severe combined immunodeficiency
Information
- Disease name
- severe combined immunodeficiency
- Disease ID
- DOID:627
- Description
- "A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems." [url:http\://www.merriam-webster.com/medlineplus/severe%20combined%20immunodeficiency, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=severecombinedimmunodeficiency, url:http\://www.scid.net/, url:https\://www.genome.gov/Genetic-Disorders/Severe-Combined-Immunodeficiency]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| LIG4 | 13 | 108,207,460 | 108,218,331 | 8 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03597594 | Active, not recruiting | Phase 1/Phase 2 | Haplocompatible Transplant Using TCRα/β Depletion Followed by CD45RA-Depleted Donor Lymphocyte Infusions for Severe Combined Immunodeficiency (SCID) | September 2, 2021 | July 1, 2028 |
| NCT00001255 | Completed | Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency: A Natural History Study | September 1990 | July 2002 | |
| NCT00006335 | Completed | Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID | September 26, 2000 | ||
| NCT00008450 | Completed | Phase 1 | Total-Body Irradiation Followed By Cyclosporine and Mycophenolate Mofetil in Treating Patients With Severe Combined Immunodeficiency Undergoing Donor Bone Marrow Transplant | August 11, 1997 | December 26, 2018 |
| NCT00028236 | Completed | Phase 1 | Stem Cell Gene Therapy to Treat X-Linked Severe Combined Immunodeficiency (XSCID) | December 10, 2001 | July 25, 2011 |
| NCT00000603 | Completed | Phase 2 | Cord Blood Stem Cell Transplantation Study (COBLT) | September 1996 | October 2007 |
| NCT00152100 | Completed | Phase 1 | Transplantation of Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome | February 2004 | August 2007 |
| NCT00220766 | Completed | Phase 3 | Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients | August 2002 | March 2004 |
| NCT00228852 | Completed | Phase 1/Phase 2 | IMM 0212: Busulfan With Fludarabine and Antithymocyte Globulin as Preparative Therapy for Hematopoietic Stem Cell Transplant for the Treatment of Severe Congenital T-Cell Immunodeficiency | November 2006 | |
| NCT00794508 | Completed | Phase 2 | MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID | November 2008 | January 2015 |
| NCT00845416 | Completed | Newborn Screening for Severe Combined Immunodeficiency (SCID) in a High-Risk Population | March 2009 | November 2011 | |
| NCT01129544 | Completed | Phase 1/Phase 2 | Gene Transfer for Severe Combined Immunodeficiency, X-linked (SCID-X1) Using a Self-inactivating (SIN) Gammaretroviral Vector | April 2010 | March 2023 |
| NCT01420627 | Completed | Phase 3 | EZN-2279 in Patients With ADA-SCID | January 24, 2014 | May 29, 2019 |
| NCT01529827 | Completed | Phase 2 | Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies | February 28, 2012 | August 29, 2019 |
| NCT02590328 | Completed | Neonatal Screening of Severe Combined Immunodeficiencies | December 2015 | December 2021 | |
| NCT03513328 | Completed | Phase 1/Phase 2 | Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation | June 15, 2018 | February 19, 2023 |
| NCT03878069 | Completed | Registry Study of Revcovi Treatment in Patients With ADA-SCID | June 25, 2019 | January 18, 2023 | |
| NCT04246840 | Completed | Study Through Imaging of Visceral Lymphoid Organs in Patients With SCID Who Have Recieved Bone Marrow Allograft | January 13, 2020 | February 15, 2021 | |
| NCT01821781 | Recruiting | Phase 2 | Immune Disorder HSCT Protocol | March 2013 | March 2027 |
| NCT00055172 | Recruiting | Genetic Basis of Immunodeficiency | April 5, 2004 | ||
| NCT05651113 | Recruiting | The Experience of Screening for SCID | November 9, 2022 | March 31, 2029 | |
| NCT00695279 | Recruiting | Long Term Follow Up Of Patients Who Have Received Gene Therapy Or Gene Marked Products | January 4, 2007 | December 2036 | |
| NCT03538899 | Recruiting | Phase 1/Phase 2 | Autologous Gene Therapy for Artemis-Deficient SCID | May 31, 2018 | June 2038 |
| NCT05298930 | Recruiting | N/A | Feasibility Study to Assess an Adapted Physical Activity Program in Children, Adolescents and Young Adults Requiring Hematopoietic Stem Cell Transplantation | May 25, 2022 | July 2024 |
| NCT01182675 | Terminated | Phase 2 | Hematopoietic Stem Cell Transplantation (HSCT) for Children With SCID Utilizing Alemtuzumab, Plerixafor & Filgrastim | August 2010 | September 2013 |
| NCT02127892 | Terminated | Phase 1/Phase 2 | SCID Bu/Flu/ATG Study With T Cell Depletion | January 2, 2007 | August 1, 2016 |
| NCT00006054 | Terminated | N/A | Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies | March 2000 | December 2002 |
| NCT02231983 | Unknown status | Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China | September 2014 | September 2016 | |
| NCT01019876 | Unknown status | Phase 2/Phase 3 | Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases | June 2002 | May 2013 |
| NCT02860559 | Unknown status | Phase 1 | Safety and Early Efficacy Study of TBX-1400 in Patients With Severe Combined Immunodeficiency | August 2021 | March 2024 |
| NCT02177760 | Withdrawn | Phase 2 | Sirolimus Prophylaxis for aGVHD in TME SCID | July 2014 | November 2015 |
| NCT04331483 | Withdrawn | N/A | A Study to Assess a Physical Activity Program in Children, Adolescents and Young Adults Requiring Hematopoietic Stem Cell Allografts | December 8, 2018 | September 2023 |
- Disase is a (Disease Ontology)
- DOID:0111962
- Cross Reference ID (Disease Ontology)
- GARD:7628
- Cross Reference ID (Disease Ontology)
- MESH:D016511
- Cross Reference ID (Disease Ontology)
- NCI:C3472
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:190994004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0085110
- Exact Synonym (Disease Ontology)
- combined T and B cell inborn immunodeficiency
- Exact Synonym (Disease Ontology)
- SCID
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0004430
- OrphaNumber from OrphaNet (Orphanet)
- 183660
- MeSH unique ID (MeSH (Medical Subject Headings))
- D016511