keyword
MENU ▼
Read by QxMD icon Read
search

combined severe immunodeficiency

keyword
https://www.readbyqxmd.com/read/28550350/recent-advances-in-the-study-of-immunodeficiency-and-dna-damage-response
#1
REVIEW
Tomohiro Morio
DNA breaks can be induced by exogenous stimuli or by endogenous stress, but are also generated during recombination of V, D, and J genes (V(D)J recombination), immunoglobulin class switch recombination (CSR). Among various DNA breaks generated, DNA double strand break (DSB) is the most deleterious one. DNA damage response (DDR) is initiated when DSBs are detected, leading to DNA break repair by non-homologous end joining (NHEJ). The process is critically important for the generation of diversity for foreign antigens; and failure to exert DNA repair leads to immunodeficiency such as severe combined immunodeficiency and hyper-IgM syndrome...
May 26, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28543917/a-novel-pgm3-mutation-is-associated-with-a-severe-phenotype-of-bone-marrow-failure-severe-combined-immunodeficiency-skeletal-dysplasia-and-congenital-malformations
#2
Guillermo Pacheco-Cuéllar, Julie Gauthier, Valérie Désilets, Christian Lachance, Marlène Lemire-Girard, Françoise Rypens, Françoise Le Deist, Hélène Decaluwe, Michel Duval, Dorothée Bauron Dal Soglio, Victor Kokta, Élie Haddad, Philippe M Campeau
Congenital disorders of glycosylation (CDGs) affect multiple systems and present a broad spectrum of clinical features, often including skeletal dysplasia and exome sequencing has led to the identification of new CDG genes . Immune and skeletal phenotypes associated with mutations in PGM3, encoding a protein which converts N-acetyl-glucosamine-6-phosphate into N-acetyl-glucosamine-1-phosphate, were recently reported. Through exome sequencing, we identified a novel homozygous mutation (c.1219T > C; p...
May 22, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28543733/development-of-real-time-rt-pcr-assays-for-detection-of-three-classes-of-hhv-6a-gene-transcripts
#3
Masaru Ihira, Akiko Urashima, Hiroki Miura, Fumihiko Hattori, Yoshiki Kawamura, Ken Sugata, Tetsushi Yoshikawa
Human herpesvirus 6 (HHV-6), a member of the betaherpesvirus family, has two distinct species: HHV-6A and HHV-6B. HHV-6B real-time reverse transcription polymerase chain reaction (RT-PCR) has been used to distinguish between active and latent viral infection. In this study, we developed a real-time RT-PCR assay to detect HHV-6A-specific transcripts and evaluated its reliability for analysis of clinical samples. To develop HHV-6A-specific real-time RT-PCR assays, three different classes of gene transcripts (immediate early: U90; early: U12; and late: U100) were selected as targets...
May 23, 2017: Journal of Medical Virology
https://www.readbyqxmd.com/read/28540525/identification-of-22q11-2-deletion-syndrome-via-newborn-screening-for-severe-combined-immunodeficiency
#4
Jessica C Barry, Terrence Blaine Crowley, Soma Jyonouchi, Jennifer Heimall, Elaine H Zackai, Kathleen E Sullivan, Donna M McDonald-McGinn
PURPOSE: Chromosome 22q11.2 deletion syndrome (22q11.2DS), the most common cause of DiGeorge syndrome, is quite variable. Neonatal diagnosis traditionally relies on recognition of classic features and cytogenetic testing, but many patients come to attention only following identification of later onset conditions, such as hypernasal speech due to palatal insufficiency and developmental and behavioral differences including speech delay, autism, and learning disabilities that would benefit from early interventions...
May 24, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28520969/cell-mediated-immunity-to-target-the-persistent-human-immunodeficiency-virus-reservoir
#5
James L Riley, Luis J Montaner
Effective clearance of virally infected cells requires the sequential activity of innate and adaptive immunity effectors. In human immunodeficiency virus (HIV) infection, naturally induced cell-mediated immune responses rarely eradicate infection. However, optimized immune responses could potentially be leveraged in HIV cure efforts if epitope escape and lack of sustained effector memory responses were to be addressed. Here we review leading HIV cure strategies that harness cell-mediated control against HIV in stably suppressed antiretroviral-treated subjects...
March 15, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28513891/haematopoietic-stem-cell-transplantation-for-severe-combined-immunodeficiency-long-term-health-outcomes-and-patient-perspectives
#6
Adrian Ys Lee, Katie Frith, Lilian Schneider, John B Ziegler
AIM: To examine the long-term follow-up and health outcomes of patients who have undergone haematopoietic stem cell transplant (HSCT) for severe combined immunodeficiency (SCID). METHODS: Through a structured questionnaire, we examined follow-up arrangements and long-term health outcomes in 22 children who have had a successful HSCT for SCID during the period of 1984-2012 at the Sydney Children's Hospital, Sydney, Australia. RESULTS: Most children considered themselves healthy and 'cured' from SCID...
May 17, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28513593/jak3-deficiency-blocks-innate-lymphoid-cell-development
#7
M L Robinette, M Cella, J B Telliez, T K Ulland, A D Barrow, K Capuder, S Gilfillan, L-L Lin, L D Notarangelo, M Colonna
Loss-of-function mutations in the tyrosine kinase JAK3 cause autosomal recessive severe combined immunodeficiency (SCID). Defects in this form of SCID are restricted to the immune system, which led to the development of immunosuppressive JAK inhibitors. We find that the B6.Cg-Nr1d1(tm1Ven)/LazJ mouse line purchased from Jackson Laboratories harbors a spontaneous mutation in Jak3, generating a SCID phenotype and an inability to generate antigen-independent professional cytokine-producing innate lymphoid cells (ILCs)...
May 17, 2017: Mucosal Immunology
https://www.readbyqxmd.com/read/28512785/clinical-immunological-molecular-analyses-and-outcomes-of-iranian-patients-with-lrba-deficiency-a-longitudinal-study
#8
Gholamreza Azizi, Hassan Abolhassani, Seyed Alireza Mahdaviani, Zahra Chavoshzadeh, Peyman Eshghi, Reza Yazdani, Fatemeh Kiaee, Mohammadreza Shaghaghi, Javad Mohammadi, Nima Rezaei, Lennart Hammarström, Asghar Aghamohammadi
BACKGROUND: LPS-responsive beige-like anchor protein (LRBA) deficiency is a combined immunodeficiency caused by mutation in LRBA gene. The patients have a variety of clinical symptoms including hypogammaglobulinemia, recurrent infections, autoimmunity and enteropathy. METHODS: A total of 17 LRBA-deficient patients were enrolled in this longitudinal study. For all patients, demographic information, clinical records, laboratory and molecular data were collected. RESULTS: Hypogammaglobulinemia were reported in 14 (82...
May 17, 2017: Pediatric Allergy and Immunology
https://www.readbyqxmd.com/read/28511686/intrathymic-injection-of-hematopoietic-progenitor-cells-establishes-functional-t-cell-development-in-a-mouse-model-of-severe-combined-immunodeficiency
#9
Andrea Z Tuckett, Raymond H Thornton, Richard J O'Reilly, Marcel R M van den Brink, Johannes L Zakrzewski
BACKGROUND: Even though hematopoietic stem cell transplantation can be curative in patients with severe combined immunodeficiency, there is a need for additional strategies boosting T cell immunity in individuals suffering from genetic disorders of lymphoid development. Here we show that image-guided intrathymic injection of hematopoietic stem and progenitor cells in NOD-scid IL2rγ(null) mice is feasible and facilitates the generation of functional T cells conferring protective immunity...
May 16, 2017: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/28508976/idiopathic-collapsing-focal-segmental-glomerulosclerosis-in-an-81-year-old-japanese-woman-a-case-report-and-review-of-the-literature
#10
Jun Yamazaki, Eriko Kanehisa, Wakaba Yamaguchi, Jiro Kumagai, Kiyotaka Nagahama, Hajime Fujisawa
Focal segmental glomerulosclerosis (FSGS) is classified into five variants, with the collapsing variant being the most rare. Collapsing FSGS is characterized by a black racial predominance and is often associated with human immunodeficiency virus-associated nephropathy. However, the number of idiopathic cases is increasing and the presentation of non-black patients becoming more routine. Our analysis of 15 previous reports investigating FSGS variants shows that the collapsing variant accounts for 10.6 % of FSGS cases and its average age of onset is 32 years old...
November 2016: CEN Case Reports
https://www.readbyqxmd.com/read/28508448/a-novel-multi-epitope-vaccine-from-mmsa-1-and-dkk1-for-multiple-myeloma-immunotherapy
#11
Chenyang Lu, Shan Meng, Yanxia Jin, Wanggang Zhang, Zongfang Li, Fang Wang, Feng Wang-Johanning, Yongchang Wei, Hailing Liu, Honglei Tu, Dan Su, Aili He, Xingmei Cao, Fuling Zhou
The identification of novel tumour-associated antigens is urgently needed to improve the efficacy of immunotherapy for multiple myeloma (MM). In this study, we identified a membrane protein MMSA-1 (multiple myeloma special antigen-1) that was specifically expressed in MM and exhibited significantly positive correlation with MM. We then identified HLA-A*0201-restricted MMSA-1 epitopes and tested their cytotoxic T lymphocyte (CTL) response. The MMSA-1 epitope SLSLLTIYV vaccine was shown to induce an obvious CTL response in vitro...
May 16, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28492556/plscr1-ip3r1-ca-2-axis-contributes-to-differentiation-of-primary-aml-cells-induced-by-wogonoside
#12
Hui Li, Jingyan Xu, Yuxin Zhou, Xiao Liu, L E Shen, Y U Zhu, Zhiyu Li, Xiaotang Wang, Qinglong Guo, Hui Hui
Multiple lines of evidence have demonstrated that increased expression of phospholipid scramblase 1 (PLSCR1) is involved in the differentiation of acute myeloid leukemia (AML) cells by several differentiation-inducing agents including ATRA and phorbol 12-myristate 13-acetate. However, none of these agents can achieve nonhomogenous subcellular distribution of PLSCR1. We have demonstrated that wogonoside possesses differentiation and anti-leukemic effects in AML cell lines by promoting PLSCR1 trafficking into nucleus...
May 11, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28487086/an-evaluation-of-the-trec-assay-with-regard-to-the-integration-of-scid-screening-into-the-dutch-newborn-screening-program
#13
Maartje Blom, Ingrid Pico-Knijnenburg, Marja Sijne-van Veen, Anita Boelen, Robbert G M Bredius, Mirjam van der Burg, Peter C J I Schielen
Newborn screening of severe combined immunodeficiency through the detection of T-cell receptor excision circles will provide the opportunity of treating before the occurrence of life-threatening infections. With the EnLite Neonatal TREC assay (PerkinElmer) and end-point PCR, 39 samples (3.0%) of 1295 heel prick cards of the Dutch newborn screening program required a retest after initial analysis. After retest, 21 samples (1.62%) gave TREC levels below cut-off. A significant reduction in TREC levels was observed in heel prick cards stored for three months (n=33) and one year (n=33)...
May 6, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28481876/oncogenic-activity-of-amplified-miniature-chromosome-maintenance-8-in-human-malignancies
#14
D-M He, B-G Ren, S Liu, L-Z Tan, K Cieply, G Tseng, Y P Yu, J-H Luo
Miniature chromosome maintenance (MCM) proteins play critical roles in DNA replication licensing, initiation and elongation. MCM8, one of the MCM proteins playing a critical role in DNA repairing and recombination, was found to have overexpression and increased DNA copy number in a variety of human malignancies. The gain of MCM8 is associated with aggressive clinical features of several human cancers. Increased expression of MCM8 in prostate cancer is associated with cancer recurrence. Forced expression of MCM8 in RWPE1 cells, the immortalized but non-transformed prostate epithelial cell line, exhibited fast cell growth and transformation, while knock down of MCM8 in PC3, DU145 and LNCaP cells induced cell growth arrest, and decreased tumour volumes and mortality of severe combined immunodeficiency mice xenografted with PC3 and DU145 cells...
May 8, 2017: Oncogene
https://www.readbyqxmd.com/read/28480310/genetic-engineering-and-manufacturing-of-hematopoietic-stem-cells
#15
REVIEW
Xiuyan Wang, Isabelle Rivière
The marketing approval of genetically engineered hematopoietic stem cells (HSCs) as the first-line therapy for the treatment of severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID) is a tribute to the substantial progress that has been made regarding HSC engineering in the past decade. Reproducible manufacturing of high-quality, clinical-grade, genetically engineered HSCs is the foundation for broadening the application of this technology. Herein, the current state-of-the-art manufacturing platforms to genetically engineer HSCs as well as the challenges pertaining to production standardization and product characterization are addressed in the context of primary immunodeficiency diseases (PIDs) and other monogenic disorders...
June 16, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28479164/recommendations-for-screening-and-management-of-late-effects-in-scid-patients-after-allogenic-hematopoietic-cell-transplantation-hct-a-consensus-statement-from-the-second-pediatric-blood-and-marrow-transplant-consortium-international-conference-on-late-effects
#16
REVIEW
J Heimall, R H Buckley, J Puck, T A Fleisher, A R Gennery, E Haddad, B Neven, M Slatter, Roderick S, K S Baker, A C Dietz, C Duncan, L M Griffith, L Notarangelo, M A Pulsipher, M J Cowan
Severe Combined Immunodeficiency (SCID) is effectively treated with HCT with overall survival approaching 90% in contemporary reports. However, survivors are at risk for development of late complications due to the variable durability of high quality immune function, underlying genotype of SCID, comorbidities due to infections in the pre- and post- transplant period and use of conditioning pre-transplant. An international group of transplant experts was convened in 2016 to review the current knowledge of late effects seen in SCID patients following HCT, and develop recommendations for screening and monitoring for late effects...
May 4, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28474622/preclinical-safety-toxicity-evaluation-of-pooled-allogeneic-human-bone-marrow-derived-mesenchymal-stromal-cells
#17
Mathiyazhagan Rengasamy, Pawan Kumar Gupta, Udaykumar Kolkundkar, Gurbind Singh, Sudha Balasubramanian, Swathi SundarRaj, Anoop Chullikana, Anish Sen Majumdar
BACKGROUND & OBJECTIVES: Administration of ex vivo-expanded human bone marrow-derived mesenchymal stromal cells (hBMMSC) obtained from single donors has shown therapeutic benefits in both preclinical and clinical studies. In this study, the safety, toxicity and biodistribution profiles of a pooled hBMMSC population, produced from three healthy donors were assessed in rodent and non-rodents. METHODS: The pooled hBMMSC population was characterized by their expression of various cell surface markers, differentiation potential and immunomodulatory activity...
December 2016: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28470014/risk-of-acute-liver-injury-with-antiretroviral-therapy-by-viral-hepatitis-status
#18
Charitha Gowda, Craig W Newcomb, Qing Liu, Dena M Carbonari, James D Lewis, Kimberly A Forde, David S Goldberg, K Rajender Reddy, Jason A Roy, Amy R Marks, Jennifer L Schneider, Jay R Kostman, Janet P Tate, Joseph K Lim, Amy C Justice, Matthew Bidwell Goetz, Douglas A Corley, Vincent Lo Re
BACKGROUND: The risk of hepatotoxicity with antiretroviral therapy (ART) remains unknown. We determined the comparative risk of acute liver injury (ALI) for antiretroviral drugs, classes, and regimens, by viral hepatitis status. METHODS: We followed a cohort of 10 083 human immunodeficiency virus (HIV)-infected persons in Kaiser Permanente Northern California (n = 2099) from 2004 to 2010 and the Veterans Aging Cohort Study (n = 7984) from 2004 to 2012. Within the first year of ART, we determined occurrence of (1) liver aminotransferases >200 U/L and (2) severe ALI (coagulopathy with hyperbilirubinemia)...
2017: Open Forum Infectious Diseases
https://www.readbyqxmd.com/read/28467694/durable-control-of-autoimmune-diabetes-in-mice-achieved-by-intraperitoneal-transplantation-of-neo-islets-three-dimensional-aggregates-of-allogeneic-islet-and-mesenchymal-stem-cells
#19
Christof Westenfelder, Anna Gooch, Zhuma Hu, Jon Ahlstrom, Ping Zhang
Novel interventions that reestablish endogenous insulin secretion and thereby halt progressive end-organ damage and prolong survival of patients with autoimmune Type 1 diabetes mellitus (T1DM) are urgently needed. While this is currently accomplished with allogeneic pancreas or islet transplants, their utility is significantly limited by both the scarcity of organ donors and life-long need for often-toxic antirejection drugs. Coadministering islets with bone marrow-derived mesenchymal stem cells (MSCs) that exert robust immune-modulating, anti-inflammatory, anti-apoptotic, and angiogenic actions, improves intrahepatic islet survival and function...
May 3, 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28446206/cooperation-of-neurotrophin-receptor-trkb-and-her2-in-breast-cancer-cells-facilitates-brain-metastases
#20
Cecilia Choy, Khairul I Ansari, Josh Neman, Sarah Hsu, Matthew J Duenas, Hubert Li, Nagarajan Vaidehi, Rahul Jandial
BACKGROUND: Patients with primary breast cancer that is positive for human epidermal growth factor receptor 2 (Her2+) have a high risk of developing metastases in the brain. Despite gains with systemic control of Her2+ disease using molecular therapies, brain metastases remain recalcitrant to therapeutic discovery. The clinical predilection of Her2+ breast cancer cells to colonize the brain likely relies on paracrine mechanisms. The neural niche poses unique selection pressures, and neoplastic cells that utilize the brain microenvironment may have a survival advantage...
April 26, 2017: Breast Cancer Research: BCR
keyword
keyword
57421
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"