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Primary immunodeficiences

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https://www.readbyqxmd.com/read/28914637/signal-transducer-and-activator-of-transcription-gain-of-function-primary-immunodeficiency-immunodysregulation-disorders
#1
Filippo Consonni, Laura Dotta, Francesca Todaro, Donatella Vairo, Raffaele Badolato
PURPOSE OF REVIEW: To describe primary immunodeficiencies caused by gain-of-function (GOF) mutations of signal transducer and activator of transcription (STAT) genes, a group of genetically determined disorders characterized by susceptibility to infections and, in many cases, autoimmune manifestations. RECENT FINDINGS: GOF mutations affecting STAT1 result in increased STAT tyrosine phosphorylation and secondarily increased response to STAT1-signaling cytokines, such as interferons...
September 13, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28914079/co-infection-of-human-herpesvirus-type-2-hhv-2-and-human-immunodeficiency-virus-hiv-among-pregnant-women-in-rio-de-janeiro-brazil
#2
Lyana Rodrigues Pinto Lima, Luis Eduardo Barros Costa Fernandes, Daniel A M Villela, Mariza Gonçalves Morgado, José Henrique Pilotto, Vanessa Salete de Paula
Pregnant women who are infected with the Human Immunodeficiency Virus (HIV) are particularly vulnerable to severe and recurrent infections with Human Herpesvirus 2 (HHV-2). Neonatal transmission of HHV-2 has been associated with malformations and neurological sequelae in infants, which makes it very important to perform antenatal monitoring for genital herpes. In the study, 134 pregnant women infected with HIV were tested for HHV-2 IgM and IgG using an enzyme-linked immunosorbent assay (ELISA) and had HHV-2 DNA analyzed by Real Time Polymerase Chain Reaction (qPCR)...
September 15, 2017: AIDS Care
https://www.readbyqxmd.com/read/28913992/effects-of-immunoglobulin-replacement-on-asthma-exacerbation-in-adult-asthmatics-with-igg-subclass-deficiency
#3
Joo Hee Kim, Young Min Ye, Ga Young Ban, Yoo Seob Shin, Hyun Young Lee, Young Hee Nam, Soo Keol Lee, You Sook Cho, Seung Hun Jang, Ki Suck Jung, Hae Sim Park
PURPOSE: Recurrent respiratory tract infection is a common manifestation of primary immunodeficiency disease, and respiratory viruses or bacteria are important triggers of asthma exacerbations. Asthma often coexists with humoral immunodeficiency in adults, and some asthmatics with immunoglobulin (Ig) G subclass deficiency (IgGSCD) suffer from recurrent exacerbations. Although some studies suggest a benefit from Ig replacement, others have failed to support its use. This study aimed to assess the effect of Ig replacement on asthma exacerbation caused by respiratory infection as well as the asthma control status of adult asthmatics with IgGSCD...
November 2017: Allergy, Asthma & Immunology Research
https://www.readbyqxmd.com/read/28912340/donor-recipient-identification-in-para-and-poly-phyletic-trees-under-alternative-hiv-1-transmission-hypotheses-using-approximate-bayesian-computation
#4
Ethan O Romero-Severson, Ingo Bulla, Nick Hengartner, Inês Bártolo, Ana Abecasis, José M Azevedo-Pereira, Nuno Taveira, Thomas Leitner
Diversity of the founding population of Human Immunodeficiency Virus Type 1 (HIV-1) transmissions raises many important biological, clinical, and epidemiological issues. In up to 40% of sexual infections there is clear evidence for multiple founding variants, which can influence the efficacy of putative prevention methods and the reconstruction of epidemiologic histories. To infer who-infected-whom and to compute the probability of alternative transmission scenarios, while explicitly taking phylogenetic uncertainty into account, we created an Approximate Bayesian Computation (ABC) method based on a set of statistics measuring phylogenetic topology, branch lengths, and genetic diversity...
September 14, 2017: Genetics
https://www.readbyqxmd.com/read/28911361/detecting-mycobacterium-tuberculosis-using-the-loop-mediated-isothermal-amplification-test-in-south-africa
#5
S Reddy, S Ntoyanto, Y Sakadavan, T Reddy, S Mahomed, M Dlamini, B Spooner, G Ramjee, A Coutsoudis, N Ngomane, K Naidoo, K Mlisana, P Kiepiela
SETTING: In South Africa, KwaZulu-Natal is the epicentre of the human immunodeficiency virus (HIV) epidemic, where approximately 70% of people with tuberculosis (TB) are co-infected with HIV. Undiagnosed TB contributes to high mortality in HIV-infected patients. Delays in diagnosing TB and treatment initiation result in prolonged transmission and increased infectiousness. OBJECTIVE: To evaluate the LoopampTM MTBC Detection kit (TB-LAMP; based on the loop-mediated isothermal amplification assay), smear microscopy and Xpert test with the gold standard of mycobacterial culture...
October 1, 2017: International Journal of Tuberculosis and Lung Disease
https://www.readbyqxmd.com/read/28910817/the-lung-in-dysregulated-states-of-humoral-immunity
#6
Yurdagül Uzunhan, Florence Jeny, Marianne Kambouchner, Morgane Didier, Diane Bouvry, Hilario Nunes, Jean-François Bernaudin, Dominique Valeyre
In common variable immunodeficiency, lung manifestations are related to different mechanisms: recurrent pneumonias due to encapsulated bacteria responsible for diffuse bronchiectasis, diffuse infiltrative pneumonia with various patterns, and lymphomas, mostly B cell extranodal non-Hodgkin type. The diagnosis relies on significant serum Ig deficiency and the exclusion of any primary or secondary cause. Histopathology may be needed. Immunoglobulin (IgG) replacement is crucial to prevent infections and bronchiectasis...
September 15, 2017: Respiration; International Review of Thoracic Diseases
https://www.readbyqxmd.com/read/28903508/effect-of-paritaprevir-ritonavir-ombitasvir-dasabuvir-and-ledipasvir-sofosbuvir-regimens-on-survival-compared-with-untreated-hepatitis-c-virus-infected-persons-results-from-erchives
#7
Adeel Ajwad Butt, Peng Yan, Tracey G Simon, Abdul-Badi Abou-Samra
Background: Interferon-based regimens are associated with a substantial survival benefit for persons infected with hepatitis C virus (HCV). Survival data with direct-acting antiviral agents are not available. We conducted this study to quantify the effect of paritaprevir/ritonavir, ombitasvir, dasabuvir (PrOD) and ledipasvir/sofosbuvir (LDV/SOF) regimens upon mortality. Methods: In the Electronically Retrieved Cohort of HCV Infected Veterans (ERCHIVES), a well-established national cohort of HCV-infected Veterans, we identified HCV-infected persons initiated on PrOD or LDV/SOF, excluding those with human immunodeficiency virus, hepatitis B surface antigen positivity, hepatocellular carcinoma, or missing HCV RNA or FIB-4 scores...
September 15, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28902078/squamous-cell-carcinoma-with-hyper-ige-syndrome-a-case-report
#8
Ayse S Sasihuseyinoglu, Mustafa Yilmaz, Derya U Altintaş, Dilek Dogruel, Mahir Serbes, Aysun H Uğuz, Mete Kiroğlu
BACKGROUND: Hyper-immunoglobulin E syndrome (HIES) is a rare primary immunodeficiency disease characterized by recurrent infections and elevated levels of serum immunoglobulin E, usually over 2000 IU/mL. Recurrent and chronic infection of the epidermis and squamous epithelium may also be a cause of squamous cell carcinoma (SCC). SCC is rare with HIES. CASE REPORT: A 17-year-old male patient who was diagnosed as HIES was admitted with purulent right ear discharge...
September 8, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28901730/reduced-toxicity-alternate-donor-stem-cell-transplantation-with-posttransplant-cyclophosphamide-for-primary-immunodeficiency-disorders
#9
Neha Rastogi, Satyendra Katewa, Dhwanee Thakkar, Shruti Kohli, Sagar Nivargi, Satya Prakash Yadav
We describe here the outcomes of reduced-toxicity alternate-donor stem cell transplant (SCT) with posttransplant cyclophosphamide (PTCy) for primary immunodeficiency disorders (PIDs) in eight children (haploidentical-seven and matched unrelated donor-one). The conditioning was with serotherapy (alemtuzumab-3/rabbit-anti-thymoglobulin-5); fludarabine, cyclophosphamide, and total body irradiation-5 (additional thiotepa-3); fludarabine and treosulfan-2; and fludarabine and busulfan-1. All received PTCy 50 mg/kg on days 3 and 4 as graft versus host disease prophylaxis along with tacrolimus and mycophenolate...
September 13, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28900865/genetic-counseling-in-primary-immunodeficiency-disorders-an-emerging-experience-in-egypt
#10
Rabab E El Hawary, Safa S Meshaal, Dalia S Abd Elaziz, Marwa A Elsharkawy, Radwa S Alkady, Sohilla Lotfy, Ahmad El-Sheikhah, Amr Hassan, Nermeen M Galal, Jeannette A Boutros, Aisha M Elmarsafy
BACKGROUND: Primary immunodeficiency disorders (PIDs) are a heterogeneous group of diseases of the immune system leading to life-threatening infections, and, unless urgently treated with immune reconstitution, patients do not usually survive. With the continuing progress in molecular diagnosis, many mutations have been described in more than 300 genes. Genetic counseling has recently been considered an essential part of the management of PIDs. This study presents the experience of genetic counseling services in the largest PID center in Egypt, and reports on our management plan and the impact of prenatal diagnosis (PND) on families...
September 12, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28899930/therapeutic-gene-editing-in-cd34-hematopoietic-progenitors-from-fanconi-anemia-patients
#11
Begoña Diez, Pietro Genovese, Francisco J Roman-Rodriguez, Lara Alvarez, Giulia Schiroli, Laura Ugalde, Sandra Rodriguez-Perales, Julian Sevilla, Cristina Diaz de Heredia, Michael C Holmes, Angelo Lombardo, Luigi Naldini, Juan Antonio Bueren, Paula Rio
Gene targeting constitutes a new step in the development of gene therapy for inherited diseases. Although previous studies have shown the feasibility of editing fibroblasts from Fanconi anemia (FA) patients, here we aimed at conducting therapeutic gene editing in clinically relevant cells, such as hematopoietic stem cells (HSCs). In our first experiments, we showed that zinc finger nuclease (ZFN)-mediated insertion of a non-therapeutic EGFP-reporter donor in the AAVS1 "safe harbor" locus of FA-A lymphoblastic cell lines (LCLs), indicating that FANCA is not essential for the editing of human cells...
September 12, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28895850/gene-therapy-approaches-to-immunodeficiency
#12
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/28888028/effect-of-reduced-intensity-conditioning-and-the-risk-of-late-onset-non-infectious-pulmonary-complications-in-pediatric-patients
#13
Masayuki Nagasawa, Noriko Mitsuiki, Yuki Aoki, Toshiaki Ono, Takeshi Isoda, Kohsuke Imai, Masatoshi Takagi, Michiko Kajiwara, Hirokazu Kanegane, Tomohiro Morio
OBJECTIVE: Late-onset non-infectious pulmonary complications (LONIPCs) contribute to higher morbidity and mortality after allogeneic hematopoietic stem cell transplantation (allo-HSCT). Therefore, we investigated the risk factors of LONIPCs in pediatric patients. METHOD: Between 2001 and 2011, 74 pediatric patients (range, 7 months to 22.7 years old; median 6.5 years old), including 29 with a primary immunodeficiency underwent 80 allo-HSCTs at our institution. Sixty-seven patients who survived more than 3 months after allo-HSCT were analyzed retrospectively...
September 9, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28887810/advantages-of-chinese-medicine-for-patients-with-acquired-immunodeficiency-syndrome-in-rural-central-china
#14
Qian-Lei Xu, Hui-Jun Guo, Yan-Tao Jin, Jian Wang, Zi-Qiang Jiang, Zheng-Wei Li, Xiu-Min Chen, Ying Liu, Li-Ran Xu
OBJECTIVE: To analyze the effect of Chinese medicine (CM) on mortality and quality of life (QOL) of acquired immunodeficiency syndrome (AIDS) patients treated with combined antiretroviral therapy (cART). METHODS: A random sample of AIDS patients enrolled in the National Chinese Medicine Treatment Trial Program (NCMTP) that met the inclusion criteria was included in this study. NCMTP patients were included as the CM+cART group, and those not in the NCMTP were included as the cART group...
September 8, 2017: Chinese Journal of Integrative Medicine
https://www.readbyqxmd.com/read/28884831/addressing-antiretroviral-therapy-associated-drug-drug-interactions-in-patients-requiring-treatment-for-opportunistic-infections-in-low-income-and-resource-limited-settings
#15
Daniel B Chastain, Carlos Franco-Paredes, Kayla R Stover
An increasing number of human immunodeficiency virus (HIV)-infected patients are achieving virologic suppression on antiretroviral therapy (ART) limiting the use of primary and secondary antimicrobial prophylaxis. However, in low-income and resource-limited settings, half of those infected with HIV are unaware of their diagnosis, and fewer than 50% of patients on ART achieve virologic suppression. Management of comorbidities and opportunistic infections among patients on ART may lead to inevitable drug-drug interactions (DDIs) and even toxicities...
September 8, 2017: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28877865/developing-a-web-based-geolocated-directory-of-hiv-pre-exposure-prophylaxis-providing-clinics-the-prep-locator-protocol-and-operating-procedures
#16
Aaron J Siegler, Susan Wirtz, Shannon Weber, Patrick S Sullivan
BACKGROUND: Human immunodeficiency virus (HIV) pre-exposure prophylaxis (PrEP) is highly effective in preventing HIV transmission, yet patients interested in learning more about PrEP or in getting a PrEP prescription may not be able to find local medical providers willing to prescribe PrEP. OBJECTIVE: We sought to create a national database of PrEP-providing clinics to allow for patients to have access to a unified, vetted source of PrEP providers in an easily accessible database...
September 6, 2017: JMIR Public Health and Surveillance
https://www.readbyqxmd.com/read/28876555/an-overview-of-risk-factors-for-recurrent-breast-cancer
#17
A Mannell
The multidisciplinary management of Breast Cancer (BC) has evolved over the past 50 years: the patient is offered a choice of surgical procedures with or without radiation therapy, cytotoxics and treatments targeting the nuclei of the cancer cells. This has resulted in a reduction of disease recurrence and a significant increase in 5-year survival. But these good results deteriorate over time and almost 20% women with early stage, oestrogen-receptor (ER) positive BC will suffer recurrent cancer at 10 years...
March 2017: South African Journal of Surgery. Suid-Afrikaanse Tydskrif Vir Chirurgie
https://www.readbyqxmd.com/read/28876296/neighborhood-health-care-access-and-sexually-transmitted-infections-among-women-in-the-southern-united-states-a-cross-sectional-multilevel-analysis
#18
Danielle F Haley, Andrew Edmonds, Nadya Belenky, DeMarc A Hickson, Catalina Ramirez, Gina M Wingood, Hector Bolivar, Elizabeth Golub, Adaora A Adimora
INTRODUCTION: The United States has experienced an increase in reportable sexually transmitted infections (STIs) while simultaneously experiencing a decline in safety net services for STI testing and treatment. This multilevel study assessed relationships between neighborhood-level access to health care and STIs among a predominantly Human Immunodeficiency Virus (HIV)-seropositive cohort of women living in the south. METHODS: This cross-sectional multilevel analysis included baseline data from HIV-seropositive and HIV-seronegative women enrolled in the Women's Interagency HIV Study sites in Alabama, Florida, Georgia, Mississippi, and North Carolina between 2013 and 2015 (N = 666)...
August 2, 2017: Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/28876286/investigation-of-early-syphilis-trends-among-men-who-have-sex-with-men-to-identify-gaps-in-screening-and-case-finding-in-baltimore-city-maryland
#19
Christina M Schumacher, Errol Fields, Aruna Chandran, Omeid Heidari, Yvonne Kingon, Patrick Chaulk, Jacky M Jennings
BACKGROUND: Syphilis incidence is increasing across the United States among men who have sex with men (MSM). Early latent (EL) versus primary and secondary (P&S) syphilis may be an indicator of delayed diagnosis and increased opportunity for transmission. To inform syphilis control strategies and identify potential gaps in case finding, we described recent syphilis trends among MSM and compared characteristics of syphilis cases by diagnosis stage. METHODS: We used public health surveillance data on P&S and EL syphilis diagnoses reported to the Baltimore City Health Department between 2009 and 2015...
August 28, 2017: Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/28875839/repositioning-drugs-for-rare-immune-diseases-hopes-and-challenges-for-a-precision-medicine
#20
Erica Valencic, Alenka Smid, Ziga Jakopin, Alberto Tommasini, Irena Mlinaric-Rascan
Human primary immunodeficiency diseases (PIDs) are a large group of rare diseases and are characterized by a great genetic and phenotypic heterogeneity. A large subset of PIDs is genetically defined, which has a crucial impact for the understanding of the molecular basis of disease and the development of precision medicine. Discovery and development of new therapies for rare diseases has long been de-privileged due to the length and cost of the processes involved. Interest has increased due to stimulatory regulatory and supportive reimbursement environments enabling viable business models...
August 29, 2017: Current Medicinal Chemistry
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