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Severe combined immunodeficiency

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https://www.readbyqxmd.com/read/29761856/autoimmune-thyroiditis-following-hla-matched-sibling-hematopoietic-stem-cell-transplantation-for-wiskott-aldrich-syndrome
#1
Tristan Knight, Katherine Kotz, Süreyya Savaşan
WAS is a fatal X-linked combined immunodeficiency syndrome, the only cures for which are HSCT or gene therapy. AID occur in up to 72% of patients with WAS who do not receive HSCT, likely arising secondary to impaired multilineage immune autoregulatory function; AITD is not typically seen. In this article, we describe the case of a male patient who underwent HLA-matched HSCT for WAS at the age of 5 months, with his sister (a WAS carrier) acting as his donor and subsequently developed AITD 12 months post-transplant, with marked elevation of antithyroid peroxidase antibody titer...
May 15, 2018: Pediatric Transplantation
https://www.readbyqxmd.com/read/29757593/severe-combined-immunodeficiency-a-case-series-and-review-from-a-tertiary-pediatric-hospital
#2
Shahrzad Fallah, Mehrnaz Mesdaghi, Mahboubeh Mansouri, Delara Babaei, Abdollah Karimi, Seyed Alireza Fahimzad, Shahnaz Armin, Sedigheh Rafiei Tabatabaei, Roxana Azma, Ghamartaj Khanbabaee, Bahram Bashardoost, Mehrdad Amirmoeini, Saeed Sadr, Rozita Jalilianhasanpour, Roxana Ghanaei, Nima Rezaei, Zahra Chavoshzadeh
Severe combined immunodeficiency syndrome (SCID) is a life-threatening condition leading to early infant death as a result of severe infection, due to impaired cellular and humoral immune systems. Various forms of SCID are classified based on the presence or absence of T cells, B cells and natural killer cells. Patients usually present with recurrent infections and failure to thrive. Definitive treatment is hematopoietic stem cell transplantation. To achieve the best outcome, it should be performed prior to the development of severe infection...
April 2018: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/29753156/antiviral-t-cells-for-adenovirus-in-the-pre-transplant-period-a-bridge-therapy-for-severe-combined-immunodeficiency
#3
Holly K Miller, Patrick J Hanley, Haili Lang, Christopher A Lazarski, Elizabeth A Chorvinsky, Sarah McCormack, Lauren Roesch, Shuroug Albihani, Marcus Dean, Fahmida Hoq, Roberta H Adams, Catherine Bollard, Michael D Keller
Viral infections can be life-threatening in patients with severe combined immunodeficiency (SCID) and other forms of profound primary immunodeficiency disorders both before and after hematopoietic stem cell transplant (HSCT). Adoptive immunotherapy with virus-specific T-cells (VST) has been utilized in many patients in the setting of HSCT, but has very rarely been attempted for treatment of viral infections before HSCT. Here we describe the use of VSTs in an infant with RAG1 SCID who had developed disseminated adenovirus which failed to improve on cidofovir...
May 9, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29750890/impact-of-age-on-disease-progression-and-microenvironment-in-oral-cancer
#4
V K Vincent-Chong, H DeJong, L J Rich, A Patti, M Merzianu, P A Hershberger, M Seshadri
Despite the recognized link between aging and cancer, most preclinical studies in experimental tumor models are conducted with 6- to 8-wk-old rodents. The goal of the present study was to examine the impact of age on tumor incidence, growth, and microenvironmental characteristics in mouse models of head and neck squamous cell carcinoma (HNSCC). Experimental studies were conducted with the 4-nitroquinoline-oxide (4NQO) oral carcinogenesis model and orthotopic FaDu HNSCC xenografts, established in young (7 to 12 wk of age) and old (65 to 70 wk of age) female C57BL/6 mice ( n = 44; 4NQO model) and severe combined immunodeficient mice ( n = 13; HNSCC xenografts)...
May 1, 2018: Journal of Dental Research
https://www.readbyqxmd.com/read/29750804/temporal-compartmental-changes-in-viral-rna-and-neuronal-injury-in-a-primate-model-of-neuroaids
#5
R Gilberto González, Robert Fell, Julian He, Jennifer Campbell, Tricia H Burdo, Patrick Autissier, Lakshmanan Annamalai, Faramarz Taheri, Termara Parker, Jeffrey D Lifson, Elkan F Halpern, Mark Vangel, Eliezer Masliah, Susan V Westmoreland, Kenneth C Williams, Eva-Maria Ratai
Despite the advent of highly active anti-retroviral therapy HIV-associated neurocognitive disorders (HAND) continue to be a significant problem. Furthermore, the precise pathogenesis of this neurodegeneration is still unclear. The objective of this study was to examine the relationship between infection by the simian immunodeficiency virus (SIV) and neuronal injury in the rhesus macaque using in vivo and postmortem sampling techniques. The effect of SIV infection in 23 adult rhesus macaques was investigated using an accelerated NeuroAIDS model...
2018: PloS One
https://www.readbyqxmd.com/read/29750285/updates-in-newborn-screening
#6
Farrah Rajabi
Newborn screening in the United States is an important public health measure to provide early detection for specified disorders when early treatment is both possible and beneficial. As technology improves, newborn screening can be offered for many more conditions. In the past 10 years, screening has expanded to include severe combined immunodeficiency, congenital heart disease, lysosomal storage disease, and X-linked adrenoleukodystrophy. This article reviews the current state of newborn screening with updates on recent developments...
May 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29749587/newborn-screening-for-severe-combined-immunodeficiency
#7
REVIEW
John Routes, James Verbsky
PURPOSE OF REVIEW: This review provides a brief history of newborn screening (NBS) for severe combined immunodeficiency (SCID), discusses the theoretical basis for the T cell receptor excision circle (TREC) assay, highlights the results of recent studies using the TREC, and provides practical advice for the evaluation of infants with an abnormal TREC assay. RECENT FINDINGS: Currently, all but three states perform NBS for SCID in the USA. NBS using the TREC assay is highly sensitive in identifying infants with SCID and may also identify infants with T cell lymphopenia due to other causes such as congenital syndromes, multiple congenital anamolies, and some combined immunodeficiencies...
May 10, 2018: Current Allergy and Asthma Reports
https://www.readbyqxmd.com/read/29749435/spag6-silencing-induces-apoptosis-in-the-myelodysplastic-syndrome-cell-line-skm%C3%A2-1-via-the-pten-pi3k-akt-signaling-pathway-in-vitro-and-in-vivo
#8
Jiaxiu Yin, Xinxin Li, Zaili Zhang, Xiaohua Luo, Li Wang, Lin Liu
Apoptosis is a multi-step mechanism of cell self‑destruction for maintaining cellular homeostatic balance. Accumulating evidence indicates that abnormal apoptosis promotes the evolution and progression of myelodysplastic syndromes (MDS). As a novel cancer-testis antigen, sperm‑associated antigen 6 (SPAG6) has been reported to regulate apoptosis through the tumor necrosis factor-related apoptosis-inducing ligand signaling pathway in the MDS cell line SKM‑1. However, the mechanism of the intrinsic cell death pathway for apoptosis induction by SPAG6 silencing is unclear...
May 2, 2018: International Journal of Oncology
https://www.readbyqxmd.com/read/29742062/global-perspective-of-novel-therapeutic-strategies-for-the-management-of-neuroaids
#9
Swatantra Kumar, Vimal K Maurya, Himanshu R Dandu, Madan Lb Bhatt, Shailendra K Saxena
Among Human immunodeficiency virus (HIV) infected individuals, around two-thirds of patients present with neuroAIDS, where HIV-associated neurocognitive disorders (HAND), and HIV-associated dementia (HAD) are the most prevailing neurological complications. The neuropathology of neuroAIDS can be characterized by the presence of HIV infected macrophages and microglia in the brain, with the formation of multinucleated giant cells. Global predominant subtypes of HIV-1 clade B and C infections influence the differential effect of immune and neuronal dysfunctions, leading to clade-specific clinical variation in neuroAIDS patient cohorts...
May 8, 2018: Biomolecular Concepts
https://www.readbyqxmd.com/read/29739091/different-biological-characteristics-of-macrophages-from-balb-c-mice-and-severe-combined-immunodeficient-mice
#10
Chong Luo, Yu Zhang, Xuemei Tang, Lan Yao, Yating Wang, Xiqiang Yang
BACKGROUND: Our previous research has found that absence of lymphocytes during development may affect innate activity of immune cells. To better understand the effect of lymphocyte defects on macrophages during development, we compared the biological characteristics of peritoneal macrophages (PMa) from BALB/c and severe combined immunodeficient (SCID) mice. METHODS: Cytokines such as TNF-α, IL-6, and IL-10 produced by PMa and mRNA of those cytokines of PMa, phagocytosis of chicken red cells by PMa, and cell surface markers of PMa from BALB/c and SCID mice were tested...
April 1, 2018: Clinical Laboratory
https://www.readbyqxmd.com/read/29737242/bms-493-modulates-retinoic-acid-induced-differentiation-during-expansion-of-human-hematopoietic-progenitor-cells-for-islet-regeneration
#11
Ruth Marise Elgamal, Gillian I Bell, Sarah Krause, David A Hess
Cellular therapies are emerging as a novel treatment strategy for diabetes. Thus, the induction of endogenous islet regeneration in situ represents a feasible goal for diabetes therapy. Umbilical cord blood (UCB)-derived hematopoietic progenitor cells (HPC) isolated by high aldehyde dehydrogenase activity (ALDH<sup>hi</sup>) have previously been shown to reduce hyperglycemia after intrapancreatic (iPan) transplantation into streptozotocin (STZ)-treated non-obese diabetic (NOD) severe combined immunodeficient (SCID) mice...
May 8, 2018: Stem Cells and Development
https://www.readbyqxmd.com/read/29737200/human-peripheral-blood-mononuclear-cells-incubated-in-vasculogenic-conditioning-medium-dramatically-improve-ischemia-reperfusion-acute-kidney-injury-in-mice
#12
Takayasu Ohtake, Shuzo Kobayashi, Shimon Slavin, Yasuhiro Mochida, Kunihiro Ishioka, Hidekazu Moriya, Sumi Hidaka, Ryo Matsuura, Maki Sumida, Daisuke Katagiri, Eisei Noiri, Kayoko Okada, Hiroshi Mizuno, Rica Tanaka
Acute kidney injury (AKI) is a major clinical problem that still has no established treatment. We investigated the efficacy of cultured human peripheral blood mononuclear cells (PBMNCs) for AKI. Ischemia/reperfusion injury (IRI) was used to induce AKI in male nonobese diabetic (NOD/severe combined immunodeficiency) mice aged 7 to 8 wk. PBMNCs were isolated from healthy volunteers and were subjected to quality and quantity controlled (QQc) culture for 7 d in medium containing stem cell factor, thrombopoietin, Flt-3 ligand, vascular endothelial growth factor, and interleukin 6...
January 1, 2018: Cell Transplantation
https://www.readbyqxmd.com/read/29731008/molecular-classification-of-primary-immunodeficiencies-of-t-lymphocytes
#13
William A Comrie, Michael J Lenardo
Proper regulation of the immune system is required for protection against pathogens and preventing autoimmune disorders. Inborn errors of the immune system due to inherited or de novo germline mutations can lead to the loss of protective immunity, aberrant immune homeostasis, and the development of autoimmune disease, or combinations of these. Forward genetic screens involving clinical material from patients with primary immunodeficiencies (PIDs) can vary in severity from life-threatening disease affecting multiple cell types and organs to relatively mild disease with susceptibility to a limited range of pathogens or mild autoimmune conditions...
2018: Advances in Immunology
https://www.readbyqxmd.com/read/29728406/b-cell-differentiation-and-il-21-response-in-il2rg-jak3-scid-patients-after-hematopoietic-stem-cell-transplantation
#14
Alexandra M Miggelbrink, Brent R Logan, Rebecca H Buckley, Roberta E Parrott, Christopher C Dvorak, Neena Kapoor, Hisham Abdel-Azim, Susan E Prockop, David Shyr, Hélène Decaluwe, Imelda C Hanson, Alfred Gillio, Blachy J Dávila Saldaña, Hermann Eibel, Gregory Hopkins, Jolan E Walter, Jennifer S Whangbo, Donald B Kohn, Jennifer M Puck, Morton J Cowan, Linda M Griffith, Elie Haddad, Richard J O'Reilly, Luigi D Notarangelo, Sung-Yun Pai
Allogeneic hematopoietic stem cell transplant (HSCT) typically results in donor T cell engraftment and function in patients with severe combined immunodeficiency (SCID), but humoral immunity, particularly when using donors other than matched siblings, is variable. B cell function after HSCT for SCID depends on the genetic cause, the use of pre-HSCT conditioning and whether donor B cell chimerism is achieved. Patients with defects in IL2RG or JAK3 undergoing HSCT without conditioning often have poor B cell function post-HSCT, perhaps due to impairment of IL-21 signaling in host-derived B cells...
May 4, 2018: Blood
https://www.readbyqxmd.com/read/29722336/mitochondrial-autophagy-and-nlrp3-inflammasome-in-pulmonary-tissues-from-severe-combined-immunodeficient-mice-after-cardiac-arrest-and-cardiopulmonary-resuscitation
#15
Jing-Jun Lyu, Jawahar L Mehta, Yi Li, Lu Ye, Sheng-Nan Sun, Hong-Shuang Sun, Jia-Chang Li, Dong-Mei Zhang, Jie Wei
Background: The incidence of cancer, diabetes, and autoimmune diseases has been increasing. Furthermore, there are more and more patients with solid organ transplants. The survival rate of these immunocompromised individuals is extremely low when they are severely hit-on. In this study, we established cardiac arrest cardiopulmonary resuscitation (CPR) model in severe combined immunodeficient (SCID) mice, analyzed the expression and activation of mitochondrial autophagy and NLRP3 inflammasome/caspase-1, and explored mitochondrial repair and inflammatory injury in immunodeficiency individual during systemic ischemia-reperfusion injury...
May 20, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29720491/rapid-immune-reconstitution-of-scid-x1-canines-after-g-csf-amd3100-mobilization-and-in-vivo-gene-therapy
#16
Olivier Humbert, Frieda Chan, Yogendra S Rajawat, Troy R Torgerson, Christopher R Burtner, Nicholas W Hubbard, Daniel Humphrys, Zachary K Norgaard, Patricia O'Donnell, Jennifer E Adair, Grant D Trobridge, Andrew M Scharenberg, Peter J Felsburg, David J Rawlings, Hans-Peter Kiem
Hematopoietic stem-cell gene therapy is a promising treatment of X-linked severe combined immunodeficiency disease (SCID-X1), but currently, it requires recipient conditioning, extensive cell manipulation, and sophisticated facilities. With these limitations in mind, we explored a simpler therapeutic approach to SCID-X1 treatment by direct IV administration of foamy virus (FV) vectors in the canine model. FV vectors were used because they have a favorable integration site profile and are resistant to serum inactivation...
May 8, 2018: Blood Advances
https://www.readbyqxmd.com/read/29713328/high-incidence-of-severe-combined-immunodeficiency-disease-in-saudi-arabia-detected-through-combined-t-cell-receptor-excision-circle-and-next-generation-sequencing-of-newborn-dried-blood-spots
#17
Hamoud Al-Mousa, Ghadah Al-Dakheel, Amal Jabr, Fahd Elbadaoui, Mohamed Abouelhoda, Mansoor Baig, Dorota Monies, Brian Meyer, Abbas Hawwari, Majed Dasouki
Severe combined immunodeficiency disease (SCID) is the most severe form of primary immunodeficiency disorders (PID). T-cell receptor excision circle (TREC) copy number analysis is an efficient tool for population-based newborn screening (NBS) for SCID and other T cell lymphopenias. We sought to assess the incidence of SCID among Saudi newborn population and examine the feasibility of using targeted next generation sequencing PID gene panel (T-NGS PID) on DNA isolated from dried blood spots (DBSs) in routine NBS programs as a mutation screening tool for samples with low TREC count...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29707600/preclinical-development-of-a-lentiviral-vector-for-gene-therapy-of-x-linked-severe-combined-immunodeficiency
#18
Valentina Poletti, Sabine Charrier, Guillaume Corre, Bernard Gjata, Alban Vignaud, Fang Zhang, Michael Rothe, Axel Schambach, H Bobby Gaspar, Adrian J Thrasher, Fulvio Mavilio
X-linked severe combined immunodeficiency (SCID-X1) is caused by mutations in the interleukin-2 receptor γ chain gene (IL2RG), and it is characterized by profound defects in T, B, and natural killer (NK) cell functions. Transplantation of hematopoietic stem/progenitor cells (HSPCs) genetically corrected with early murine leukemia retrovirus (MLV)-derived gammaretroviral vectors showed restoration of T cell immunity in patients, but it resulted in vector-induced insertional oncogenesis. We developed a self-inactivating (SIN) lentiviral vector carrying a codon-optimized human IL2RG cDNA driven by the EF1α short promoter (EFS-IL2RG), and we tested its efficacy and safety in vivo by transplanting transduced Il2rg-deficient Lin- HSPCs in an Il2rg -/- / Rag2 -/- mouse model...
June 15, 2018: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/29707388/risk-factors-and-co-morbidities-associated-with-changes-in-renal-function-among-antiretroviral-treatment-na%C3%A3-ve-adults-in-south-africa-a-chart-review
#19
Shirelle Assaram, Tivani P Mashamba-Thompson, Nombulelo P Magula
Introduction: Our systematic scoping review has demonstrated a research gap in antiretroviral treatment (ART) nephrotoxicity as well as in the long-term outcomes of renal function for patients on ART in South Africa. Bearing in mind the high prevalence of human immunodeficiency virus (HIV) in South Africa, this is of great concern. Objectives: To determine the risk factors and co-morbidities associated with changes in renal function in HIV-infected adults in South Africa...
2018: Southern African Journal of HIV Medicine
https://www.readbyqxmd.com/read/29694716/anal-cytological-lesions-and-hpv-infection-in-individuals-at-increased-risk-for-anal-cancer
#20
Maria Gabriella Donà, Maria Benevolo, Alessandra Latini, Francesca Rollo, Manuela Colafigli, Mirko Frasca, Mauro Zaccarelli, Amalia Giglio, Domenico Moretto, Edoardo Pescarmona, Antonio Cristaudo, Massimo Giuliani
BACKGROUND: Anal cytology may be useful for evaluating lesions associated with human papillomavirus (HPV) in individuals at increased risk for anal cancer. METHODS: Liquid-based cytology was used to assess anal cytological lesions among human immunodeficiency virus (HIV)-infected and HIV-uninfected men who have sex with men (MSM). The Linear Array HPV genotyping test was used for HPV detection. RESULTS: This cross-sectional study included 1021 MSM, of whom 388 were HIV-infected (38...
April 25, 2018: Cancer Cytopathology
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