronous adrenal involvement.This is an open access article distributed under the Creative Commons Attribution License 4...
August 12, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28805315/a-comparison-of-clinical-and-immunologic-phenotypes-in-familial-and-sporadic-forms-of-common-variable-immunodeficiency
#10
Amir Valizadeh, Reza Yazdani, Gholamreza Azizi, Hassan Abolhassani, Asghar Aghamohammadi
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency disease and its prevalence varies significantly among different population. Minority of CVID patients present a familial aggregation suggesting a higher probability of heritable genetic defects. A total of 235 registered CVID patients were evaluated in this cohort study. Familial and sporadic patients were stratified and demographic information, clinical records, laboratory and molecular data were compared among these two groups of patients...
August 11, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28804486/first-association-of-interleukin-12-receptor-beta-1-deficiency-with-sj%C3%A3-gren-s-syndrome
#11
Georgios Sogkas, Faranaz Atschekzei, Vivien Schacht, Christian von Falck, Alexandra Jablonka, Roland Jacobs, Matthias Stoll, Torsten Witte, Reinhold E Schmidt
INTRODUCTION: Interleukin 12 receptor beta 1 (IL12Rβ1) deficiency is a primary immunodeficiency resulting mainly in susceptibility to opportunistic infection by non-tuberculous, environmental mycobacteria and severe infection caused by Salmonella spp. Till now, less than 300 patients with IL12Rβ1 deficiency have been reported. Among them, only three have been described to develop autoimmunity. CASE PRESENTATION: We present the case of a 50-year-old male with IL12Rβ1 deficiency due to compound heterozygosity [c...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28803389/gastrointestinal-manifestations-of-stat3-deficient-hyper-ige-syndrome
#12
Manish Arora, Preet Bagi, Anna Strongin, Jennifer Heimall, Xiongce Zhao, Monica G Lawrence, Apurva Trivedi, Carolyn Henderson, Amy Hsu, Martha Quezado, David E Kleiner, Aradhana M Venkatesan, Steven M Holland, Alexandra F Freeman, Theo Heller
OBJECTIVE: STAT 3 deficiency (autosomal dominant hyper immunoglobulin E syndrome (AD-HIES)) is a primary immunodeficiency disorder with multi-organ involvement caused by dominant negative signal transducer and activator of transcription gene 3 (STAT3) mutations. We sought to describe the gastrointestinal (GI) manifestations of this disease. METHODS: Seventy subjects aged five to 60 years with a molecular diagnosis of AD-HIES were evaluated at the National Institutes of Health (NIH)...
August 13, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28797489/approach-to-fungal-infections-in-human-immunodeficiency-virus-infected-individuals-pneumocystis-and-beyond
#13
REVIEW
Richard J Wang, Robert F Miller, Laurence Huang
Many fungi cause pulmonary disease in patients with human immunodeficiency virus (HIV) infection. Pathogens include Pneumocystis jirovecii, Cryptococcus neoformans, Aspergillus spp, Histoplasma capsulatum, Coccidioides spp, Blastomyces dermatitidis, Paracoccidioides brasiliensis, Talaromyces marneffei, and Emmonsia spp. Because symptoms are frequently nonspecific, a high index of suspicion for fungal infection is required for diagnosis. Clinical manifestations of fungal infection in HIV-infected patients frequently depend on the degree of immunosuppression and the CD4(+) helper T cell count...
September 2017: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/28797307/using-smartphones-to-decrease-substance-use-via-self-monitoring-and-recovery-support-study-protocol-for-a-randomized-control-trial
#14
Christy K Scott, Michael L Dennis, David H Gustafson
BACKGROUND: Alcohol abuse, other substance use disorders, and risk behaviors associated with the human immunodeficiency virus (HIV) represent three of the top 10 modifiable causes of mortality in the US. Despite evidence that continuing care is effective in sustaining recovery from substance use disorders and associated behaviors, patients rarely receive it. Smartphone applications (apps) have been effective in delivering continuing care to patients almost anywhere and anytime. This study tests the effectiveness of two components of such apps: ongoing self-monitoring through Ecological Momentary Assessments (EMAs) and immediate recovery support through Ecological Momentary Interventions (EMIs)...
August 10, 2017: Trials
https://www.readbyqxmd.com/read/28796679/delivery-after-40-weeks-of-gestation-in-pregnant-women-with-well-controlled-human-immunodeficiency-virus
#15
Rachel K Scott, Nahida Chakhtoura, Margaret M Burke, Rachel A Cohen, Regis Kreitchmann
OBJECTIVE: To evaluate whether there is increased mother-to-child transmission of human immunodeficiency virus (HIV)-1 associated with deliveries at 40 weeks of estimated gestational age (EGA) or greater in pregnant women with HIV-1 viral loads of 1,000 copies/mL or less. METHODS: We performed a secondary analysis of the Eunice Kennedy Shriver National Institute of Child Health and Human Development International Site Development Initiative Perinatal and Longitudinal Study in Latin American Countries and International Maternal Pediatric Adolescent AIDS Clinical Trials P1025 cohorts...
August 4, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28794125/unexplained-abnormal-liver-function-in-patients-with-primary-antibody-deficiency-could-it-be-chronic-hepatitis-e-infection
#16
Omar E Mohamed, Julie Jones, Husam Osman, Aarnoud P Huissoon
Data from recent studies suggest rising incidence rate of hepatitis E virus (HEV) infection in the UK. HEV infection may take a severe and persistent course in immunocompromised patients, including transplant recipients on immunosuppressives, patients with HIV, haematological malignancies and in idiopathic CD4(+) T lymphocytopenia. The prevalence of HEV in primary antibody deficiency (PAD) disorders is still unknown. The aim of this study was to investigate HEV infection in 27 patients with PAD with unexplained, persistently elevated liver enzymes...
August 9, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28791687/skin-signs-of-primary-immunodeficiencies-how-to-find-the-genes-to-check
#17
REVIEW
M Ettinger, J Schreml, K Wirsching, M Berneburg, S Schreml
Primary immunodeficiencies (PIDs) are a heterogeneous group of rare diseases that result from defects in immune system development and/or function. The clinical manifestations of PIDs are highly variable, but most disorders involve at least an increased susceptibility to infection. Furthermore, cutaneous manifestations are very common in PIDs. As an easy accessible organ, skin canbecrucial for early diagnosis and treatment. This is relevant for preventing significant disease-associated morbidity and mortality...
August 9, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28791010/uses-of-next-generation-sequencing-technologies-for-the-diagnosis-of-primary-immunodeficiencies
#18
REVIEW
Michael Seleman, Rodrigo Hoyos-Bachiloglu, Raif S Geha, Janet Chou
Primary immunodeficiencies (PIDs) are genetic disorders impairing host immunity, leading to life-threatening infections, autoimmunity, and/or malignancies. Genomic technologies have been critical for expediting the discovery of novel genetic defects underlying PIDs, expanding our knowledge of the complex clinical phenotypes associated with PIDs, and in shifting paradigms of PID pathogenesis. Once considered Mendelian, monogenic, and completely penetrant disorders, genomic studies have redefined PIDs as a heterogeneous group of diseases found in the global population that may arise through multigenic defects, non-germline transmission, and with variable penetrance...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28791007/prospective-study-of-a-cohort-of-russian-nijmegen-breakage-syndrome-patients-demonstrating-predictive-value-of-low-kappa-deleting-recombination-excision-circle-krec-numbers-and-beneficial-effect-of-hematopoietic-stem-cell-transplantation-hsct
#19
Elena Deripapa, Dmitry Balashov, Yulia Rodina, Alexandra Laberko, Natalya Myakova, Nataliia V Davydova, Maria A Gordukova, Dmitrii S Abramov, Galina V Pay, Larisa Shelikhova, Andrey P Prodeus, Mikhail A Maschan, Alexey A Maschan, Anna Shcherbina
BACKGROUND: Nijmegen breakage syndrome (NBS) is a combined primary immunodeficiency with DNA repair defect, microcephaly, and other phenotypical features. It predominantly occurs in Slavic populations that have a high frequency of carriers with the causative NBN gene c.657_661del5 mutation. Due to the rarity of the disease in the rest of the world, studies of NBS patients are few. Here, we report a prospective study of a cohort of Russian NBS patients. METHODS: 35 Russian NBS patients of ages 1-19 years, referred to our Center between years 2012 and 2016, were prospectively studied...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28790175/antibody-mediated-blockade-of-jmjd6-interaction-with-collagen-i-exerts-antifibrotic-and-antimetastatic-activities
#20
Silvia Miotti, Alessandro Gulino, Renata Ferri, Mariella Parenza, Agnieszka Chronowska, Daniele Lecis, Sabina Sangaletti, Elda Tagliabue, Claudio Tripodo, Mario P Colombo
JMJD6 is known to localize in the nucleus exerting histone arginine demethylase and lysyl hydroxylase activities. A novel localization of JMJD6 in the extracellular matrix, resulting from its secretion as a soluble protein, was unveiled by a new anti-JMJD6 mAb called P4E11 which was developed to identify new targets in the stroma. Recombinant JMJD6 binds with collagen type I (Coll-I), and distinct JMJD6 peptides interfere with collagen fibrillogenesis, collagen-fibronectin interaction, and adhesion of human tumor cells to the collagen substrate...
August 8, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
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