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Primary immunodeficience

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https://www.readbyqxmd.com/read/28747913/family-history-of-early-infant-death-correlates-with-earlier-age-at-diagnosis-but-not-shorter-time-to-diagnosis-for-severe-combined-immunodeficiency
#1
Anderson Dik Wai Luk, Pamela P Lee, Huawei Mao, Koon-Wing Chan, Xiang Yuan Chen, Tong-Xin Chen, Jian Xin He, Nadia Kechout, Deepti Suri, Yin Bo Tao, Yong Bin Xu, Li Ping Jiang, Woei Kang Liew, Orathai Jirapongsananuruk, Tassalapa Daengsuwan, Anju Gupta, Surjit Singh, Amit Rawat, Amir Hamzah Abdul Latiff, Anselm Chi Wai Lee, Lynette P Shek, Thi Van Anh Nguyen, Tek Jee Chin, Yin Hsiu Chien, Zarina Abdul Latiff, Thi Minh Huong Le, Nguyen Ngoc Quynh Le, Bee Wah Lee, Qiang Li, Dinesh Raj, Mohamed-Ridha Barbouche, Meow-Keong Thong, Maria Carmen D Ang, Xiao Chuan Wang, Chen Guang Xu, Hai Guo Yu, Hsin-Hui Yu, Tsz Leung Lee, Felix Yat Sun Yau, Wilfred Hing-Sang Wong, Wenwei Tu, Wangling Yang, Patrick Chun Yin Chong, Marco Hok Kung Ho, Yu Lung Lau
BACKGROUND: Severe combined immunodeficiency (SCID) is fatal unless treated with hematopoietic stem cell transplant. Delay in diagnosis is common without newborn screening. Family history of infant death due to infection or known SCID (FH) has been associated with earlier diagnosis. OBJECTIVE: The aim of this study was to identify the clinical features that affect age at diagnosis (AD) and time to the diagnosis of SCID. METHODS: From 2005 to 2016, 147 SCID patients were referred to the Asian Primary Immunodeficiency Network...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28744922/ifn-%C3%AE-r1-defects-mutation-update-and-description-of-the-ifngr1-variation-database
#2
Esther van de Vosse, Jaap T van Dissel
IFN-γ signaling is essential for the innate immune defense against mycobacterial infections. IFN-γ signals through the IFN-γ receptor which consists of a tetramer of two IFN-γR1 chains in complex with two IFN-γR2 chains, where IFN-γR1 is the ligand-binding chain of the interferon-γ receptor and IFN-γR2 is the signal-transducing chain of the IFN-γ receptor. Germline mutations in the gene IFNGR1 encoding the IFN-γR1 cause a primary immunodeficiency that mainly leads to mycobacterial infections. Here, we review the molecular basis of this immunodeficiency in the 130 individuals described to date, and report mutations in 5 new individuals, bringing the total number to 135 individuals from 98 kindreds...
July 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28744107/a-cohort-of-french-pediatric-patients-with-primary-immunodeficiencies-are-patient-preferences-regarding-replacement-immunotherapy-fulfilled-in-real-life-conditions
#3
Marlène Pasquet, Isabelle Pellier, Nathalie Aladjidi, Anne Auvrignon, Patrick Cherin, Pierre Clerson, Gregoire Jacques Noël Cozon, Roland Jaussaud, Boris Bienvenu, Cyrille Hoarau
OBJECTIVE: To assess quality of life and satisfaction regarding immunoglobulin-replacement therapy (IgRT) treatment according to the route (intravenous Ig [IVIg] or subcutaneous Ig [SCIg]) and place of administration (home-based IgRT or hospital-based IgRT). SUBJECTS AND METHODS: Children 5-15 years old treated for primary immunodeficiency disease (PIDD) with IgRT for ≥3 months were included in a prospective, noninterventional cohort study and followed over 12 months...
2017: Patient Preference and Adherence
https://www.readbyqxmd.com/read/28743717/analysis-of-the-recovery-of-cd247-expression-in-a-pid-patient-insights-into-the-spontaneous-repair-of-defective-genes
#4
Alfonso Blázquez-Moreno, Adriana Pérez-Portilla, Miriam Agúndez-Llaca, Daniela Dukovska, Mar Valés-Gómez, Cigdem Aydogmus, Aydan Ikinciogullari, José R Regueiro, Hugh T Reyburn
Mutations in T-cell antigen receptor (TCR) subunits genes cause rare immunodeficiency diseases characterized by impaired expression of the TCR at the cell surface and selective T lymphopenia. Here detailed analyses of spontaneously arising somatic mutations that recover CD247, and so TCR expression, in a newly identified CD247 deficient patient are described. The recovery of CD247 expression in some patient T cells was associated with both reversion of the inactivating mutation and a variant with a compensating mutation that could reconstitute TCR expression, but not as efficiently as wild-type CD247...
July 25, 2017: Blood
https://www.readbyqxmd.com/read/28741180/loss-of-nhej1-protein-due-to-a-novel-splice-site-mutation-in-a-family-presenting-with-combined-immunodeficiency-microcephaly-and-growth-retardation-and-literature-review
#5
Farrukh Sheikh, Abbas Hawwari, Safa Alhissi, Sulaiman Al Gazlan, Hasan Al Dhekri, Agha M Rehan Khaliq, Esteban Borrero, Lina El-Baik, Rand Arnaout, Hamoud Al-Mousa, Anas M Alazami
INTRODUCTION: Non-homologous end joining gene 1 (NHEJ1) defect is a rare form of primary immune deficiency. Very few cases have been described from around the world. PURPOSE: We are reporting the first family from the Arabian Gulf with three siblings presenting with combined immunodeficiency (CID), microcephaly, and growth retardation due to a novel NHEJ1 splice site mutation, in addition to a review of the previously published literature on this subject. METHODS: Patients' clinical, immunological, and laboratory features were examined...
July 24, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28735808/autoimmunity-and-its-association-with-regulatory-t-cells-and-b-cell-subsets-in-patients-with-common-variable-immunodeficiency
#6
G Azizi, H Abolhassani, F Kiaee, N Tavakolinia, H Rafiemanesh, R Yazdani, S A Mahdaviani, S Mohammadikhajehdehi, M Tavakol, V Ziaee, B Negahdari, J Mohammadi, A Mirshafiey, A Aghamohammadi
BACKGROUND: Common variable immunodeficiency (CVID) is one of the most prevalent symptomatic primary immunodeficiencies (PIDs), which manifests a wide clinical variability such as autoimmunity, as well as T cell and B cell abnormalities. METHODS: A total of 72 patients with CVID were enrolled in this study. Patients were evaluated for clinical manifestations and classified according to the presence or absence of autoimmune disease. We measured regulatory T cells (Tregs) and B-cell subsets using flow cytometry, as well as specific antibody response (SAR) to pneumococcal vaccine, autoantibodies and anti-IgA in patients...
July 20, 2017: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/28735348/analysis-of-the-cd8-t-cell-anti-hiv-activity-in-heterologous-cell-co-cultures-reveals-the-benefit-of-multiple-hla-class-i-matches
#7
M Scott Killian, Fernando Teque, Ramu Sudhagoni
CD8(+) T lymphocytes can reduce the production of human immunodeficiency virus 1 (HIV-1) by CD4(+) T cells by cytotoxic and non-cytotoxic mechanisms. To investigate the involvement of human leukocyte antigen (HLA) class I compatibility in anti-HIV responses, we co-cultured primary CD8(+) T cells, isolated from the peripheral blood of HIV-1-infected individuals, with panels of autologous and heterologous acutely HIV-1-infected primary CD4(+) T cells. Altogether, CD8(+) T cell anti-HIV activity was evaluated in more than 200 co-cultures...
July 22, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28734862/respiratory-infections-and-antibiotic-usage-in-common-variable-immunodeficiency
#8
Johannes M Sperlich, Bodo Grimbacher, Sarita Workman, Tanzina Haque, Suranjith L Seneviratne, Siobhan O Burns, Veronika Reiser, Werner Vach, John R Hurst, David M Lowe
BACKGROUND: Patients with common variable immunodeficiency (CVID) suffer frequent respiratory tract infections despite immunoglobulin replacement and are prescribed significant quantities of antibiotics. The clinical and microbiological nature of these exacerbations, the symptomatic triggers to take antibiotics, and the response to treatment have not been previously investigated. OBJECTIVES: To describe the nature, frequency, treatment, and clinical course of respiratory tract exacerbations in patients with CVID and to describe pathogens isolated during respiratory tract exacerbations...
July 19, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28733129/endocannabinoids-exert-cb1-receptor-mediated-neuroprotective-effects-in-models-of-neuronal-damage-induced-by-hiv-1-tat-protein
#9
Changqing Xu, Douglas J Hermes, Blessing Nwanguma, Ian R Jacobs, Kenneth Mackie, Somnath Mukhopadhyay, Aron H Lichtman, Bogna Ignatowska-Jankowska, Sylvia Fitting
In the era of combined antiretroviral therapy (cART), human immunodeficiency virus type 1 (HIV-1) is considered a chronic disease that specifically targets the brain and causes HIV-1-associated neurocognitive disorders (HAND). Endocannabinoids (eCBs) elicit neuroprotective and anti-inflammatory actions in several central nervous system (CNS) disease models, but their effects in HAND remain unknown. HIV-1 does not infect neurons, but produces viral toxins, such as transactivator of transcription (Tat), that disrupt neuronal calcium equilibrium and give rise to synaptodendritic injuries and cell death, the former being highly correlated with HAND...
July 18, 2017: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/28732644/prevalence-of-primary-immunodeficiencies-in-france-is-underestimated
#10
Nizar Mahlaoui, Jean-Philippe Jais, Pauline Brosselin, Cecile Mignot, Beatrice Beaurain, Carolina Brito, Laurence Costes, Virginie Courteille, Nathalie De Vergnes, Alexandre Alcaïs, Alain Fischer
Prevalence of PID has not been precisely determined. A field epidemiology study shows that prevalence of PIDs in registries is under-estimated and that minimal prevalence is 11 per 100,000 inhabitants instead of 8 per 100,000 inhabitants.
July 18, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28731410/infectious-and-noninfectious-pulmonary-complications-in-patients-with-primary-immunodeficiency-disorders
#11
REVIEW
R Yazdani, H Abolhassani, M Asgardoon, M Shaghaghi, M Modaresi, G Azizi, A Aghamohammadi
Primary immunodeficiency disorders (PIDs) are caused by 1 or more defects of the immune system. Patients are more likely to experience recurrent and/or severe infections and tend to develop a wide range of complications. Respiratory diseases are the main and initial manifestation in most cases and the most common complication. Pulmonary complications cause significant morbidity and mortality in patients with PIDs. Early diagnosis and appropriate treatment can prevent or at least slow the development of respiratory complications...
2017: Journal of Investigational Allergology & Clinical Immunology
https://www.readbyqxmd.com/read/28730517/selective-igm-deficiency-clinical-and-laboratory-features-of-17-patients-and-a-review-of-the-literature
#12
Zita Chovancova, Pavlina Kralickova, Alena Pejchalova, Marketa Bloomfield, Jana Nechvatalova, Marcela Vlkova, Jiri Litzman
PURPOSE: Primary selective IgM deficiency (sIgMD) is a primary immunodeficiency with unclear pathogenesis and a low number of published cases. METHODS: We reviewed clinical and laboratory manifestations of 17 sIgMD patients. Serum IgM, IgG, and its subclasses, IgA, IgE, antibodies against tetanus toxoid, pneumococcal polysaccharides and Haemophilus influenzae type b, isohemagglutinins, and T and B lymphocyte subsets, expressions of IgM on B cells and B lymphocyte production of IgM were compared with previously reported case reports and a small series of patients, which included 81 subjects in total...
July 21, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28726798/gene-therapy-research-in-asia
#13
REVIEW
Hong-Xin Deng, Yuan Wang, Qiu-Rong Ding, Da-Li Li, Yu-Quan Wei
Gene therapy has shown great potential for the treatment of diseases that previously were either untreatable or treatable but not curable with conventional schemes. Recent progress in clinical gene therapy trials has emerged in various severe diseases, including primary immunodeficiencies, leukodystrophies, Leber's congenital amaurosis, haemophilia as well as retinal dystrophy. The clinical transformation and industrialization of gene therapy in Asia have been remarkable and continue making steady progress...
July 20, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28726737/respiratory-tract-infections-and-the-role-of-biologically-active-polysaccharides-in-their-management-and-prevention
#14
REVIEW
Milos Jesenak, Ingrid Urbancikova, Peter Banovcin
Respiratory tract infections (RTIs) are the most common form of infections in every age category. Recurrent respiratory tract infections (RRTIs), a specific form of RTIs, represent a typical and common problem associated with early childhood, causing high indirect and direct costs on the healthcare system. They are usually the consequence of immature immunity in children and high exposure to various respiratory pathogens. Their rational management should aim at excluding other severe chronic diseases associated with increased morbidity (e...
July 20, 2017: Nutrients
https://www.readbyqxmd.com/read/28725640/risk-factors-for-impaired-fasting-glucose-or-diabetes-among-hiv-infected-patients-on-art-in-the-copperbelt-province-of-zambia
#15
Perfect Shankalala, Choolwe Jacobs, Samuel Bosomprah, Michael Vinikoor, Patrick Katayamoyo, Charles Michelo
BACKGROUND: Africa has a high prevalence of both Human Immunodeficiency Virus and Non Communicable Diseases (NCDs) but in Zambia there are few data on co-morbid NCDs like Diabetes Mellitus (DM) among HIV-infected individuals. We aimed to identify risk factors for impaired fasting glucose or diabetes among HIV-infected Zambians on long-term Combined Antiretroviral Treatment (cART). METHODS: This was a cross sectional study of adult HIV patients in five health facilities of Copperbelt Province in Zambia...
2017: Journal of Diabetes and Metabolic Disorders
https://www.readbyqxmd.com/read/28723333/enhanced-prophylaxis-plus-antiretroviral-therapy-for-advanced-hiv-infection-in-africa
#16
James Hakim, Victor Musiime, Alex J Szubert, Jane Mallewa, Abraham Siika, Clara Agutu, Simon Walker, Sarah L Pett, Mutsa Bwakura-Dangarembizi, Abbas Lugemwa, Symon Kaunda, Mercy Karoney, Godfrey Musoro, Sheila Kabahenda, Kusum Nathoo, Kathryn Maitland, Anna Griffiths, Margaret J Thomason, Cissy Kityo, Peter Mugyenyi, Andrew J Prendergast, A Sarah Walker, Diana M Gibb
BACKGROUND: In sub-Saharan Africa, among patients with advanced human immunodeficiency virus (HIV) infection, the rate of death from infection (including tuberculosis and cryptococcus) shortly after the initiation of antiretroviral therapy (ART) is approximately 10%. METHODS: In this factorial open-label trial conducted in Uganda, Zimbabwe, Malawi, and Kenya, we enrolled HIV-infected adults and children 5 years of age or older who had not received previous ART and were starting ART with a CD4+ count of fewer than 100 cells per cubic millimeter...
July 20, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28721392/the-response-to-typhi-vi-vaccination-is-compromised-in-individuals-with-primary-immunodeficiency
#17
Jeevani Kumarage, Suranjith L Seneviratne, Vijitha Senaratne, Amitha Fernando, Kirthi Gunasekera, Bandu Gunasena, Padmalal Gurugama, Sudath Peiris, Antony R Parker, Stephen Harding, Nilhan Rajiva de Silva
Measurement of an individuals ability to respond to polysaccharide antigens is a crucial test to determine adaptive immunity. Currently the response to Pneumovax(®) is utilized but with the success of Prevnar(®), measurement of the response to Pneumovax may be challenging. The aim of the study was to assess the response to Typhi Vi vaccination in both children and adult control groups and patients with primary immunodeficiency (PID). In the control groups, >95% of the individuals had pre Typhi Vi vaccination concentrations <100 U/mL and there was significant increase in concentration post Typhi Vi vaccination (p<0...
June 2017: Heliyon
https://www.readbyqxmd.com/read/28721354/diagnostic-outcomes-after-chest-radiograph-interpretation-in-patients-with-suspected-tuberculosis-and-negative-sputum-smears-in-a-high-burden-human-immunodeficiency-virus-and-tuberculosis-setting
#18
Patrick G T Cudahy, Rodney Dawson, Brian W Allwood, Gary Maartens, Douglas Wilson
BACKGROUND: Evaluation of patients with suspected tuberculosis and negative sputum smears for acid-fast bacilli (AFB) is challenging, especially in high human immunodeficiency virus coinfection settings where sputum smears have lower sensitivity for detecting AFB. METHODS: We examined the utility of chest radiographs for detecting smear-negative pulmonary tuberculosis. Three hundred sixty sputum smear-negative patients who were referred from primary care clinics in the KwaZulu-Natal province of South Africa were evaluated...
2017: Open Forum Infectious Diseases
https://www.readbyqxmd.com/read/28721327/two-catastrophes-in-one-patient-drug-reaction-with-eosinophilia-and-systemic-symptoms-and-toxic-shock-syndrome
#19
Moayed Ibrahim, Diana L Nunley
A 70-year-old, immunocompromised patient presented to the emergency room (ER) five weeks after she was started on clopidogrel. She complained of skin eruption, mouth ulcers, fatigue, and myalgia over the past two weeks. Labs showed severe hyponatremia, acute kidney injury, rhabdomyolysis, hyperkalemia, and elevated liver enzymes. She was treated with steroids and discharged after her condition improved. However, a month later, she returned to the ER, complaining of nausea, vomiting, diarrhea, dizziness, chills, and shortness of breath over the past two days...
June 15, 2017: Curēus
https://www.readbyqxmd.com/read/28720148/multifocal-gastric-adenocarcinoma-in-a-patient-with-lrba-deficiency
#20
Nina Bratanič, Jernej Kovač, Katka Pohar, Katarina Trebušak Podkrajšek, Alojz Ihan, Tadej Battelino, Magdalena Avbelj Stefanija
BACKGROUND: Lipopolysaccharide-responsive, beige-like anchor protein (LRBA) deficiency is characterized by primary immunodeficiency and autoimmunity. Cancer may present another feature of LRBA deficiency. We describe a case history of a young adult with LRBA deficiency and two independent malignancies. METHODS: Family-trio whole exome sequencing with unbiased phenotype ontology approach was used for identification of causative mutations of a primary immune deficiency disorder...
July 18, 2017: Orphanet Journal of Rare Diseases
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