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Severe combined immunodeficiency

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https://www.readbyqxmd.com/read/27912315/genetics-of-infectious-and-inflammatory-diseases-overlapping-discoveries-from-association-and-exome-sequencing-studies
#1
David Langlais, Nassima Fodil, Philippe Gros
Genome technologies have defined a complex genetic architecture in major infectious, inflammatory, and autoimmune disorders. High density marker arrays and Immunochips have powered genome-wide association studies (GWAS) that have mapped nearly 450 genetic risk loci in 22 major inflammatory diseases, including a core of common genes that play a central role in pathological inflammation. Whole-exome and whole-genome sequencing have identified more than 265 genes in which mutations cause primary immunodeficiencies and rare forms of severe inflammatory bowel disease...
December 1, 2016: Annual Review of Immunology
https://www.readbyqxmd.com/read/27896807/fdg-pet-ct-imaging-of-therapeutic-response-in-granulomatous-lymphocytic-interstitial-lung-disease-glild-in-common-variable-immunodeficiency-cvid
#2
S Jolles, E Carne, M Brouns, T El-Shanawany, P Williams, C Marshall, P Fielding
Common variable immunodeficiency (CVID) is the most common severe adult primary immunodeficiency and is characterized by a failure to produce antibodies leading to recurrent predominantly sinopulmonary infections. Improvements in the prevention and treatment of infection with immunoglobulin replacement and antibiotics have resulted in malignancy, autoimmune, inflammatory and lymphoproliferative disorders emerging as major clinical challenges in the management of patients who have CVID. In a proportion of CVID patients, inflammation manifests as granulomas that frequently involve the lungs, lymph nodes, spleen and liver and may affect almost any organ...
November 28, 2016: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/27894450/immunodeficiency-presenting-as-an-undiagnosed-disease
#3
REVIEW
John M Routes, James W Verbsky
Although primary immunodeficiencies typically present with recurrent, chronic, or severe infections, autoimmune manifestations frequently accompany these disorders and may be the initial clinical manifestations. The presence of 2 or more autoimmune disorders, unusual severe atopic disease, or a combination of these disorders should lead a clinician to consider primary immunodeficiency disorders.
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27890707/novel-mutation-in-dock8-hies-with-severe-phenotype-and-successful-transplantation
#4
Latifa Al Shekaili, Farrukh Sheikh, Sulaiman Al Gazlan, Hasan Al Dhekri, Hamoud Al Mousa, Abdulaziz Al Ghonaium, Bander Al Saud, Saleh Al Mohsen, Agha M Rehan Khaliq, Safiah Al Sumayli, Mufarreh Al Zahrani, Anas Dababo, Ammar AlKawi, Abbas Hawwari, Rand Arnaout
BACKGROUND: Hyper-IgE syndrome (HIES) due to DOCK8 deficiency is an autosomal recessive (AR) primary combined immunodeficiency which results in significant morbidity and mortality at a young age. Different mutations in the DOCK8 gene can lead to variable severity of the disease. OBJECTIVE: We evaluated the genetic mutations in three related patients with severe clinical manifestations suggestive of AR HIES. We also explored whether treatment with stem cell transplantation could lead to complete disease resolution...
November 23, 2016: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/27890234/current-status-of-dedicator-of-cytokinesis-associated-immunodeficiency-dock8-and-dock2
#5
REVIEW
Dimana Dimitrova, Alexandra F Freeman
DOCK8 deficiency is an autosomal recessive combined immunodeficiency disease associated with elevated IgE, atopy, recurrent sinopulmonary and cutaneous viral infections, and malignancy. The DOCK8 protein is critical for cytoskeletal organization, and deficiency impairs dendritic cell transmigration, T-cell survival, and NK cell cytotoxicity. Early hematopoietic stem cell transplantation is gaining prominence as a definitive treatment given the potential for severe complications and mortality in this disease...
January 2017: Dermatologic Clinics
https://www.readbyqxmd.com/read/27884168/ataxia-telangiectasia-a-review
#6
REVIEW
Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A Lefton-Greif, Sharon A McGrath-Morrow, Thomas O Crawford, Howard M Lederman
DEFINITION OF THE DISEASE: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome. EPIDEMIOLOGY: The world-wide prevalence of A-T is estimated to be between 1 in 40,000 and 1 in 100,000 live births. CLINICAL DESCRIPTION: A-T is a complex disorder with substantial variability in the severity of features between affected individuals, and at different ages...
November 25, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27881652/inhibition-of-human-cytomegalovirus-pul89-terminase-subunit-blocks-virus-replication-and-genome-cleavage
#7
Yan Wang, Lili Mao, Jayakanth Kankanala, Zhengqiang Wang, Robert J Geraghty
: Human cytomegalovirus terminase complex cleaves the concatemeric genomic DNA into unit lengths during genome packaging and particle assembly. This process is an attractive drug target because cleavage of concatemeric DNA is not required in mammalian cell DNA replication, indicating that drugs targeting the terminase complex could be safe and selective. One component of the human cytomegalovirus terminase complex, pUL89, provides the endonucleolytic activity for genome cleavage and the domain responsible is reported to have an RNase H-like fold...
November 23, 2016: Journal of Virology
https://www.readbyqxmd.com/read/27875026/disseminated-bcg-pneumonitis-revealing-severe-combined-immunodeficiencyxs-in-charge-syndrome
#8
Hyung Young Kim, Yoo-Mi Kim, Hee Ju Park
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, and ear anomalies/deafness) syndrome is a rare genetic disorder caused by CHD7 mutation and is related to immunodeficiency. A 6-month-old girl with right lung agenesis, congenital heart defects, and ear anomalies developed repeated and serious respiratory infection for a short period. She was clinically diagnosed with typical CHARGE syndrome with severe combined immunodeficiency (T-, B+, NK-); however, CHD7 mutation was not detected...
November 22, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27871153/in-vivo-evaluation-of-human-embryonic-stem-cells-isolated-by-57-c11-monoclonal-antibody
#9
Won-Tae Kim, Hyun Min Lee, Min Kyu Kim, Hong Seo Choi, Chun Jeih Ryu
Background: The normal cells derived from human embryonic stem cells (hESCs) are regarded as substitutes for damaged or dysfunctional adult cells. However, tumorigenicity of hESCs remains a major challenge in clinical application of hESC-derived cell transplantation. Previously, we generated monoclonal antibody (MAb) 57-C11 specific to the surface molecule on undifferentiated hESCs. The aim of this study is to prove whether 57-C11-positive hESCs are pluripotent and tumorigenic in immunodeficient mice...
November 30, 2016: International Journal of Stem Cells
https://www.readbyqxmd.com/read/27869441/immunology-update-primary-immunodeficiency-diseases
#10
S Paul Starr
There are 264 primary immunodeficiencies (PIDs), most of which are rare. They are caused by complement deficiencies, defects in phagocyte function, impaired T-cell function, and/or impaired B-cell function with antibody deficiencies. Most patients with PIDs will present, at varying ages, with frequent infections. These infections can be common respiratory tract infections such as otitis media or pneumonia, or they can be unusual bacterial, fungal, or parasitic infections. Neonatal screening for severe combined immunodeficiency syndrome, one of the most common and serious PIDs, is now performed in most US states, but many PIDs manifest and are detected after birth...
November 2016: FP Essentials
https://www.readbyqxmd.com/read/27863512/rheumatoid-synovial-fibroblasts-differentiate-into-distinct-subsets-in-the-presence-of-cytokines-and-cartilage
#11
Adam P Croft, Amy J Naylor, Jennifer L Marshall, Debbie L Hardie, Birgit Zimmermann, Jason Turner, Guillaume Desanti, Holly Adams, Adrian I Yemm, Ulf Müller-Ladner, Jean-Michel Dayer, Elena Neumann, Andrew Filer, Christopher D Buckley
BACKGROUND: We investigated two distinct synovial fibroblast populations that were located preferentially in the lining or sub-lining layers and defined by their expression of either podoplanin (PDPN) or CD248, and explored their ability to undergo self-assembly and transmigration in vivo. METHODS: Synovial fibroblasts (SF) were cultured in vitro and phenotypic changes following stimulation with interleukin (IL)-1β, tumor necrosis factor (TNF)-α, and transforming growth factor (TGF)-β1 were examined...
November 18, 2016: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/27858992/sox12-a-novel-potential-target-for-acute-myeloid-leukaemia
#12
Haixia Wan, Jiayi Cai, Fangyuan Chen, Jianyi Zhu, Jihua Zhong, Hua Zhong
The role of SRY-related high-mobility-group box (SOX) 12 in leukaemia progression and haematopoiesis remains elusive. This study aimed to examine the expression and function of SOX12 in acute myeloid leukaemia (AML) using human myeloid leukaemia samples and the acute myeloid cell line THP1. Mononuclear cells were isolated from the bone marrow of AML patients and healthy donors. SOX12 expression in haematopoietic cells was evaluated by reverse transcription polymerase chain reaction (RT-PCR). SOX12 short hairpin RNAs (shRNAs) were transduced into THP1 cells, and gene knockdown was confirmed by quantitative RT-PCR and Western blot analysis...
November 18, 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27855655/two-hits-in-one-whole-genome-sequencing-unveils-lig4-syndrome-and-urofacial-syndrome-in-a-case-report-of-a-child-with-complex-phenotype
#13
Abeer Fadda, Fiza Butt, Sara Tomei, Sara Deola, Bernice Lo, Amal Robay, Alya Al-Shakaki, Noor Al-Hajri, Ronald Crystal, Marios Kambouris, Ena Wang, Francesco M Marincola, Khalid A Fakhro, Chiara Cugno
BACKGROUND: Ligase IV syndrome, a hereditary disease associated with compromised DNA damage response mechanisms, and Urofacial syndrome, caused by an impairment of neural cell signaling, are both rare genetic disorders, whose reports in literature are limited. We describe the first case combining both disorders in a specific phenotype. CASE PRESENTATION: We report a case of a 7-year old girl presenting with a complex phenotype characterized by multiple congenital abnormalities and dysmorphic features, microcephaly, short stature, combined immunodeficiency and severe vesicoureteral reflux...
November 17, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27836056/vaccination-in-primary-immunodeficiency-disorders
#14
Ali Sobh, Francisco A Bonilla
Immunocompromised patients have increased susceptibility to vaccine-preventable infections. Thus, vaccination is a critical issue in this population. Vaccines are usually classified as live versus inactivated or subunit (nonviable) vaccines. In general, inactivated vaccines are safe in immunocompromised patients and should be given per the routine schedule except when they are unlikely to have any benefit as in severe antibody deficiency or combined immunodeficient patients and patients receiving immunosuppressive therapy or immunoglobulin replacement...
November 2016: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/27833609/a-case-of-il-7r-deficiency-caused-by-a-novel-synonymous-mutation-and-implications-for-mutation-screening-in-scid-diagnosis
#15
Fernando Gallego-Bustos, Valer Gotea, José T Ramos-Amador, Rebeca Rodríguez-Pena, Juana Gil-Herrera, Ana Sastre, Aitor Delmiro, Ghadi Rai, Laura Elnitski, Luis I González-Granado, Luis M Allende
Reported synonymous substitutions are generally non-pathogenic, and rare pathogenic synonymous variants may be disregarded unless there is a high index of suspicion. In a case of IL7 receptor deficiency severe combined immunodeficiency (SCID), the relevance of a non-reported synonymous variant was only suspected through the use of additional in silico computational tools, which focused on the impact of mutations on gene splicing. The pathogenic nature of the variant was confirmed using experimental validation of the effect on mRNA splicing and IL7 pathway function...
2016: Frontiers in Immunology
https://www.readbyqxmd.com/read/27830975/deficiency-of-xlf-and-paxx-prevents-dna-double-strand-break-repair-by-non-homologous-end-joining-in-lymphocytes
#16
Putzer J Hung, Bo-Ruei Chen, Rosmy George, Caleb Liberman, Abigail J Morales, Pedro Colon-Ortiz, Jessica K Tyler, Barry P Sleckman, Andrea L Bredemeyer
Non-homologous end joining (NHEJ) is a major DNA double-strand break (DSB) repair pathway that functions in all phases of the cell cycle. NHEJ repairs genotoxic and physiological DSBs, such as those generated by ionizing radiation and during V(D)J recombination at antigen receptor loci, respectively. DNA end joining by NHEJ relies on the core factors Ku70, Ku80, XRCC4, and DNA Ligase IV. Additional proteins also play important roles in NHEJ. The XRCC4-like factor (XLF) participates in NHEJ through its interaction with XRCC4, and XLF deficiency in humans leads to immunodeficiency and increased sensitivity to ionizing radiation...
November 10, 2016: Cell Cycle
https://www.readbyqxmd.com/read/27830547/propagation-of-human-hepatocytes-in-upa-scid-mice-producing-chimeric-mice-with-humanized-liver
#17
Hiroki Ohshita, Chise Tateno
Primary or cryopreserved human hepatocytes (h-heps) have been used as the gold standard for in vitro metabolism and hepatotoxicity studies; however, the supply of h-heps is limited and they cannot grow in vitro. We achieved approximately 1000-fold propagation of h-heps in the liver of albumin promoter/enhancer-driven urokinase-type plasminogen activator transgenic/severe combined immunodeficiency disease (uPA/SCID) mice with genetically induced liver disease and immunodeficiency. When h-heps are transplanted into the uPA/SCID mouse liver via the spleen, the h-heps engraft in the mouse liver, resulting in its repopulation with h-heps...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27827829/distinct-signaling-programs-control-human-hematopoietic-stem-cell-survival-and-proliferation
#18
David J H F Knapp, Colin A Hammond, Nima Aghaeepour, Paul H Miller, Davide Pellacani, Philip A Beer, Karen Sachs, Wenlian Qiao, WeiJia Wang, R Keith Humphries, Guy Sauvageau, Peter W Zandstra, Sean C Bendall, Garry P Nolan, Carl Hansen, Connie J Eaves
Several growth factors (GFs) that together promote quiescent human hematopoietic stem cell (HSC) expansion ex vivo have been identified. However, the molecular mechanisms by which these GFs regulate the survival, proliferation and differentiation of human HSCs remain poorly understood. We now describe experiments in which we used mass cytometry to simultaneously measure multiple surface markers, transcription factors, active signaling intermediates, viability and cell cycle indicators in single CD34(+) cord blood cells before and up to 2 hours after their stimulation with SCF, FLT3L, IL3, IL6, and G-CSF either alone or combined...
November 8, 2016: Blood
https://www.readbyqxmd.com/read/27820135/foscarnet-related-hypercalcemia-during-cmv-treatment-in-an-infant-with-scid-a-case-report-and-review-of-literature
#19
Shira Rabinowicz, Raz Somech, Yonatan Yeshayahu
Foscarnet is a main treatment for disseminated cytomegalovirus infection in immunocompromised patients. One of its documented side effects is hypocalcemia. Hypercalcemia, in contrast, was described anecdotally before, almost exclusively in adults with human immunodeficiency virus infection or posttransplantation. We describe a case of severe hypercalcemia during foscarnet treatment in an infant with IL-7 Rα deficient severe combined immunodeficiency, resolved after treatment cessation. We speculate that this unusual side effect is caused by foscarnet binding to the inorganic matrix of bone...
November 4, 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27816728/triptolide-inhibits-the-migration-and-invasion-of-rheumatoid-fibroblast-like-synoviocytes-by-blocking-the-activation-of-the-jnk-mapk-pathway
#20
Yanlong Yang, Yujin Ye, Qian Qiu, Youjun Xiao, Mingcheng Huang, Maohua Shi, Liuqin Liang, Xiuyan Yang, Hanshi Xu
Triptolide, a primary active ingredient extracted from a traditional Chinese herb, Tripterygium wilfordii Hook F, has been demonstrated to have a positive therapeutic effect on patients with rheumatoid arthritis (RA); however, its mechanism of action against RA is not well established. Therefore, in the present study, we observed the effect of triptolide on the aggressive behavior of RA fibroblast-like synoviocytes (RA FLSs), and we explored its underlying signal mechanisms. We found that triptolide treatment significantly reduced the migratory and invasive capacities of RA FLSs in vitro...
October 27, 2016: International Immunopharmacology
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