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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease severe combined immunodeficiency
Comorbidity C0085110|severe combined immunodeficiency
Sentences 65
PubMedID- 22174689 The absence of cd45 leads to a severe combined immunodeficiency (scid) phenotype in humans [31]–[33] and mice [34]–[36].
PubMedID- 24116047 Female non-obese diabetic/severe combined immunodeficiency (nod/scid) mice (5 week-old) were purchased (clea japan, inc., osaka, japan), and housed in laminar-flow cabinets under specific pathogen-free conditions.
PubMedID- 20158571 Eight-week-old severe combined immunodeficiency (scid) mice were treated with streptozotocin (stz, 200 mg/kg, sigma) freshly dissolved in 0.025 m sodium citrate (ph 4.0).
PubMedID- 24465715 Six-month-old male, severe combined immunodeficiency (scid) mice were housed in a barrier filter room and fed purina rodent chow ad lib.
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- 22844424 Twenty four five-week old non-obese diabetic/severe combined immunodeficiency (nod/scid) male mice were purchased from the chinese association for laboratory animal science (calas; beijing, china) and housed under specific pathogen-free conditions, in a controlled temperature and humidity environment with 12 h light/dark cycles.
PubMedID- 24670249 Female nod-scid (non-obese diabetic-severe combined immunodeficiency; tzu chi university, hualien, taiwan mice were purchased from jackson lab, bar harbor, me, usa) and housed under specific pathogen-free conditions in the animal center of the institute of cellular and organismic biology of sinica.
PubMedID- 20465788 The spectrum of t cell defects is broad, from severe combined immunodeficiency to signaling defects to specific defects in lymphocyte apoptosis.
PubMedID- 23060872 Immunodeficiencies, such as severe combined immunodeficiency (scid) or intermediate forms of combined immunodeficiency (cid), may present first with gastrointestinal symptoms, often fatal in early childhood if untreated (geha et al., 2007).
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- 20824134 Nonobese diabetic/severe combined immunodeficiency (nod/scid) mice were bred and maintained in the johns hopkins animal core facility.
PubMedID- 21589826 Patients with a complete absence of the thymus (“complete” digeorge syndrome) exhibit severe t-cell immunodeficiency with a severe combined immunodeficiency phenotype requiring immune reconstitution by bone marrow transplantation or thymic transplantation.5–7 however, “complete” digeorge syndrome accounts for <1% of patients.8,9 the majority of patients with 22q11.2 ds and immune defects exhibit mild to moderate deficits in t-cell numbers (so-called “partial” digeorge syndrome).
PubMedID- PMC4407161 Os characterized by symptoms of severe combined immunodeficiency (scid), in association with the cardinal triad of hepatosplenomegaly, lymphadenopathy and erythroderma.
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- 21233838 The development of the scid (severe combined immunodeficiency)-hu model has been an important advance, as it was the first model to recapitulate a hubmm in mice.4, 5, 6 however, although the scid-hu system remains a highly relevant model for preclinical investigation, it does have important limitations: (i) restricted availability of human fetal bone chips; (ii) the allogeneic nature of the fetal bm milieu versus mm cells; and (iii) the significant heterogeneity of implanted human bone chips, collected from different individuals at different gestational age, that may produce experimental variability.
PubMedID- 21170549 An effective diagnostic strategy should be able to quickly identify pids with rapidly fatal complications like severe combined immunodeficiency (scid) and to limit diagnostic delay in children with pids with a more protracted course like common variable immunodeficiency disorders (cvids), who may develop bronchiectasis with pulmonary disability [15] and decreased life span if treatment is delayed.
PubMedID- 21379384 severe combined immunodeficiency (scid) mice, first successfully established in 1983 by bosma et al.
PubMedID- 20226009 Scid (severe combined immunodeficiency) mice were maintained in a specific pathogen-free environment in compliance with institutional policy and all animal procedures were previously approved by the iacuc (institutional animal care and use committee) at taipei medical university.
PubMedID- 24198970 Hyper-ige and wiskott-aldrich syndromes, cd40l deficiency, severe combined immunodeficiency, x-linked agammaglobulinemia, transient hypogammaglobulinemia of infancy, and chronic granulomatous disease were diagnosed in these children.
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- 22111002 severe 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- 24776983 severe combined immunodeficiency (scid) mice, which are deficient in t and b cells, appear to be resistant to the enteropathic effects of seb.
PubMedID- 20547828 Affected patients manifest with symptoms of severe combined immunodeficiency (scid), including an increased occurrence of life-threatening infections, failure to thrive, and, in particular, autoimmune-like clinical features including early-onset severe erythrodermia, alopecia, hepato-splenomegaly, and lymphadenopathy (omenn, 1965; ochs et al., 1974).
PubMedID- 21573181 Immunodeficient non obese diabetous/shi-severe combined immunodeficiency/interleukin-2rγnull (nog) mice were injected with pm7 and ags mixed at a ratio of 8∶1 (2 250 000 and 375 000 cells, respectively) resuspended in 200 µl of 7 mg/ml matrigel (bd biosciences) in ice cold pbs.
PubMedID- 22941246 Adult nonobese diabetic/severe combined immunodeficiency interleukin 2 receptor gamma chain knock out (nsg) mice (jackson laboratories, bar harbor, me), were used for in vivo experiments according to protocols approved by the institutional animal care and use committee of university of california los angeles.
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- 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- 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- 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- 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- 21750681 The recessive defect ‘severe combined immunodeficiency’ (scid), which is found in the arabian breed, comprises a fatal deficiency in t- and b-lymphocyte numbers and function.
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- 25346775 Adoptive immunization of severe combined immunodeficiency mice with t cells from 2d2 live-attenuated bpm mutant-immunized mice resulted in increased survival compared to naïve t cell recipients.
PubMedID- 22567029 Children with severe combined immunodeficiency can develop bcgosis after bcg immunization as a result of their deficient immune system, which clearly illustrates that vaccinations should only be performed in immunocompetent individuals [20].
PubMedID- 25942583 Sixteen severe combined immunodeficiency (cb17/scid) mice obtained from charles river (wilmington, ma) were housed in an animal care facility and held for 10 days to acclimatize.
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- 24723986 The xenograft tumor volume of the severe combined immunodeficiency (scid) mice after 20 day treatment with the plga nanoparticles formulation combined with 3-methyladenine or chloroquine are found to be only about a half in comparison with the plga nanoparticles formulation only 58. thus, the incorporation of autophagy inhibitor in future theranostic platform, can improve the co-delivery of diagnostic and therapeutic agent.
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- 24447304 Eight week old female nonobese diabetic/severe combined immunodeficiency mice (nod/scid; harlan, in) were used as hosts for tumor xenografts.
PubMedID- 22829152 The leukemic non-obese diabetic/severe combined immunodeficiency (nod/scid) mouse system with the in vivo combination treatment with imatinib and everolimus showed a decrease of tumor burden including cd34+ cells.
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- 24728301 The 6- to 8-week old male nod-scid mice (non-obese diabetes severe combined immunodeficiency mice) were used to evaluate the in vivo meta-static behavior of tumor cells.
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- 24076575 severe combined immunodeficiency due to adenosine-deaminase defect (ada-scid) is usually deadly in childhood because of severe recurrent infections.
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- 23226053 This is true of patients with ataxia telangiectasia (at), ataxia telangiectasia-like disorder, severe combined immunodeficiency, ligase iv syndrome, rothmund–thompson syndrome, seckel syndrome, werner syndrome, nijmegen breakage syndrome, all due to defective repair of double-strand breaks (dsbs)5 or stalled replication forks.6 it is also true of patients with fanconi anemia caused by defective repair of dna interstrand crosslinks (icls) and patients with xeroderma pigmentosum due to a defect in nucleotide excision repair (ner) of helix-distorting dna adducts.7,8 since nsclc and hnscc are treated with cisplatin and radiation therapy, it is logical to predict that patients with reduced dsb repair, single-strand break (ssb) repair, icl repair, or ner due to polymorphisms affecting the expression or function of dna repair proteins might be most responsive to dna damaging agents.
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- 20979627 Nhej defects lead to severe combined immunodeficiency (scid) and lymphoid cancer predisposition in both mice and humans.
PubMedID- 24592361 [91011] these vectors are used for the treatment of a number of diseases such as β-thalassemia, hemophilia, severe combined immunodeficiency (scid), cystic fibrosis, and muscular and neurodegenerative diseases in animal models.

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