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Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)

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Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).

Also Known As:

Bare Lymphocyte Syndrome; Immunodeficiency Syndrome, Severe Combined; Immunologic Deficiency, Severe Combined; Omenn's Syndrome; Reticuloendotheliosis, Familial; Severe Combined Immunodeficiency Syndrome; Severe Combined Immunologic Deficiency; Bare Lymphocyte Syndromes; Combined Immunodeficiencies, Severe; Combined Immunodeficiency, Severe; Familial Reticuloendothelioses; Familial Reticuloendotheliosis; Immunodeficiencies, Severe Combined; Lymphocyte Syndrome, Bare; Lymphocyte Syndromes, Bare; Omenns Syndrome; Reticuloendothelioses, Familial; Severe Combined Immunodeficiencies; Syndrome, Bare Lymphocyte; Syndrome, Omenn; Syndrome, Omenn's; Syndromes, Bare Lymphocyte; Immunodeficiency, Severe Combined; Omenn Syndrome

Networked: 2083 relevant articles (58 outcomes, 157 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Infection
2.	Neoplasms (Cancer)
3.	Leukemia
4.	Melanoma (Melanoma, Malignant)
5.	Wiskott-Aldrich Syndrome (Syndrome, Wiskott-Aldrich)

Experts

1.	Aiuti, Alessandro: 22 articles (04/2015 - 06/2002)
2.	Puck, Jennifer M: 21 articles (07/2015 - 02/2002)
3.	Gaspar, H Bobby: 21 articles (05/2015 - 10/2004)
4.	Buckley, Rebecca H: 20 articles (07/2015 - 02/2002)
5.	Cowan, Morton J: 19 articles (11/2015 - 01/2008)
6.	Notarangelo, Luigi D: 19 articles (07/2015 - 02/2005)
7.	Roifman, Chaim M: 18 articles (10/2014 - 03/2004)
8.	Tateno, Chise: 16 articles (08/2015 - 09/2007)
9.	Fischer, Alain: 15 articles (02/2014 - 05/2004)
10.	Gennery, Andrew R: 14 articles (11/2015 - 09/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Severe Combined Immunodeficiency:

1.	Adenosine DeaminaseIBA 01/01/2006 - "Indeed, the first clinical gene therapy trial was safely performed and was in part, effective for adenosine deaminase (ADA) deficiency patients, a type of severe combined immunodeficiency diseases (SCID). " 03/01/2014 - "Gene transfer into autologous hematopoietic stem cells by γ-retroviral vectors (gRV) is an effective treatment for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID). " 11/01/2013 - "Improved outcomes for 'difficult' conditions [adenosine deaminase-severe combined immunodeficiency (ADA-SCID), major histocompatibility complex class II deficiency] and potential advantages of using cord blood as a stem cell source have also been described. " 12/01/1993 - "Severe combined immunodeficiency of reduced severity due to homozygosity for an adenosine deaminase missense mutation (Arg253Pro)." 09/01/2015 - "In fact, the first human gene therapy trial performed involved the implantation of autologous bone marrow cells transduced ex vivo with gamma retrovirus vectors expressing adenosine deaminase in a patient with severe combined immunodeficiency. "
2.	AntibodiesIBA 06/01/2009 - "The protective efficacy of these antibodies was determined by injecting the absorbed serum into severe combined immunodeficiency mice, which were then challenged with highly pathogenic H5N1 virus (A/Vietnam/Jp1203/2004; Japanese isolate of A/Vietnam/1203/2004). " 01/01/2012 - "Protective effects of passively transferred merozoite-specific antibodies against Theileria equi in horses with severe combined immunodeficiency." 01/01/1997 - "To explore and prevent such resistance, we treated severe combined immunodeficiency mice (SCID) with anti-NK antibodies and analysed the improved engraftment of stem cells induced by this treatment. " 12/13/2011 - "Studies were performed in vitro on cultured human smooth muscle cells, ex vivo on human arterial segments, and in vivo in a model consisting of human arterial segments grafted into severe combined immunodeficiency/beige mice injected weekly with anti-HLA antibodies. " 09/01/2013 - "Synovial production of anti-citrullinated protein (ACPA) and anti-citrullinated EBV peptide (VCP1/VCP2) antibodies was investigated in situ and in vivo in the severe combined immunodeficiency (SCID)/RA chimeric model. "
3.	matrigelIBA 10/01/2007 - "To enhance safety, these cells were implanted subcutaneously in a Matrigel scaffold, and the efficacy of this strategy was compared with i.v. delivery of engineered BOECs in nonhemophilic nonobese diabetic/severe combined immunodeficiency mice. " 04/01/2004 - "Finally, studies in nonobese diabetic/severe combined immunodeficiency (NOD/SCID) mice demonstrated that human circulating EPCs are able to colonize a Matrigel plug. " 02/01/2009 - "Moreover, the peptide 4.10 inhibited the in vitro endothelial cell motility and organization into capillary-like structures, and the in vivo angiogenesis of human umbilical cord-derived endothelial cells implanted in Matrigel in severe combined immunodeficiency mice. " 11/01/1998 - "To test the in vivo activity of the expanded CIK cells, CML was engrafted into severe combined immunodeficiency disease (SCID) mice using matrigel. " 06/01/2004 - "We subcutaneously implanted human bone fragments with telomerized presenescent osteoblasts or primary presenescent osteoblasts as three-dimensional Matrigel xenografts in severe combined immunodeficiency (SCID) mice (each group: six mice) and analyzed the grafts at 6 weeks after implantation. "
4.	Immunotoxins (Immunotoxin)IBA 09/10/2004 - "Severe combined immunodeficiency (SCID) mice challenged with CD30-positive L540Cy cells were treated with the immunotoxin. " 12/01/1994 - "To test the antitumor efficacy of these immunotoxins in vivo, we developed a disseminated human neuroblastoma model in severe combined immunodeficiency mice. " 05/01/1992 - "In vivo efficacy of B43 (anti-CD19)-pokeweed antiviral protein immunotoxin against human pre-B cell acute lymphoblastic leukemia in mice with severe combined immunodeficiency." 01/01/1997 - "Immunotoxins constructed with toxins of either plant or bacterial origin have shown a powerful antitumor activity both in vitro and in mice with severe combined immunodeficiency bearing various kinds of leukaemias and lymphomas. " 05/01/1995 - "Biotherapy for xenografted human central nervous system leukemia in mice with severe combined immunodeficiency using B43 (anti-CD19)-pokeweed antiviral protein immunotoxin."
5.	LBH589IBA 08/01/2009 - "Panobinostat was equally effective in immunocompetent and severe combined immunodeficiency mice, indicating that the inhibition of tumor growth by panobinostat was not due to direct immunologic effects. " 09/24/2009 - "Furthermore, compared with treatment with each agent alone, cotreatment with DZNep and the pan-histone deacetylase inhibitor panobinostat caused more depletion of EZH2, induced more apoptosis of AML, but not normal CD34(+) bone marrow progenitor cells, and significantly improved survival of nonobese diabetic/severe combined immunodeficiency mice with HL-60 leukemia. "
6.	Severe combined immunodeficiency due to adenosine deaminase deficiencyIBA 01/01/1999 - "Gene therapy for severe combined immunodeficiency caused by adenosine deaminase deficiency: improved retroviral vectors for clinical trials." 06/01/2007 - "In humans, adenosine deaminase deficiency is linked to severe combined immunodeficiency and as such the enzyme has been approved for the first gene therapy trial. " 01/01/1997 - "A study was made of fibroblast strains established from individuals with adenosine deaminase deficiency, T(-)B(-) SCID, Omenn's syndrome and a SCID heterozygote. " 10/01/2013 - "Due to underlying allelic heterogeneity, the disorder manifests as a spectrum, ranging from neonatal onset severe combined immunodeficiency to apparently normal partial adenosine deaminase deficiency. " 10/01/2013 - "Adenosine deaminase deficiency accounts for approximately 15-20% of severe combined immunodeficiency in humans. "
7.	Immunoglobulin G (IgG)IBA 12/01/2003 - "The purpose of this study was to evaluate the effect on the cardiac structure and function by the transfer of immunoglobulin G (IgG) and/or lymphocytes from rabbits immunized with a synthetic peptide corresponding to the sequence of the second extracellular loop of beta1-adrenoceptor (beta peptide) into severe combined immunodeficiency (SCID) mice. " 11/01/2005 - "Anti-CTLA-4 treatment stimulated the IgG antibody production in severe combined immunodeficiency (SCID)/SCID mice reconstituted with CTLA-4(-/-) B lymphocytes and wild-type T lymphocytes. " 08/31/2000 - "As reported separately, a high proportion of these anti-gp70 antibody-producing hybridoma clones induced in syngeneic non-autoimmune and severe combined immunodeficiency mice proliferative or wire loop-like glomerular lesions with granular deposits of gp70, IgG, and C3 in affected glomeruli. " 04/01/1998 - "The ability of the IgG2/lambda mAb to induce an inflammatory reaction was tested by intraperitoneal application in severe combined immunodeficiency (SCID) mice, which resulted in an inflammatory, predominantly granulocytic infiltration of the peritoneum. " 09/01/1993 - "However, when implants are placed in mice having a form of severe combined immunodeficiency (and, consequently, almost undetectable levels of serum IgG), a near-normal influx of phagocytic cells ensues. "
8.	Complementary DNA (cDNA)IBA 06/01/2005 - "Additionally, a new polymorphism in an intronic region at nt 485 (A-->A/G) was identified, which is close to the polymorphism at nt 474 that has been associated with one of the disease causing CIITA cDNA mutations in bare lymphocyte syndrome. " 02/01/2002 - "In addition, we demonstrate the presence of splice variant at a previously undiscovered intron, accounting for a three nt (TAG) insertion at position 474 that was originally described in association with one of the disease-causing CIITA cDNA mutations in bare lymphocyte syndrome." 05/01/2009 - "Re-expression of KLK6 in nonexpressing MDA-MB-231 breast tumor cells by stable cDNA transfection resulted in marked reversal of their malignant phenotype, manifested by lower proliferation rates and saturation density, marked inhibition of anchorage-independent growth, reduced cell motility, and their dramatically reduced ability to form tumors when implanted in severe combined immunodeficiency mice. " 07/01/1985 - "Utilizing complementary DNA probes for both beta 2-microglobulin and class I genes, the molecular basis for this syndrome was investigated in a family with two siblings exhibiting the bare lymphocyte syndrome. " 01/25/1984 - "In order to determine the molecular basis of adenosine deaminase (ADA) deficiency in cells derived from patients with severe combined immunodeficiency (SCID) disease, we used a human ADA cDNA clone (1) to analyse the organization and transcription of the ADA gene in both normal and ADA-SCID cells. "
9.	Immunoglobulins (Immunoglobulin)IBA 09/01/2009 - "Using a hu-nonobese diabetic/severe combined immunodeficiency (hu-NOD/SCID) gamma-null model of xenogeneic GVHD, we have demonstrated that treatment with recombinant immunoglobulin-like transcript 3-Fc protein induces the differentiation of CD8(+) T suppressor cells and blocks the cellular and humoral arm of the GVH reaction." 08/01/1995 - "To establish human hybridoma lines, production of human immunoglobulin (Ig) and behavior of the implanted human peripheral blood lymphocytes (PBL) were characterized in severe combined immunodeficiency (SCID) mice. " 10/01/1994 - "Analysis of human immunoglobulin levels in these animals revealed that severe combined immunodeficiency (SCID) mice receiving CD8dL produced significantly higher levels of serum human immunoglobulin than those receiving PBL. " 12/01/1993 - "Demonstration of equine immunoglobulin in sera from severe combined immunodeficiency/beige mice inoculated with equine lymphocytes." 12/01/1992 - "Using highly purified myeloma cells from patient bone marrow, we established human-murine myeloma chimeras in severe combined immunodeficiency (SCID) mice and documented secretion of monoclonal human immunoglobulins (Hulgs) in the mice for up to 299 days. "
10.	Streptozocin (Streptozotocin)FDA Link 11/03/2015 - "administration of 10 μg MR-409 for 3 wk dramatically reduced the severity of streptozotocin (STZ)-induced diabetes in nonobese diabetic severe combined immunodeficiency (NOD/SCID) mice. " 12/01/2015 - "The therapeutic effects of the islets with MSC sheets were investigated by transplanting the sheets at subcutaneous sites in severe combined immunodeficiency (SCID) mice with streptozotocin-induced diabetes. " 12/15/2011 - "After 2 days of culturing, islet cells were harvested as a uniformly connected tissue sheet by lowering the culture temperature from 37°C to 20°C for 30 min. Two harvested islet cell sheets were transplanted into the subcutaneous space of streptozotocin-induced diabetic severe combined immunodeficiency (SCID) mice to engineer neo-islet tissues in vivo. " 06/27/2010 - "Lewis rat islets were infused into the liver of streptozotocin-diabetic syngeneic recipients or transplanted under the renal capsule of nonobese diabetic severe combined immunodeficiency (NOD SCID) mice with MSCs isolated from Lewis bone marrow and expanded in culture. " 03/27/2007 - "Encapsulated cell clusters were subsequently transplanted into the peritoneal cavity of streptozotocin-induced diabetic severe combined immunodeficiency mice. "

Therapies and Procedures

1.	Hematopoietic Stem Cell Transplantation 12/01/2007 - "Severe combined immunodeficiency is treatable by hematopoietic stem cell transplantation, with best outcome if recognized and treated early in life. " 02/01/2002 - "Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival." 11/01/2011 - "CD3δ deficiency is a fatal form of severe combined immunodeficiency that can be cured by hematopoietic stem cell transplantation (HSCT). " 03/01/2009 - "Hematopoietic stem cell transplantation (HSCT) is the only cure for patients with severe combined immunodeficiency (SCID). " 06/01/2014 - "Severe combined immunodeficiency (SCID) can be cured by using allogeneic hematopoietic stem cell transplantation, and the absence of host immunity often obviates the need for preconditioning. "
2.	Transplantation (Transplant Recipients) 04/01/2015 - "Artemis is a single-stranded endonuclease, deficiency of which results in a radiation-sensitive form of severe combined immunodeficiency (SCID-A) most effectively treated by allogeneic hematopoietic stem cell (HSC) transplantation and potentially treatable by administration of genetically corrected autologous HSCs. " 03/22/2012 - "To help transplantation centers choose the best treatment option, we retrospectively compared outcomes after 175 MMRDTs and 74 UCBTs in patients with SCID or Omenn syndrome. " 01/01/2014 - "The aim of the present study was to clarify the effectiveness of transplantation of hBMSC-NRs to injured spinal cord of severe combined immunodeficiency (NOD/SCID) mice. " 04/01/2011 - "Further in vivo studies were carried out by subcutaneous transplantation of pellets in severe combined immunodeficiency (SCID) mice for 3 weeks. " 04/15/2005 - "Nonobese diabetic/severe combined immunodeficiency (NOD/SCID) transplantation studies revealed analogous results to those obtained with LTC-ICs. "
3.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 07/01/2008 - "Long-term outcomes of bone marrow transplantation for severe combined immunodeficiencies confirmed the efficacy of this therapy." 01/01/2000 - "JAK3 deficiency in humans results in autosomal recessive T-B+ severe combined immunodeficiency disease (SCID), a severe immunodeficiency that can only be cured by bone marrow transplantation. " 02/18/1999 - "Since 1968 it has been known that bone marrow transplantation can ameliorate severe combined immunodeficiency, but data on the long-term efficacy of this treatment are limited. " 10/15/1999 - "Long-term chimerism and B-cell function after bone marrow transplantation in patients with severe combined immunodeficiency with B cells: A single-center study of 22 patients." 06/01/1995 - "Mixed chimerism following bone marrow transplantation for severe combined immunodeficiency: a study by DNA fingerprinting and simultaneous immunophenotyping and fluorescence in situ hybridisation."
4.	Drug Therapy (Chemotherapy) 10/01/2008 - "To determine whether T cell engraftment and recovery of B cell immunity could be improved, we prospectively treated 15 children with severe combined immunodeficiency disease (SCID) with megadoses of haplocompatible CD34(+) cells and a fixed number of CD3(+) cells without previous myeloablative chemotherapy. " 01/01/2015 - "Use of chemotherapy-based conditioning-facilitated engraftment in patients with severe combined immunodeficiency (SCID) is contentious. " 02/01/1994 - "Except in patients with severe combined immunodeficiency disease (SCID), overcoming this hurdle requires high doses of chemotherapy. " 10/01/2014 - "Patients with severe combined immunodeficiency disease who have matched sibling donors (MSDs) can proceed to hematopoietic cell transplantation (HCT) without conditioning chemotherapy. " 10/01/2014 - "Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiency."
5.	Injections 10/01/2014 - "Finally, to verify the curative potential of cMSC, 2.0 × 10(6) cells or phosphate-buffered saline were injected systemically in non-obese diabetic/severe combined immunodeficiency mice that received TAA injections twice a week for 13 weeks. " 01/15/2004 - "Spontaneously diabetic NOD mice received NOD severe combined immunodeficiency islet transplants and were treated with daily LSF injections at 50 mg/kg for 3 weeks. " 08/01/2005 - "Multiple injections of low amounts of LV-IFN into severe combined immunodeficiency (SCID) mice bearing IGROV-1 or OC316 ovarian cancer cells elicited remarkable antitumor activity, leading to prolongation of survival in the majority of animals. " 03/01/2003 - "Subcutaneous cell injections produced small regressing tumors in athymic or severe combined immunodeficiency disorders (SCID) mice. " 01/01/2002 - "The growth of a human pancreatic tumor in a severe combined immunodeficiency (SCID) mouse model was markedly inhibited by consecutive injections of the E1B-55kDa-deleted adenovirus. "