eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | severe combined immunodeficiency |
| Comorbidity | |severe combined immunodefic |
| Sentences | 113 |
| PubMedID- 23135762 | Because chimeric mice have the characteristic of severe combined immunodeficiency, the viral kinetics in chimeric mice sera during ifn treatment could be contributed by the innate immune response of hcv-infected human hepatocytes. |
| PubMedID- 24138807 | The authors suggest that severe combined immunodeficient (scid) mice would be a good model for chronic q fever as immunodeficiency is a risk factor for chronic q fever in humans. |
| PubMedID- 24389287 | Nod/scid (non-obese diabetic/severe combined immunodeficiency) mice were injected with 1.5x106 sk-n-as cells in pbs and matrigel basement membrane matrix (100μm) (bd biosciences, franklin lakes, nj usa) subcutaneously in the left flank. |
| PubMedID- 26045973 | Four- to 6-week-old severe combined immunodeficient (scid) out bred mice (taconic, germantown, ny) was maintained in approved pathogen-free institutional housing. |
| PubMedID- 24487407 | Five- to six-week-old cb-17 severe combined immunodeficiency (scid) male mice (charles river laboratories international, wilmington, ma, usa) had xenograft tumors induced by injecting 1×106 pc3 cells suspended in 50 μl of pbs subcutaneously in the upper hind legs of the animals. |
| PubMedID- 22469436 | A 12-year-old girl with severe combined immunodeficiency was admitted to the freiburg university medical center, germany, in november 2009 for treatment of progressive respiratory problems and cytomegalovirus (cmv) disease. |
| PubMedID- 25944695 | Six- to eight-week-old male cb.17/severe combined immunodeficiency disease (scid) mice were inoculated subcutaneously with 5 × 106 oci-ly7 tumor cells in 0.1 ml pbs for tumor development. |
| PubMedID- 26440411 | Eight-week-old male severe combined immunodeficient (scid) mice were used in all experiments. |
| PubMedID- 20051957 | A total of 20 nod/scid (non-obese diabetic–severe combined immunodeficiency) female mice had 8 × 106 mda-mb-231 breast cancer cells in 100 μl phosphate-buffered saline (pbs; ph 7.4) plus 100 μl of matrigel (bd biosciences, san jose, ca, usa) injected into their left second mammary fat pads. |
| PubMedID- 24402744 | Six-week-old female severe combined immunodeficiency (scid)/cb17 mice were purchased from charles river breeding laboratories (calco, italy), housed under specific pathogen-free conditions in the bl2 containment laboratory in our animal facility, and allowed to acclimate to local conditions for 1 week. |
| PubMedID- 25605016 | Male severe combined immunodeficient (scid) mice, age-matched and 6~8 weeks old, were used in assays for tumor growth and lung metastasis in an orthotopic graft model. |
| PubMedID- 19833883 | Mice deficient for nhej factors other than cernunnos/xlf (4) develop severe combined immunodeficiency due to their failure to join dna breaks generated during early lymphoid development in a dna rearrangement process termed v(d)j recombination (5). |
| PubMedID- 23542179 | Four-week male athymic nod cb17-prkdc/scid (severe combined immunodeficiency) mice were purchased from jackson laboratory and maintained in the animal facilities according to the protocol approved by the american association for accreditation of laboratory animal care. |
| PubMedID- 24587182 | Male cb-17 severe combined immunodeficient (scid) mice (6- to 8-weeks old; harlan laboratories, inc., indianapolis) were housed and monitored in our animal research facility. |
| PubMedID- 21695116 | A variety of mutations are responsible for the scid (severe combined immunodeficiency syndrome) phenotype with a deficiency in different lymphoid cell populations [1]. |
| PubMedID- 26097871 | Six to eight week-old female severe combined immunodeficiency (scid) and balb/c mice were purchased from charles river laboratories (calco, italy), and housed in our specific pathogen free (spf) animal facility. |
| PubMedID- 25961067 | Therefore, experiment 1 compared the water-maze performance of il-2 congenic mice on the severe combined immunodeficient (scid) background that we have bred in our colony, and have used in previous studies to disentangle the effects of the loss of brain-derived il-2 from peripheral il-2 on nerve injury and sensorimotor function [15,23]. |
| PubMedID- 25738875 | Six-week-old non-obese diabetic–severe combined immunodeficiency (nod/scid) mice were supplied by the national laboratory animal center, taipei, taiwan, and housed in specific pathogen-free animal rooms. |
| PubMedID- 24799913 | Hypomorphic variants of rag genes with null mutations cause severe combined immunodeficiency (scid) as was found in an increasing number of patients with combined immunodeficiency [20]. |
| PubMedID- 24189293 | The severe combined immunodeficiency (scid)-repopulating cell (src) xenotransplantation assay provides a gold standard surrogate assay for human hscs.11 a number of studies using xenograft assays demonstrated that the bone marrow (bm)- and cord blood (cb)-derived primitive human hscs are enriched in the lin−cd34+cd38− population.2, 3, 4, 11, 12, 13, 14 it was also reported that the lin−cd34+cd38−cd90+cd45ra− cb fraction contains primitive hscs, and this activity has been isolated to as few as 10 purified cells.15 recently, notta et al.16 published an informative study showing that cb-derived single lin−cd34+cd38−cd45ra−thy1+rholocd49f+ cells were highly efficient in generating long-term multilineage engraftment in nod-scid-il-2rγc−/− mice,16 providing strong evidence that primitive human cd34+cd38− hscs express cd49f. |
| PubMedID- 21067584 | By means of a non-obese diabetic/severe combined immunodeficiency disease (nod/scid) xenotransplant assay in combination with specific cell surface markers (cd44+cd24-/low), cscs were enriched from metastatic and primary breast tumors and were shown to have the ability to reestablish tumor heterogeneity after transplantation [1]. |
| PubMedID- 25972190 | Severe acquired immunodeficiencies (e.g., uncontrolled hiv or severe combined immunodeficiency) or genetic defects in the il-23/th17 pathway can increase patients' susceptibility to a number of syndromes that are all associated with chronic or recurrent mucosal or skin infections with candida albicans (table 1; puel et al., 2010b; hanna and etzioni, 2011; huppler et al., 2012). |
| PubMedID- 24083030 | severe combined immunodeficiency (scid) or nude mice (charles river laboratories, wilmington, ma), approximately 4–6 weeks of age and weighing approximately 30 g received subcutaneous (sc) tumor implants performed using various ratios of gfp expressing sk-n-sh wild type cells (sk-n-sh gfp-wt) and sk-n-sh doxorubicin drug-resistant cells (sk-n-sh doxr) or sk-n-sh hmk (sk-n-sh hmk) cells with a total of 106 cells in 100 μl per implant. |
| PubMedID- 25859981 | Male severe combined immunodeficient (scid) mice were included in the study at 4–6 weeks of age. |
| PubMedID- 21609494 | Eight to sixteen week old female c57bl/6 mice and c57bl/6 severe combined immunodeficient (scid) mice (charles river laboratories, wilmington, ma) were used in protocols approved by the institutional review board of the university of pennsylvania. |
| PubMedID- 25806119 | Non-obese diabetic/severe combined immunodeficient (nod/scid) female mice 8-10 weeks of age were anesthetized and received a flank subcutaneous injection of 1×106 cultured l0 gbm cells in 200 µl of medium and 100 µl of matrigel (bd). |
| PubMedID- 23264026 | severe combined immunodeficiency (scid), characterized by extremely low or absent t cell production, defective t cell function and absent antibody responses, can be caused by defects in any of several genes and if untreated leads to early death due to infections [1, 2]. |
| PubMedID- 24076575 | severe combined immunodeficiency due to adenosine-deaminase defect (ada-scid) is usually deadly in childhood because of severe recurrent infections. |
| PubMedID- 24318653 | Next, we utilized the severe combined immunodeficiency (nod-scid) mouse model and injected lymphoma cells with or without stromal cells and observed a more robust growth of tumor in mice receiving hk and lymphoma cells[7]. |
| PubMedID- 20668627 | Ada deficiency is the major metabolic cause of severe combined immunodeficiency disease.31,32 ada is important for the development of the immune system in humans. |
| PubMedID- 20498638 | Non-obese diabetic/severe combined immunodeficient/interleukin-2 receptor γ-chain-deficient mice were used in all experiments. |
| PubMedID- 22745542 | Thirteen 8-week-old male nonobese diabetic severe combined immunodeficient gamma mice were purchased from jackson laboratory (indianapolis, in) and used to generate the orthotopic model. |
| PubMedID- 24454751 | Nonobese diabetic/severe combined immunodeficiency (nod/scid) mice (sankyo-lab service, tsukuba, japan) were bred and maintained in accordance with our institutional guidelines for the use of laboratory animals. |
| PubMedID- 22111002 | Scid micesevere combined immunodeficiency (scid) is a rare disease in which the affected organism is unable to mount an immune response due to loss of b and t lymphocytes. |
| PubMedID- 22174689 | The absence of cd45 leads to a severe combined immunodeficiency (scid) phenotype in humans [31]–[33] and mice [34]–[36]. |
| PubMedID- 22111066 | Three severe combined immunodeficiency (scid) mice (males, 6 weeks old) were injected with a suspension of 1×109 cells/ml in the back; however, no tumor formation was observed after 6 weeks. |
| PubMedID- 24466340 | Lastly, mutations of dna-pkcs cause severe combined immunodeficiency in mice [17], [18], [19], [20]. |
| PubMedID- 21544519 | severe combined immunodeficiency (scid) is part of the differential diagnosis of cd40l deficiency (van der burg m, gennery a, the expanding spectrum of severe combined immunodeficiency, ejp in press), but in contrast to most cases of scid, analysis of lymphocyte subpopulation in pad patients will show normal t cell counts. |
| PubMedID- 24683542 | Male cb-17 severe combined immunodeficient (scid) mice (6- to 8-week old; harlan laboratories, inc., indianapolis) were housed and monitored in our animal research facility. |
| PubMedID- 24497838 | severe combined immunodeficiency (scid) beige mice were maintained in a pathogen–free environment under controlled conditions of light and humidity. |
| PubMedID- 20427943 | severe combined immunodeficiency (scid) is a primary immunodeficiency disorder with heterogeneous genetic etiologies, characterized by a profound defect in both t and b lymphocytes.12 affected individuals usually present in early infancy with severe and persistent infections.3 without hematopoietic stem cell transplantation (hsct) or gene therapy, most patients die in early childhood.45 transplacentally derived maternal t lymphocytes are frequently detected in healthy newborns; however, they are rapidly eliminated by immune competent t lymphocytes.67 on the contrary, scid infants do not usually reject maternally engrafted cells; therefore maternal t cells were detected in 24% to 40% of patients undergoing hematopoietic stem cell transplantation.89 since these t cells are usually non-functional, they do not alter the course of the disease and patients present typically in early infancy with severe infection.9 we present a typical case of scid masked by a clinically functional maternal t-cell engraftment leading to late presentation of the disease at the age of 9 years with pneumocystis jiroveci pneumonia (pjp) and cytomegalovirus (cmv) infections, probably following exhaustion of maternally engrafted t lymphocytes. |
| PubMedID- 24533454 | severe combined immunodeficient (scid) mice (5-7-week-old male cb.17.scid; charles river, wilmington, ma) were anesthetized with ketamine and xylazine, and 2 scaffolds were implanted in the subcutaneous space of the dorsal region of each mouse, i.e. |
| PubMedID- PMC4407161 | Os characterized by symptoms of severe combined immunodeficiency (scid), in association with the cardinal triad of hepatosplenomegaly, lymphadenopathy and erythroderma. |
| PubMedID- 24198507 | severe combined immunodeficiencies (scid) are a set of diseases caused by monogenic disorders that impair t-cell development and, depending on the gene implicated, can be associated with faults in the development of other hematopoietic lineages. |
| PubMedID- 25773070 | Non obese diabetic/severe combined immunodeficient (nod/scid) janus kinase 3 knockout (noj) mice26 were anesthetized by isoflurane and placed in the supine position. |
| PubMedID- 21973190 | The nonobese diabetic/severe combined immunodeficient (nod/scid, nod-cb17-prkdcscid/j) mice, purchased from jackson laboratory (bar harbor, me, usa), were raised in a pathogen-free environment in filtered cages. |
| PubMedID- 23150174 | Six-week-old severe combined immunodeficient (scid) male mice (n = 30) were injected with hek293 cd133high and cd133low transfectants subcutaneously into the right and left flanks of the same mouse, respectively (5 × 103, 1 × 105, or 5 × 106 cells per injection in 100 μl medium and 100 μl matrigel, bd pharmingen). |
| PubMedID- 19934002 | Showed that severe combined immunodeficient patients who successfully received a transplant of hla-mismatched hematopoietic stem cells have circulating host-reactive t-cell clones producing high levels of il-10 in the absence of il-4. |
| PubMedID- 24447304 | Eight week old female nonobese diabetic/severe combined immunodeficiency mice (nod/scid; harlan, in) were used as hosts for tumor xenografts. |
| PubMedID- 20298547 | T cells or b cells, transferred from arthritic balb/c mice to severe combined immunodeficient (scid) mice, are detectable by in vivo imaging in the popliteal lymph nodes (lns) but not in the joints of the recipient mice. |