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https://www.readbyqxmd.com/read/28927202/role-of-molecular-biomarkers-in-the-diagnosis-of-invasive-fungal-diseases-in-children
#1
Anna R Huppler, Brian T Fisher, Thomas Lehrnbecher, Thomas J Walsh, William J Steinbach
Invasive fungal diseases are important clinical problems that are often complicated by severe illness and therefore the inability to use invasive measures to definitively diagnose the disease. Tests for a range of fungal biomarkers that do not require an invasive sample-collection procedure have been incorporated into adult clinical practice, but pediatric data and pediatric-specific recommendations for some of these diagnostic tools are lacking. In this review, we summarize the published literature and contemporary strategies for using the biomarkers galactomannan, (1→3)-β-d-glucan, Candida mannan antigen and anti-mannan antibody, and fungal polymerase chain reaction for diagnosing invasive fungal disease in children...
September 1, 2017: Journal of the Pediatric Infectious Diseases Society
https://www.readbyqxmd.com/read/28922955/comparison-of-zfns-versus-crispr-specific-nucleases-for-genome-edition-of-the-wiskott-aldrich-syndrome-locus
#2
Alejandra Gutierrez-Guerrero, Sabina Sanchez-Hernandez, Giuseppe Galvani, Javier Pinedo-Gomez, Almudena Sanchez-Gilabert, Rocio Martin-Guerra, Marien Cobo, Philip Gregory, Michael Holmes, Karim Benabdellah, Francisco Martin
Primary immunodeficiencies (PID), including Wiskott-Aldrich syndrome (WAS), are a main target for genome editing (GE) strategies using specific nucleases (SNs) since a small number of corrected hematopoietic stem cells (HSCs) could cure patients. In this work, we have designed different WAS gene-specific CRISPR/Cas9 systems and compared their efficiency and specificity with homodimeric and heterodimeric WAS-specific Zinc Finger Nucleases (ZFNs) using K562 cells as a cellular model and plasmid nucleofection or integrative-deficient Lentiviral Vectors (IDLVs) for delivery...
September 19, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28914637/signal-transducer-and-activator-of-transcription-gain-of-function-primary-immunodeficiency-immunodysregulation-disorders
#3
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/28913992/effects-of-immunoglobulin-replacement-on-asthma-exacerbation-in-adult-asthmatics-with-igg-subclass-deficiency
#4
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/28902078/squamous-cell-carcinoma-with-hyper-ige-syndrome-a-case-report
#5
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
#6
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
#7
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/28895850/gene-therapy-approaches-to-immunodeficiency
#8
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
#9
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/28875839/repositioning-drugs-for-rare-immune-diseases-hopes-and-challenges-for-a-precision-medicine
#10
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
https://www.readbyqxmd.com/read/28874415/cytokine-mediated-regulation-of-human-lymphocyte-development-and-function-insights-from-primary-immunodeficiencies
#11
REVIEW
Stuart G Tangye, Simon J Pelham, Elissa K Deenick, Cindy S Ma
Cytokine-mediated intracellular signaling pathways are fundamental for the development, activation, and differentiation of lymphocytes. These distinct processes underlie protection against infectious diseases after natural infection with pathogens or immunization, thereby providing the host with long-lived immunological memory. In contrast, aberrant cytokine signaling can also result in conditions of immune dysregulation, such as early-onset autoimmunity. Thus, balanced signals provided by distinct cytokines, and delivered to specific cell subsets, are critical for immune homeostasis...
September 15, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28871852/recombinant-human-hyaluronidase-facilitated-subcutaneous-immunoglobulin-infusion-in-primary-immunodeficiency-diseases
#12
Richard L Wasserman
Most primary immunodeficiency diseases (PIDDs) resulting in antibody deficiency require intravenous or subcutaneous immunoglobulin G (SCIG) replacement therapy. The flow and distribution of SCIG to the vasculature is impeded by the glycosaminoglycan hyaluronan in the extracellular matrix, which limits the infusion rate and volume per site, necessitating frequent infusions and multiple infusion sites. Hyaluronidase depolymerizes hyaluronan and is a spreading factor for injectable biologics. Recombinant human hyaluronidase (rHuPH20) increases SCIG absorption and dispersion...
September 5, 2017: Immunotherapy
https://www.readbyqxmd.com/read/28868834/recurrent-vulvovaginal-candidiasis-could-it-be-related-to-cell-mediated-immunity-defect-in-response-to-candida-antigen
#13
Zahra Talaei, Saba Sheikhbahaei, Vajihe Ostadi, Mazdak Ganjalikhani Hakemi, Mohsen Meidani, Elham Naghshineh, Majid Yaran, Alireza Emami Naeini, Roya Sherkat
Background: Recurrent vulvovaginal candidiasis (RVVC) is a common cause of morbidity affecting millions of women worldwide. Patients with RVVC are thought to have an underlying immunologic defect. This study has been established to evaluate cell-mediated immunity defect in response to candida antigen in RVVC cases. MATERIALS AND METHODS: Our cross-sectional study was performed in 3 groups of RVVC patients (cases), healthy individuals (control I) and known cases of chronic mucocutaneous candidiasis (CMC) (control II)...
October 2017: International Journal of Fertility & Sterility
https://www.readbyqxmd.com/read/28866302/hemophagocytic-syndrome-primary-forms-and-predisposing-conditions
#14
REVIEW
Fernando E Sepulveda, Geneviève de Saint Basile
Hemophagocytic lymphohistiocytosis (HLH, also referred to a hemophagocytic syndrome) is a life-threatening condition in which uncontrolled activation of lymphocytes and macrophages, and thus the secretion of large amounts of inflammatory cytokines, leads to a severe hyperinflammatory state. Over the last few decades, researchers have characterized primary forms of HLH caused by genetic defects that impair lymphocytes' cytotoxic machinery. Other genetic causes of HLH not related to impaired cytotoxicity have also recently been identified...
August 31, 2017: Current Opinion in Immunology
https://www.readbyqxmd.com/read/28861919/newborn-screening-for-severe-combined-immunodeficiency-evaluation-of-a-commercial-t-cell-receptor-excision-circle-based-method-in-victorian-dried-blood-spots
#15
Stephanie Richards, James Pitt, Sharon Choo
AIM: Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency and is fatal in infancy if untreated. As early diagnosis is associated with improved outcomes, SCID is an ideal condition to consider for inclusion in a newborn screening (NBS) programme in Australia. In this feasibility study, we evaluated the EnLite Neonatal TREC kit for detection of T-cell receptor excision circles (TRECs) from NBS dried blood spots for the identification of known SCID patients in Victoria...
September 1, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28842840/erratum-to-emerging-infections-and-pertinent-infections-related-to-travel-for-patients-with-primary-immunodeficiencies
#16
Kathleen E Sullivan, Hamid Bassiri, Ahmed A Bousfiha, Beatriz T Costa-Carvalho, Alexandra F Freeman, David Hagin, Yu L Lau, Michail S Lionakis, Ileana Moreira, Jorge A Pinto, M Isabel de Moraes-Pinto, Amit Rawat, Shereen M Reda, Saul Oswaldo Lugo Reyes, Mikko Seppänen, Mimi L K Tang
No abstract text is available yet for this article.
October 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28838194/lessons-from-the-polio-endgame-overcoming-the-failure-to-vaccinate-and-the-role-of-subpopulations-in-maintaining-transmission
#17
Kimberly M Thompson, Radboud J Duintjer Tebbens
Background: Recent detections of circulating serotype 2 vaccine-derived poliovirus in northern Nigeria (Borno and Sokoto states) and Pakistan (Balochistan Province) and serotype 1 wild poliovirus in Pakistan, Afghanistan, and Nigeria (Borno) represent public health emergencies that require aggressive response. Methods: We demonstrate the importance of undervaccinated subpopulations, using an existing dynamic poliovirus transmission and oral poliovirus vaccine evolution model...
July 1, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28827384/sap-and-lessons-learned-from-a-primary-immunodeficiency
#18
Jennifer L Cannons, Pamela L Schwartzberg
No abstract text is available yet for this article.
September 1, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28826774/advances-in-basic-and-clinical-immunology-in-2016
#19
Javier Chinen, Yousef Badran, Raif S Geha, Janet S Chou, Ari J Fried
Advances in basic immunology in 2016 included studies that further characterized the role of different proteins in the differentiation of effector T and B cells, including cytokines and proteins involved in the actin cytoskeleton. Regulation of granule formation and secretion in cytotoxic cells was also further described by examining patients with familial hemophagocytic lymphohistiocytosis. The role of prenylation in patients with mevalonate kinase deficiency leading to inflammation has been established. We reviewed advances in clinical immunology, as well as new approaches of whole-genome sequencing and genes newly reported to be associated with immunodeficiency, such as linker of activation of T cells (LAT); B-cell CLL/lymphoma 11B (BCL11B); RGD, leucine-rich repeat, tropomodulin domain, and proline-rich domain-containing protein (RLTPR); moesin; and Janus kinase 1 (JAK1)...
August 19, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28822097/a-38-year-old-woman-with-necrotising-cervical-lymphadenitis-due-to-histoplasma-capsulatum
#20
Esther van de Vosse, Annelies van Wengen, Wendy F van der Meide, Leo G Visser, Jaap T van Dissel
CASE PRESENTATION: We analysed a 38-year-old woman with disseminated histoplasmosis for primary immunodeficiency. Her blood showed no IFN-γ response while her peripheral blood mononuclear cells (PBMCs) did. We identified IFN-γ autoantibodies of the IgG class in her serum. CONCLUSION: IFN-γ autoantibodies leading to infections were so far mainly detected in people from Asian descent, where it was found to be associated with certain HLA types. This may be the first patient of African descent, and without the typical HLA types that predispose to this problem, that produces IFN-γ autoantibodies...
August 18, 2017: Infection
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