SCID
MCID: SVR004
MIFTS: 70

Severe Combined Immunodeficiency (SCID)

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Severe Combined Immunodeficiency

MalaCards integrated aliases for Severe Combined Immunodeficiency:

Name: Severe Combined Immunodeficiency 12 73 20 58 54 15 37 70
Scid 12 20 58
Severe Combined Immunodeficiency Disease 29 6
Combined T and B Cell Inborn Immunodeficiency 12
Immunodeficiency, Severe Combined 39

Characteristics:

Orphanet epidemiological data:

58
severe combined immunodeficiency
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (United States); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:627
MeSH 44 D016511
NCIt 50 C3472
SNOMED-CT 67 190994004
MESH via Orphanet 45 D016511
ICD10 via Orphanet 33 D81.0 D81.1 D81.2 more
UMLS via Orphanet 71 C0085110
Orphanet 58 ORPHA183660
UMLS 70 C0085110

Summaries for Severe Combined Immunodeficiency

GARD : 20 Severe combined immunodeficiencies (SCID) are inherited immune system disorders characterized by abnormalities with responses of both T cells and B cells (specific types of white blood cells needed for immune system function). Common signs and symptoms include an increased susceptibility to infections including ear infections; pneumonia or bronchitis; oral thrush; and diarrhea. Due to recurrent infections, children with SCID do not grow and gain weight as expected ( failure to thrive ). SCID may be caused by mutations in any of several genes and can be inherited in an X-linked recessive (most commonly) or autosomal recessive manner. The most common type of SCID is called X-linked severe combined immunodeficiency (XSCID). Another form of SCID is caused by a deficiency of the enzyme adenosine deaminase (ADA). Infections are treated with specific antibiotic, antifungal, and antiviral agents and administration of intravenous (IV) immunoglobulin. The most effective treatment is transplantation of blood-forming stem cells from the bone marrow of a healthy person.

MalaCards based summary : Severe Combined Immunodeficiency, also known as scid, is related to severe combined immunodeficiency, x-linked and severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative. An important gene associated with Severe Combined Immunodeficiency is ADA (Adenosine Deaminase), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Dopamine and Fluoxetine have been mentioned in the context of this disorder. Affiliated tissues include Blood, and related phenotypes are failure to thrive and recurrent respiratory infections

Disease Ontology : 12 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.

Wikipedia : 73 Severe combined immunodeficiency (SCID), also known as Swiss-type agammaglobulinemia, is a rare genetic... more...

Related Diseases for Severe Combined Immunodeficiency

Diseases related to Severe Combined Immunodeficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 828)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency, x-linked 33.9 JAK3 IL7R IL7 IL2RG IL2 ADA
2 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 33.9 RAG2 RAG1 JAK3 ADA
3 severe combined immunodeficiency with sensitivity to ionizing radiation 33.8 RAG2 RAG1 PRKDC NHEJ1 LIG4 DCLRE1C
4 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 33.7 PTPRC IL7R CD3D
5 adenosine deaminase deficiency 33.6 RAG2 RAG1 JAK3 IL2RG CD3D AK2
6 t-b- severe combined immunodeficiency 33.4 RAG2 JAK3 DCLRE1C
7 reticular dysgenesis 33.3 RAG1 NHEJ1 JAK3 IL2RG DCLRE1C AK2
8 bare lymphocyte syndrome, type ii 33.3 ZAP70 RAG2 RAG1 NHEJ1 LIG4 JAK3
9 immunodeficiency 19 33.3 ZAP70 CD3D ADA
10 immunodeficiency 18 33.3 RAG1 CD3E CD3D
11 jak3-deficient severe combined immunodeficiency 33.2 JAK3 IL2
12 omenn syndrome 33.1 ZAP70 RAG2 RAG1 PTPRC PRKDC NHEJ1
13 t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta 32.6 CD3E CD3D
14 lig4 syndrome 32.5 RAG2 RAG1 PRKDC NHEJ1 LIG4 DCLRE1C
15 janus kinase-3 deficiency 32.4 LIG4 JAK3 IL2RG
16 purine nucleoside phosphorylase deficiency 32.4 ZAP70 RAG1 NHEJ1 DCLRE1C AK2 ADA
17 recombinase activating gene 1 deficiency 32.4 RAG2 RAG1
18 coronin-1a deficiency 32.4 DCLRE1C CD3D AK2
19 cd45 deficiency 32.4 ZAP70 PTPRC
20 immune deficiency disease 32.2 ZAP70 RAG2 RAG1 RAC2 PTPRC MYOC
21 combined immunodeficiency 32.2 ZAP70 RAG2 RAG1 RAC2 PTPRC PRKDC
22 lymphopenia 31.6 RAG1 RAC2 MYOC MYH7 JAK3 IL7R
23 combined cellular and humoral immune defects with granulomas 31.4 RAG2 RAG1
24 combined t and b cell immunodeficiency 31.3 ZAP70 RAC2 MYOC MYH7
25 leukemia, acute lymphoblastic 31.3 ZAP70 RAG1 PTPRC JAK3 IL7R IL7
26 digeorge syndrome 31.3 RAG1 IL7 IL2RG DCLRE1C
27 t cell deficiency 31.1 ZAP70 RAG2 RAG1 PTPRC IL7R IL7
28 t-cell lymphoblastic leukemia/lymphoma 31.1 ZAP70 RAG1 PTPRC IL2 ADA
29 t-cell acute lymphoblastic leukemia 31.0 RAG1 PTPRC JAK3 IL7R IL7 IL2
30 ataxia-telangiectasia 30.8 RAG1 PRKDC LIG4 DCLRE1C
31 common variable immunodeficiency 30.6 ZAP70 RAG2 RAG1 RAC2 JAK3 IL7
32 cd40 ligand deficiency 30.6 ZAP70 JAK3 IL2RG DCLRE1C
33 human immunodeficiency virus infectious disease 30.5 PTPRC IL7R IL7 IL2 ADA
34 leukemia, chronic lymphocytic 30.3 ZAP70 PTPRC IL7 IL2 ADA
35 childhood t-cell acute lymphoblastic leukemia 30.2 IL7R IL7 IL2
36 nijmegen breakage syndrome 30.0 NHEJ1 LIG4 DCLRE1C
37 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 11.9
38 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 11.8
39 short-limb skeletal dysplasia with severe combined immunodeficiency 11.8
40 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 11.7
41 immunodeficiency 22 11.7
42 zap70-related severe combined immunodeficiency 11.7
43 immunodeficiency 49 11.6
44 immunodeficiency 52 11.6
45 immunodeficiency 11 11.5
46 immunodeficiency 24 11.5
47 immunodeficiency 58 11.5
48 immunodeficiency 26 with or without neurologic abnormalities 11.5
49 immunodeficiency 26 11.4
50 severe combined immunodeficiency, atypical 11.4

Graphical network of the top 20 diseases related to Severe Combined Immunodeficiency:



Diseases related to Severe Combined Immunodeficiency

Symptoms & Phenotypes for Severe Combined Immunodeficiency

Human phenotypes related to Severe Combined Immunodeficiency:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 hallmark (90%) HP:0001508
2 recurrent respiratory infections 31 hallmark (90%) HP:0002205
3 fever 31 hallmark (90%) HP:0001945
4 chronic diarrhea 31 hallmark (90%) HP:0002028
5 sepsis 31 hallmark (90%) HP:0100806
6 severe combined immunodeficiency 31 hallmark (90%) HP:0004430
7 alopecia 31 frequent (33%) HP:0001596
8 lymphopenia 31 frequent (33%) HP:0001888
9 skin rash 31 frequent (33%) HP:0000988
10 splenomegaly 31 occasional (7.5%) HP:0001744
11 hepatomegaly 31 occasional (7.5%) HP:0002240
12 chronic otitis media 31 occasional (7.5%) HP:0000389
13 abnormality of the dentition 31 occasional (7.5%) HP:0000164
14 microcephaly 31 occasional (7.5%) HP:0000252
15 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
16 recurrent urinary tract infections 31 occasional (7.5%) HP:0000010

GenomeRNAi Phenotypes related to Severe Combined Immunodeficiency according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.74 PTPRC
2 Decreased viability GR00107-A-1 9.74 AK2 ZAP70
3 Decreased viability GR00221-A-1 9.74 PRKDC ZAP70
4 Decreased viability GR00221-A-2 9.74 ZAP70
5 Decreased viability GR00221-A-3 9.74 JAK3
6 Decreased viability GR00221-A-4 9.74 AK2 LIG4
7 Decreased viability GR00249-S 9.74 CD3D LIG4 PRKDC RAC2 ZAP70
8 Decreased viability GR00301-A 9.74 AK2
9 Decreased viability GR00342-S-2 9.74 AK2
10 Decreased viability GR00342-S-3 9.74 AK2
11 Decreased viability GR00381-A-1 9.74 LIG4 MYOC
12 Decreased viability GR00386-A-1 9.74 IL7 RAC2 RAG2
13 Decreased viability GR00402-S-2 9.74 CD3E IL2 JAK3 LIG4

MGI Mouse Phenotypes related to Severe Combined Immunodeficiency:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.37 ADA CD3E DCLRE1C IL2 IL2RG IL7R
2 hematopoietic system MP:0005397 10.36 ADA CD3D CD3E DCLRE1C IL2 IL2RG
3 endocrine/exocrine gland MP:0005379 10.33 ADA CD3E DCLRE1C IL2 IL2RG IL7
4 immune system MP:0005387 10.33 ADA CD3D CD3E DCLRE1C IL2 IL2RG
5 digestive/alimentary MP:0005381 10.13 ADA IL2 IL2RG JAK3 LIG4 PRKDC
6 mortality/aging MP:0010768 10.13 ADA CD3E IL2 IL2RG JAK3 LIG4
7 liver/biliary system MP:0005370 9.97 ADA IL2 LIG4 PRKDC PTPRC RAC2
8 neoplasm MP:0002006 9.96 CD3E IL2 IL2RG IL7R LIG4 NHEJ1
9 no phenotypic analysis MP:0003012 9.7 IL2 IL2RG IL7 MYH7 MYOC PRKDC
10 normal MP:0002873 9.61 ADA IL2RG IL7R MYH7 MYOC PTPRC
11 respiratory system MP:0005388 9.23 ADA IL2 IL2RG PRKDC PTPRC RAG1

Drugs & Therapeutics for Severe Combined Immunodeficiency

Drugs for Severe Combined Immunodeficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 98)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
3
Norepinephrine Approved Phase 4 51-41-2 439260
4 Analgesics Phase 4
5 Psychotropic Drugs Phase 4
6 Dopamine Agents Phase 4
7 Monoamine Oxidase Inhibitors Phase 4
8 Duloxetine Hydrochloride Phase 4
9 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
10 Antidepressive Agents Phase 4
11
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
12
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
13
Adenosine Approved, Investigational Phase 2, Phase 3 58-61-7 60961
14 Immunoglobulin G Phase 3
15 Rho(D) Immune Globulin Phase 3
16 Immunoglobulins, Intravenous Phase 3
17 gamma-Globulins Phase 3
18
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
19
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
20
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
21
Mycophenolic acid Approved Phase 2 24280-93-1 446541
22
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
23
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
24
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
25
alemtuzumab Approved, Investigational Phase 2 216503-57-0
26
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
27
Melphalan Approved Phase 2 148-82-3 4053 460612
28
Lenograstim Approved, Investigational Phase 2 135968-09-1
29
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
30
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
31
Phenylalanine Approved, Investigational, Nutraceutical Phase 2 63-91-2 6140
32 Immunologic Factors Phase 2
33 Antimetabolites Phase 2
34 Vitamin B9 Phase 2
35 Folic Acid Antagonists Phase 2
36 Folate Phase 2
37 Vitamin B Complex Phase 2
38 Calcineurin Inhibitors Phase 2
39 Dermatologic Agents Phase 2
40 Antitubercular Agents Phase 2
41 Immunosuppressive Agents Phase 1, Phase 2
42 Alkylating Agents Phase 1, Phase 2
43 Antilymphocyte Serum Phase 1, Phase 2
44 Thymoglobulin Phase 1, Phase 2
45 Hormones Phase 1, Phase 2
46 Antineoplastic Agents, Immunological Phase 1, Phase 2
47 Antibodies, Monoclonal Phase 1, Phase 2
48 Adjuvants, Immunologic Phase 2
49 Anti-Retroviral Agents Phase 2
50 Plerixafor octahydrochloride Phase 2

Interventional clinical trials:

(show top 50) (show all 81)
# Name Status NCT ID Phase Drugs
1 An Open Treatment Trial of Duloxetine in Elderly Patients With Dysthymic Disorder Completed NCT01852383 Phase 4 Duloxetine
2 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Selected Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
3 A Study of EZN-2279 (Polyethylene Glycol Recombinant Adenosine Deaminase [PEG-rADA]) Administered as a Weekly Intramuscular Injection in Patients With Adenosine Deaminase (ADA)-Deficient Combined Immunodeficiency Completed NCT01420627 Phase 3
4 IGIV-C 10% Rapid Infusion Trial in Primary Immune Deficient Patients Completed NCT00220766 Phase 3 Immune Globulin Intravenous [Human], 10% Caprylate/Chromatography Purified;Dextrose, 5% in Water
5 A Single Arm, Open Label Clinical Study to Enable Process Validation of Commercial Grade Ex Vivo Hematopoietic Stem Cell Gene Therapy (OTL-101) in Subjects With Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency (ADA-SCID) Suspended NCT04140539 Phase 2, Phase 3
6 Protocol No. 2 of Gene Therapy for X-linked Severe Combined Immunodeficiency (SCID-X1) Using a Self Retroviral Vector - SCID2 Unknown status NCT01410019 Phase 1, Phase 2
7 Treatment of ADA-SCID by Gene Therapy on Somatic Cells Completed NCT00599781 Phase 1, Phase 2
8 MND-ADA Transduction of CD34+ Cells From the Bone Marrow Of Children With Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID): Effect of Discontinuation of PEG-ADA and Marrow Cytoreduction With Busulfan Completed NCT00794508 Phase 2
9 Phase I/II, Historical Controlled, Open-label, Non-randomised, Single-centre Trial to Assess the Safety and Efficacy of EF1αS-ADA Lentiviral Vector Mediated Gene Modification of Autologous CD34+ Cells From ADA-deficient Individuals Completed NCT01380990 Phase 1, Phase 2 Busulfan;Peg-Ada
10 Autologous Transplantation of Bone Marrow CD34+ Stem/Progenitor Cells After Addition of a Normal Human ADA cDNA by the EFS-ADA Lentiviral Vector for Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency (ADA-SCID) Completed NCT01852071 Phase 1, Phase 2 busulfan;PEG-ADA ERT
11 Efficacy and Safety of Cryopreserved Formulation of Autologous CD34+ Hematopoietic Stem Cells Transduced Ex Vivo With EFS Lentiviral Vector Encoding for Human ADA Gene in Subjects With Severe Combined Immunodeficiency Due to ADA Deficiency Completed NCT02999984 Phase 1, Phase 2 busulfan;PEG-ADA ERT
12 Phase I Gene Therapy Protocol for Adenosine Deaminase Deficiency Completed NCT01279720 Phase 1, Phase 2
13 A Phase II Trial of Reduced Intensity Allogeneic Stem Cell Transplantation With Fludarabine, Melphalan and Low Dose Total Body Irradiation Completed NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
14 Phase I/II Trial of De-Escalation of Busulfan With Fludarabine and Antithymocyte Globulin as Preparative Therapy for Hematopoietic Stem Cell Transplant for the Treatment of Severe Congenital T-Cell Immunodeficiency Completed NCT00228852 Phase 1, Phase 2 Busulfan, Fludarabine and ATG
15 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
16 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID Completed NCT00598481 Phase 2 Busulfan;PEG-ADA
17 A Pilot Feasibility Study of Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants Using a Self-Inactivating Lentiviral Vector to Transduce Autologous CD34+ Hematopoietic Cells Recruiting NCT01512888 Phase 1, Phase 2 Busulfan
18 Efficacy and Safety of a Cryopreserved Formulation of Autologous CD34+ Haematopoietic Stem Cells Transduced ex Vivo With Elongation Factor 1α Short Form (EFS) Lentiviral Vector Encoding for Human ADA Gene in Subjects With Severe Combined Immunodeficiency (SCID) Due to Adenosine Deaminase Deficiency Recruiting NCT03765632 Phase 1, Phase 2 Busulfan;Peg-Ada
19 Haplocompatible Transplant Using TCRα/β Depletion Followed by CD45RA-Depleted Donor Lymphocyte Infusions for Severe Combined Immunodeficiency (SCID) Recruiting NCT03597594 Phase 1, Phase 2 Anti-thymocyte globulin (rabbit);Busulfan;Fludarabine;Thiotepa
20 A Phase I/II Feasibility Study of Gene Transfer for Artemis-Deficient Severe Combined Immunodeficiency (ART-SCID) Using a Self-Inactivating Lentiviral Vector (AProArt) to Transduce Autologous CD34 Hematopoietic Cells Recruiting NCT03538899 Phase 1, Phase 2 AProArt;Busulfan
21 Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning Recruiting NCT03311503 Phase 1, Phase 2
22 A Phase I/II Study Evaluating the Safety and the Efficacy of Human T Lymphoid Progenitor (HTLP) Injection to Accelerate Immune Reconstitution After Partially HLA Compatible Allogeneic Hematopoietic Stem Cell Transplantation in SCID Patients Recruiting NCT03879876 Phase 1, Phase 2
23 A Randomized Trial of Low Versus Moderate Exposure Busulfan for Infants With Severe Combined Immunodeficiency (SCID) Receiving TCRαβ+/CD19+ Depleted Transplantation: A Phase II Study by the Primary Immune Deficiency Treatment Consortium (PIDTC) and Pediatric Blood and Marrow Transplant Consortium (PBMTC) Recruiting NCT03619551 Phase 2 Busulfan
24 Gene Transfer for X-linked Severe Combined Immunodeficiency (SCID-X1) Using a Self-inactivating Lentiviral Vector (TYF-IL-2Rg) Recruiting NCT03217617 Phase 1, Phase 2
25 PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
26 Lentiviral Gene Transfer for Treatment of Children Older Than 2 Years of Age With X-Linked Severe Combined Immunodeficiency Recruiting NCT01306019 Phase 1, Phase 2 Palifermin;Busulfan
27 Lentiviral Gene Transfer for Treatment of Children Older Than 2 Years of Age With X-Linked Severe Combined Immunodeficiency Recruiting NCT03315078 Phase 1, Phase 2 Palifermin;Busulfan
28 A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
29 Multi-institutional Phase I/II Trial Evaluating the Treatment of SCID-X1 Patients With Retrovirus-mediated Gene Transfer Active, not recruiting NCT01129544 Phase 1, Phase 2
30 Matched Related and Unrelated Donor Stem Cell Transplantation for Severe Combined Immune Deficiency (SCID): Busulfan-based Conditioning With h-ATG, Radiation, and Sirolimus Enrolling by invitation NCT04370795 Phase 1, Phase 2 Sirolimus;Busulfan;Horse -Anti-thymocyte;G-CSF
31 Bilateral Orthotopic Lung Transplant in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant From Partially HLA-Matched Cadaveric Donors Enrolling by invitation NCT01852370 Phase 1, Phase 2
32 CD45 and Alemtuzumab Monoclonal Antibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Severe Combined Immunodeficiency Disease (SCID) And Other Primary Immunodeficiency Disorders Terminated NCT00579137 Phase 1, Phase 2 Fludarabine
33 Hematopoietic Stem Cell Transplantation for Children With Severe Combined Immunodeficiency Disease Utilizing Alemtuzumab and Mobilization With Plerixafor & Filgrastim Terminated NCT01182675 Phase 2 Transplant Conditioning with Mobilization Only;Transplant Conditioning with Mobilization and Alemtuzumab
34 Phase I/II Trial of Hematopoietic Stem Cell Transplant (HSCT) for Children With Severe Combined Immune Deficiency (SCID) and Without an HLA-Matched Sibling Donor Terminated NCT02127892 Phase 1, Phase 2
35 Treatment for Growth Failure in Patients With X-Linked Severe Combined Immunodeficiency (XSCID): A Phase 2 Study Assessing Safety and Clinical Response to Treatment With Insulin-like Growth Factor-1 (IGF-1) Terminated NCT00490100 Phase 1, Phase 2 Increlex
36 Sirolimus in Prevention of aGVHD in Maternally Engrafted (TME) Severe Combined Immunodeficiency (SCID) Infants Receiving Unconditioned Hematopoietic Stem Cell Transplant (HSCT) Withdrawn NCT02177760 Phase 2 Sirolimus
37 Treatment of SCID Due to ADA Deficiency With Autologous Cord Blood or Bone Marrow CD34+ Cells Transduced With a Human ADA Gene Completed NCT00018018 Phase 1 CD34+ cells transduced with ADA retrovir
38 Ex Vivo Retroviral Gene Transfer For Treatment of X-Linked Severe Combined Immunodeficiency (XSCID) Completed NCT00028236 Phase 1 Gene-Transduced Autologous CD34+ Stem Cells
39 Transplantation of Highly Purified Haploidentical CD133 Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome Completed NCT00152100 Phase 1 Filgrastim, Alemtuzumab
40 Induction of Mixed Hematopoietic Chimerism in Patients With Severe Combined Immunodeficiency Disorders Using Allogeneic Bone Marrow and Post-Transplant Immunosuppression With Cyclosporine and Mycophenolate Mofetil Completed NCT00008450 Phase 1 Cyclosporine;Mycophenolate Mofetil
41 Neurotrophic Effects of Immunophilin Ligands on Human Hair Follicles Grafted Onto Service Combined Immunodeficient (SCID) Mice Completed NCT00177099 Phase 1 FK506, GP11046, GP11511
42 Treatment of SCID Due to ADA Deficiency With Autologous Transplantation of Cord Blood or Hematopoietic CD 34+ Cells After Addition of a Normal Human ADA cDNA by the EFS-ADA Lentiviral Vector Completed NCT02022696 Phase 1
43 Phase I/II Study of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Recruiting NCT03601286 Phase 1 Lentiviral vector transduced CD34+ cells
44 A Phase I Study To Evaluate The Safety And Tolerability of JSP191 For Hematopoietic Cell Transplantation Conditioning To Achieve Engraftment And Immune Reconstitution In Subjects With SCID Recruiting NCT02963064 Phase 1
45 Safety and Early Efficacy Study of TBX-1400 in Patients With Severe Combined Immunodeficiency Not yet recruiting NCT02860559 Phase 1
46 Gene Therapy for SCID-X1 Using a Self-inactivating (SIN) Gammaretroviral Vector Unknown status NCT01175239
47 Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China Unknown status NCT02231983
48 Personality Pathology and Cerebral Processing in Eating Disorders Unknown status NCT02980120
49 Evaluation of the Clinical Utility and Cost Effectiveness Ratio of Generalized Neonatal Screening for Severe Combined Immunodeficiencies (SCID) by Quantification of TRECs on Guthrie Cards Completed NCT02244450
50 Treatment of Severe Combined Immunodeficiency Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency With Autologous Lymphocytes of CD34+ Cells Transduced With a Human ADA Gene: A Natural History Study Completed NCT00001255 ADA PBSC;ADA Umbilical Cord Blood Cells;Transduced Lymphocytes

Search NIH Clinical Center for Severe Combined Immunodeficiency

Inferred drug relations via UMLS 70 / NDF-RT 51 :


pegademase bovine

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Severe Combined Immunodeficiency cell therapies at LifeMap Discovery.

Genetic Tests for Severe Combined Immunodeficiency

Genetic tests related to Severe Combined Immunodeficiency:

# Genetic test Affiliating Genes
1 Severe Combined Immunodeficiency Disease 29

Anatomical Context for Severe Combined Immunodeficiency

MalaCards organs/tissues related to Severe Combined Immunodeficiency:

40
T Cells, Bone Marrow, Prostate, Skin, Myeloid, B Cells, Endothelial
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Severe Combined Immunodeficiency:
# Tissue Anatomical CompartmentCell Relevance
1 Blood Peripheral Blood B-cell Progenitor Cells Affected by disease
2 Blood Hematopoietic Bone Marrow Hematopoietic Stem Cells Potential therapeutic candidate
3 Blood Peripheral Blood Natural Killer Cells Affected by disease

Publications for Severe Combined Immunodeficiency

Articles related to Severe Combined Immunodeficiency:

(show top 50) (show all 21017)
# Title Authors PMID Year
1
Gene therapy for immunodeficiency due to adenosine deaminase deficiency. 54 61 6
19179314 2009
2
Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients. 54 6 61
15661025 2005
3
Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment. 54 6 61
9753072 1998
4
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. 6 61
27484032 2016
5
Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities. 6 61
26255240 2015
6
Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt. 61 6
25869295 2015
7
Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. 6 61
21664875 2011
8
Molecular diagnosis of severe combined immunodeficiency--identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children. 61 6
21184155 2011
9
Highly variable clinical phenotypes of hypomorphic RAG1 mutations. 6 61
20956421 2010
10
Why newborn screening for severe combined immunodeficiency is essential: a case report. 61 6
20603253 2010
11
Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray. 61 6
18641513 2008
12
IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD. 61 6
17827065 2007
13
GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. 61 6
17572155 2007
14
Mutational analysis of all conserved basic amino acids in RAG-1 reveals catalytic, step arrest, and joining-deficient mutants in the V(D)J recombinase. 6 61
11971977 2002
15
The genetic and biochemical basis of Omenn syndrome. 61 6
11213808 2000
16
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. 61 6
9758612 1998
17
Structural and functional basis for JAK3-deficient severe combined immunodeficiency. 6 61
9354668 1997
18
Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders. 6
30290665 2018
19
Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis. 6
22447032 2012
20
A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction. 6
18768869 2008
21
Somatic mutations of JAK1 and JAK3 in acute leukemias and solid cancers. 6
18559588 2008
22
An immunodeficiency disease with RAG mutations and granulomas. 6
18463379 2008
23
Omenn syndrome in an infant with IL7RA gene mutation. 6
16492442 2006
24
Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination. 54 61
20234091 2010
25
Human bone marrow mesenchymal stem cells expressing SDF-1 promote hematopoietic stem cell function of human mobilised peripheral blood CD34+ cells in vivo and in vitro. 54 61
20201651 2010
26
The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events. 54 61
19953608 2010
27
NSC114792, a novel small molecule identified through structure-based computational database screening, selectively inhibits JAK3. 54 61
20149240 2010
28
JAK3 inhibitors in organ transplantation and autoimmune disease. 61 54
19832695 2010
29
New insights into the pathogenesis of adenosine deaminase-severe combined immunodeficiency and progress in gene therapy. 54 61
19779332 2009
30
Dengue virus infection and virus-specific HLA-A2 restricted immune responses in humanized NOD-scid IL2rgammanull mice. 61 54
19802382 2009
31
Integration of retroviral vectors induces minor changes in the transcriptional activity of T cells from ADA-SCID patients treated with gene therapy. 61 54
19652199 2009
32
[A compound heterozygosity mutation in the interleukin-7 receptor-alpha gene resulted in severe combined immunodeficiency in a Chinese patient]. 54 61
20021794 2009
33
Eosinophil-derived IFN-gamma induces airway hyperresponsiveness and lung inflammation in the absence of lymphocytes. 54 61
19539982 2009
34
Expression of the leukemia oncogene Lmo2 is controlled by an array of tissue-specific elements dispersed over 100 kb and bound by Tal1/Lmo2, Ets, and Gata factors. 61 54
19171877 2009
35
Lentiviral-mediated genetic correction of hematopoietic and mesenchymal progenitor cells from Fanconi anemia patients. 54 61
19277017 2009
36
Immunologic analysis of HIV-uninfected Taiwanese children with BCG-induced disease. 61 54
19089604 2009
37
A novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient: a case report. 61 54
19830125 2009
38
Progress in genetic therapy for severe combined immunodeficiency associated with adenosine deaminase deficiency. 61 54
19337228 2009
39
Janus kinases in immune cell signaling. 61 54
19290934 2009
40
Novel RAG2 mutation in a patient with T- B- severe combined immunodeficiency and disseminated BCG disease. 61 54
20128425 2009
41
Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency. 61 54
18509675 2009
42
Cognitive and behavioral abnormalities in children after hematopoietic stem cell transplantation for severe congenital immunodeficiencies. 54 61
18645040 2008
43
Cutaneous granulomas with predominantly CD8(+) lymphocytic infiltrate in a child with severe combined immunodeficiency. 54 61
18845095 2008
44
Disease-specific induced pluripotent stem cells. 61 54
18691744 2008
45
[Adenosine deaminase deficiency associated severe combined immunodeficiency with disseminated varicella infection after vaccination: a case report]. 61 54
19099832 2008
46
Altered intracellular and extracellular signaling leads to impaired T-cell functions in ADA-SCID patients. 61 54
18218852 2008
47
Restoration of human B-cell differentiation into NOD-SCID mice engrafted with gene-corrected CD34+ cells isolated from Artemis or RAG1-deficient patients. 54 61
18223550 2008
48
Genetic variations in DNA repair genes, radiosensitivity to cancer and susceptibility to acute tissue reactions in radiotherapy-treated cancer patients. 61 54
18568480 2008
49
Interleukin-4-transgenic hu-PBL-SCID mice: a model for the screening of antiviral drugs and immunotherapeutic agents against X4 HIV-1 viruses. 54 61
18171296 2008
50
Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency. 54 61
17910661 2007

Variations for Severe Combined Immunodeficiency

ClinVar genetic disease variations for Severe Combined Immunodeficiency:

6 (show all 46)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IL7R NM_002185.5(IL7R):c.707-2A>G SNV Pathogenic 599352 rs1561424886 GRCh37: 5:35874549-35874549
GRCh38: 5:35874447-35874447
2 ADA NM_000022.4(ADA):c.845G>A (p.Arg282Gln) SNV Pathogenic 402341 rs751635016 GRCh37: 20:43251229-43251229
GRCh38: 20:44622588-44622588
3 RAG1 NM_000448.2(RAG1):c.2924G>A (p.Arg975Gln) SNV Pathogenic 68693 rs150739647 GRCh37: 11:36597778-36597778
GRCh38: 11:36576228-36576228
4 IL7R NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr) SNV Pathogenic 36392 rs193922641 GRCh37: 5:35867539-35867539
GRCh38: 5:35867437-35867437
5 ADA NM_000022.4(ADA):c.466C>T (p.Arg156Cys) SNV Pathogenic 1970 rs121908735 GRCh37: 20:43254222-43254222
GRCh38: 20:44625581-44625581
6 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) SNV Likely pathogenic 42901 rs3218716 GRCh37: 14:23894525-23894525
GRCh38: 14:23425316-23425316
7 RAG2 NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) SNV Likely pathogenic 36716 rs148508754 GRCh37: 11:36615615-36615615
GRCh38: 11:36594065-36594065
8 RAG2 NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) SNV Likely pathogenic 36719 rs193922574 GRCh37: 11:36615502-36615502
GRCh38: 11:36593952-36593952
9 RAG2 NM_000536.4(RAG2):c.328A>C (p.Met110Leu) SNV Likely pathogenic 36720 rs193922575 GRCh37: 11:36615391-36615391
GRCh38: 11:36593841-36593841
10 MYOC NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) SNV Likely pathogenic 7949 rs74315329 GRCh37: 1:171605478-171605478
GRCh38: 1:171636338-171636338
11 RAC2 NM_002872.5(RAC2):c.184G>A (p.Glu62Lys) SNV Likely pathogenic 464885 rs1555908409 GRCh37: 22:37628882-37628882
GRCh38: 22:37232842-37232842
12 DCLRE1C NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn) SNV Likely pathogenic 986350 GRCh37: 10:14977520-14977520
GRCh38: 10:14935521-14935521
13 RAG1 NM_000448.2(RAG1):c.2603C>T (p.Ala868Val) SNV Likely pathogenic 36712 rs193922462 GRCh37: 11:36597457-36597457
GRCh38: 11:36575907-36575907
14 RAG1 NM_000448.2(RAG1):c.322C>T (p.Arg108Ter) SNV Likely pathogenic 36714 rs193922464 GRCh37: 11:36595176-36595176
GRCh38: 11:36573626-36573626
15 JAK3 NM_000215.3(JAK3):c.2143G>A (p.Val715Ile) SNV Likely pathogenic 376714 rs1057520020 GRCh37: 19:17945717-17945717
GRCh38: 19:17834908-17834908
16 JAK3 NM_000215.3(JAK3):c.1744C>T (p.Arg582Trp) SNV Likely pathogenic 36415 rs193922361 GRCh37: 19:17947980-17947980
GRCh38: 19:17837171-17837171
17 JAK3 NM_000215.3(JAK3):c.2683_2704del (p.Arg895fs) Deletion Likely pathogenic 495737 rs1555743321 GRCh37: 19:17942584-17942605
GRCh38: 19:17831775-17831796
18 JAK3 NM_000215.3(JAK3):c.678_679del (p.Cys227fs) Deletion Likely pathogenic 36423 rs193922364 GRCh37: 19:17953307-17953308
GRCh38: 19:17842498-17842499
19 ADA NM_000022.4(ADA):c.396dup (p.Val133fs) Duplication Likely pathogenic 550821 rs1555844617 GRCh37: 20:43254291-43254292
GRCh38: 20:44625650-44625651
20 ADA NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) Deletion Likely pathogenic 505549 rs886041796 GRCh37: 20:43252917-43252917
GRCh38: 20:44624276-44624276
21 IL7R NM_002185.5(IL7R):c.644G>T (p.Gly215Val) SNV Likely pathogenic 36396 rs193922645 GRCh37: 5:35873688-35873688
GRCh38: 5:35873586-35873586
22 JAK3 NM_000215.3(JAK3):c.1767C>T (p.Gly589=) SNV Likely pathogenic 36416 rs193922362 GRCh37: 19:17947957-17947957
GRCh38: 19:17837148-17837148
23 ADA NM_000022.4(ADA):c.872C>G (p.Ser291Trp) SNV Likely pathogenic 35654 rs121908721 GRCh37: 20:43249762-43249762
GRCh38: 20:44621121-44621121
24 IL7R NM_002185.5(IL7R):c.271_280dup (p.Ile94fs) Duplication Likely pathogenic 36391 rs193922640 GRCh37: 5:35867456-35867457
GRCh38: 5:35867354-35867355
25 IL7R NM_002185.5(IL7R):c.539A>C (p.His180Pro) SNV Likely pathogenic 36393 rs193922642 GRCh37: 5:35873583-35873583
GRCh38: 5:35873481-35873481
26 IL7R NM_002185.5(IL7R):c.616_617delinsTA (p.Arg206Ter) Indel Likely pathogenic 36394 rs193922643 GRCh37: 5:35873660-35873661
GRCh38: 5:35873558-35873559
27 IL7R NM_002185.5(IL7R):c.83-18A>G SNV Uncertain significance 36397 rs193922646 GRCh37: 5:35860936-35860936
GRCh38: 5:35860834-35860834
28 CD3E NM_000733.3(CD3E):c.567+65_567+66del Deletion Uncertain significance 35808 rs386134229 GRCh37: 11:118185273-118185274
GRCh38: 11:118314558-118314559
29 CD3E NM_000733.3(CD3E):c.70+4del Deletion Uncertain significance 35809 rs193922619 GRCh37: 11:118178027-118178027
GRCh38: 11:118307312-118307312
30 CD3E NM_000733.3(CD3E):c.*98_*101dup Duplication Uncertain significance 35810 rs193922618 GRCh37: 11:118186354-118186355
GRCh38: 11:118315639-118315640
31 CD3D NM_000732.4(CD3D):c.450+6C>T SNV Uncertain significance 35805 rs193922617 GRCh37: 11:118210160-118210160
GRCh38: 11:118339445-118339445
32 CD3E NM_000733.3(CD3E):c.498G>A (p.Ala166=) SNV Likely benign 35806 rs78373007 GRCh37: 11:118184567-118184567
GRCh38: 11:118313852-118313852
33 CD3E NM_000733.3(CD3E):c.507C>T (p.Gly169=) SNV Likely benign 35807 rs2231447 GRCh37: 11:118184576-118184576
GRCh38: 11:118313861-118313861
34 RAG1 NM_000448.2(RAG1):c.189A>G (p.Pro63=) SNV Likely benign 36711 rs34357808 GRCh37: 11:36595043-36595043
GRCh38: 11:36573493-36573493
35 JAK3 NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) SNV Likely benign 36422 rs55778349 GRCh37: 19:17953950-17953950
GRCh38: 19:17843141-17843141
36 ZAP70 NM_001079.3(ZAP70):c.1155C>T (p.Arg385=) SNV Likely benign 36914 rs193922633 GRCh37: 2:98351785-98351785
GRCh38: 2:97735322-97735322
37 JAK3 NM_000215.3(JAK3):c.1890G>A (p.Gln630=) SNV Likely benign 36417 rs193922363 GRCh37: 19:17946757-17946757
GRCh38: 19:17835948-17835948
38 JAK3 NM_000215.3(JAK3):c.3096+18A>G SNV Benign 36421 rs2302603 GRCh37: 19:17941294-17941294
GRCh38: 19:17830485-17830485
39 RAG1 NM_000448.2(RAG1):c.906C>A (p.Asp302Glu) SNV Benign 36715 rs4151030 GRCh37: 11:36595760-36595760
GRCh38: 11:36574210-36574210
40 JAK3 NM_000215.3(JAK3):c.2259C>T (p.Ala753=) SNV Benign 36418 rs35458530 GRCh37: 19:17945471-17945471
GRCh38: 19:17834662-17834662
41 JAK3 NM_000215.3(JAK3):c.2625C>T (p.Leu875=) SNV Benign 36419 rs2230589 GRCh37: 19:17943383-17943383
GRCh38: 19:17832574-17832574
42 JAK3 NM_000215.3(JAK3):c.308+16del Deletion Benign 36420 rs3212717 GRCh37: 19:17954570-17954570
GRCh38: 19:17843761-17843761
43 ADA NM_000022.4(ADA):c.390G>A (p.Val130=) SNV Benign 35653 rs61737144 GRCh37: 20:43254298-43254298
GRCh38: 20:44625657-44625657
44 DCLRE1C NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) SNV Benign 35999 rs35441642 GRCh37: 10:14976727-14976727
GRCh38: 10:14934728-14934728
45 DCLRE1C NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=) SNV Benign 36000 rs7076862 GRCh37: 10:14976414-14976414
GRCh38: 10:14934415-14934415
46 JAK3 NM_000215.3(JAK3):c.1291C>T (p.Arg431Trp) SNV not provided 440938 rs1274345651 GRCh37: 19:17950436-17950436
GRCh38: 19:17839627-17839627

Copy number variations for Severe Combined Immunodeficiency from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 209902 16 28100000 34600000 Deletion CORO1A Severe combined immunodeficiency

Expression for Severe Combined Immunodeficiency

Search GEO for disease gene expression data for Severe Combined Immunodeficiency.

Pathways for Severe Combined Immunodeficiency

Pathways related to Severe Combined Immunodeficiency according to GeneCards Suite gene sharing:

(show all 48)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.01 ZAP70 RAG2 RAG1 PTPRC PRKDC JAK3
2
Show member pathways
13.72 ZAP70 RAC2 PRKDC MYH7 JAK3 IL7R
3
Show member pathways
13.34 RAG2 RAG1 JAK3 IL7R IL7 IL2RG
4
Show member pathways
13.28 RAC2 PTPRC MYH7 IL7R IL7 IL2RG
5
Show member pathways
13.21 ZAP70 RAC2 PRKDC JAK3 IL7R IL7
6
Show member pathways
12.83 RAC2 MYH7 IL2 CD3E CD3D
7 12.82 RAC2 JAK3 IL7R IL7 IL2RG IL2
8
Show member pathways
12.8 JAK3 IL2RG IL2 CD3E CD3D
9
Show member pathways
12.75 JAK3 IL7R IL7 IL2RG IL2
10
Show member pathways
12.65 ZAP70 RAC2 PTPRC CD3E CD3D
11
Show member pathways
12.61 ZAP70 PTPRC IL2 CD3E CD3D
12
Show member pathways
12.59 ZAP70 PTPRC IL2 CD3E CD3D
13
Show member pathways
12.51 ZAP70 JAK3 IL2RG IL2 CD3E CD3D
14 12.48 PRKDC NHEJ1 LIG4 DCLRE1C
15
Show member pathways
12.44 ZAP70 RAC2 PTPRC CD3E CD3D
16
Show member pathways
12.38 JAK3 IL7R IL7 IL2RG IL2
17 12.38 ZAP70 RAG1 PTPRC JAK3 IL2 DCLRE1C
18
Show member pathways
12.35 PRKDC NHEJ1 LIG4 DCLRE1C
19
Show member pathways
12.33 ZAP70 PTPRC CD3E CD3D
20 12.3 JAK3 IL2RG IL2 CD3E CD3D
21
Show member pathways
12.18 ZAP70 RAC2 PTPRC IL2RG IL2 CD3E
22
Show member pathways
12.13 RAC2 JAK3 IL2RG IL2
23
Show member pathways
11.99 ZAP70 IL2 CD3E CD3D
24
Show member pathways
11.97 IL2RG IL2 CD3E CD3D
25
Show member pathways
11.94 ZAP70 PTPRC CD3E CD3D
26 11.93 ZAP70 RAC2 CD3E CD3D
27
Show member pathways
11.93 ZAP70 PTPRC CD3E CD3D
28 11.87 IL7R IL7 CD3E CD3D
29 11.87 PTPRC IL7R IL7 IL2 CD3E
30
Show member pathways
11.84 JAK3 IL2RG CD3E
31 11.75 PTPRC IL7R IL7 IL2
32 11.74 PTPRC CD3E CD3D
33 11.73 ZAP70 CD3E CD3D
34 11.7 ZAP70 CD3E CD3D
35 11.69 PTPRC IL7R IL2 CD3E
36
Show member pathways
11.67 JAK3 IL2RG IL2
37
Show member pathways
11.56 IL2RG IL2 CD3E CD3D
38 11.53 ZAP70 CD3E CD3D
39 11.49 PTPRC JAK3 IL7R IL7 IL2RG IL2
40 11.42 JAK3 IL2RG IL2 CD3E
41
Show member pathways
11.38 JAK3 IL7R IL7 IL2RG
42
Show member pathways
11.37 IL2RG IL2 CD3D
43 11.32 ZAP70 IL2RG IL2
44 11.23 IL2 CD3E CD3D
45
Show member pathways
11.2 JAK3 IL2RG IL2
46 11.12 PRKDC LIG4 DCLRE1C
47 10.94 ZAP70 RAG2 RAG1 PTPRC JAK3 IL7R
48 10.88 RAG2 RAG1 JAK3 IL7R IL7 IL2RG

GO Terms for Severe Combined Immunodeficiency

Cellular components related to Severe Combined Immunodeficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.43 PTPRC IL7R IL2RG CD3E CD3D ADA
2 alpha-beta T cell receptor complex GO:0042105 9.37 CD3E CD3D
3 DNA-dependent protein kinase-DNA ligase 4 complex GO:0005958 9.32 PRKDC LIG4
4 DNA ligase IV complex GO:0032807 9.26 NHEJ1 LIG4
5 DNA recombinase complex GO:0097519 9.16 RAG2 RAG1
6 nonhomologous end joining complex GO:0070419 8.92 PRKDC NHEJ1 LIG4 DCLRE1C

Biological processes related to Severe Combined Immunodeficiency according to GeneCards Suite gene sharing:

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 10.16 ZAP70 PRKDC JAK3 IL2 DCLRE1C CD3E
2 immune response GO:0006955 10.09 ZAP70 RAG1 IL7R IL7 IL2RG IL2
3 adaptive immune response GO:0002250 10.05 ZAP70 RAG1 JAK3 IL2 DCLRE1C CD3E
4 cell surface receptor signaling pathway GO:0007166 9.99 PTPRC IL7R CD3E CD3D
5 cytokine-mediated signaling pathway GO:0019221 9.99 JAK3 IL7 IL2RG IL2
6 T cell receptor signaling pathway GO:0050852 9.95 ZAP70 PTPRC CD3E CD3D
7 double-strand break repair via nonhomologous end joining GO:0006303 9.89 PRKDC NHEJ1 LIG4 DCLRE1C
8 double-strand break repair GO:0006302 9.88 PRKDC NHEJ1 LIG4 DCLRE1C
9 positive regulation of T cell proliferation GO:0042102 9.88 PTPRC JAK3 IL2 CD3E
10 response to ionizing radiation GO:0010212 9.85 PRKDC NHEJ1 LIG4 DCLRE1C
11 DNA recombination GO:0006310 9.85 RAG2 RAG1 PRKDC LIG4 DCLRE1C
12 T cell activation GO:0042110 9.84 ZAP70 PTPRC CD3E ADA
13 response to gamma radiation GO:0010332 9.78 PTPRC PRKDC LIG4
14 positive regulation of B cell proliferation GO:0030890 9.78 PTPRC IL7 IL2 ADA
15 positive regulation of calcium-mediated signaling GO:0050850 9.77 ZAP70 CD3E ADA
16 negative thymic T cell selection GO:0045060 9.74 ZAP70 PTPRC CD3E
17 interleukin-2-mediated signaling pathway GO:0038110 9.73 JAK3 IL2RG IL2
18 B cell differentiation GO:0030183 9.73 RAG2 RAG1 PTPRC NHEJ1 JAK3 DCLRE1C
19 T cell differentiation in thymus GO:0033077 9.72 RAG2 RAG1 PRKDC LIG4 CD3E
20 interleukin-7-mediated signaling pathway GO:0038111 9.71 JAK3 IL7R IL7 IL2RG
21 positive regulation of alpha-beta T cell proliferation GO:0046641 9.7 ZAP70 PTPRC CD3E
22 regulation of T cell differentiation GO:0045580 9.69 RAG1 ADA
23 interleukin-15-mediated signaling pathway GO:0035723 9.68 JAK3 IL2RG
24 positive regulation of organ growth GO:0046622 9.68 RAG2 IL7
25 positive regulation of alpha-beta T cell differentiation GO:0046638 9.68 ZAP70 ADA
26 regulation of JAK-STAT cascade GO:0046425 9.68 PTPRC JAK3
27 positive regulation of T cell differentiation in thymus GO:0033089 9.67 IL7R ADA
28 negative regulation of T cell apoptotic process GO:0070233 9.67 RAG1 IL7R
29 positive regulation of isotype switching to IgG isotypes GO:0048304 9.67 PTPRC IL2
30 negative regulation of thymocyte apoptotic process GO:0070244 9.67 RAG1 JAK3 ADA
31 positive thymic T cell selection GO:0045059 9.67 ZAP70 PTPRC CD3E CD3D
32 interleukin-9-mediated signaling pathway GO:0038113 9.66 JAK3 IL2RG
33 interleukin-21-mediated signaling pathway GO:0038114 9.66 JAK3 IL2RG
34 negative regulation of T cell mediated cytotoxicity GO:0001915 9.65 PTPRC IL7R
35 T cell receptor V(D)J recombination GO:0033153 9.65 PRKDC LIG4
36 B cell lineage commitment GO:0002326 9.64 RAG2 PRKDC
37 interleukin-4-mediated signaling pathway GO:0035771 9.64 JAK3 IL2RG
38 immunoglobulin V(D)J recombination GO:0033152 9.63 PRKDC LIG4
39 pro-B cell differentiation GO:0002328 9.63 PRKDC LIG4
40 T cell differentiation GO:0030217 9.63 ZAP70 RAG2 PTPRC NHEJ1 IL7R IL2
41 pre-B cell allelic exclusion GO:0002331 9.62 RAG2 RAG1
42 T cell lineage commitment GO:0002360 9.61 RAG2 PRKDC IL7
43 V(D)J recombination GO:0033151 9.35 RAG2 RAG1 PRKDC LIG4 DCLRE1C
44 positive regulation of T cell differentiation GO:0045582 9.1 ZAP70 RAG1 PTPRC IL7 IL2 ADA

Molecular functions related to Severe Combined Immunodeficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.96 ZAP70 RAG2 RAG1 RAC2 PTPRC PRKDC
2 interleukin-7 receptor activity GO:0004917 8.62 IL7R IL2RG

Sources for Severe Combined Immunodeficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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