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SCID
MCID: SVR004
MIFTS: 72

Severe Combined Immunodeficiency (SCID)

Categories: Blood diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Severe Combined Immunodeficiency

About this section

MalaCards integrated aliases for Severe Combined Immunodeficiency:

Name: Severe Combined Immunodeficiency 12 74 20 58 54 15 37 71
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:

MalaCards categories:
Global: Rare diseases
Anatomical: Immune diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
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 72 C0085110
Orphanet 58 ORPHA183660
UMLS 71 C0085110
Sources

Summaries for Severe Combined Immunodeficiency

About this section
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 Norepinephrine 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 : 74 Severe combined immunodeficiency (SCID), also known as Swiss-type agammaglobulinemia, is a rare genetic... more...

Sources

Related Diseases for Severe Combined Immunodeficiency

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

(show top 50) (show all 830)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency, x-linked 33.9 JAK3 IL9 IL7R IL7 IL2RG IL2
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 ADA
6 t-b- severe combined immunodeficiency 33.4 RAG2 JAK3 DCLRE1C
7 bare lymphocyte syndrome, type ii 33.4 ZAP70 RAG2 RAG1 NHEJ1 LIG4 JAK3
8 reticular dysgenesis 33.4 NHEJ1 JAK3 IL2RG DCLRE1C CD3D ADA
9 immunodeficiency 19 33.3 ZAP70 CD3D ADA
10 jak3-deficient severe combined immunodeficiency 33.3 JAK3 IL9 IL2
11 immunodeficiency 18 33.3 RAG1 CD3E CD3D
12 omenn syndrome 33.1 ZAP70 RAG2 RAG1 PTPRC PRKDC NHEJ1
13 t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta 32.7 CD3E CD3D
14 lig4 syndrome 32.5 RAG2 RAG1 PRKDC NHEJ1 LIG4 DCLRE1C
15 purine nucleoside phosphorylase deficiency 32.4 ZAP70 RAG1 NHEJ1 DCLRE1C ADA
16 janus kinase-3 deficiency 32.4 LIG4 JAK3 IL2RG
17 recombinase activating gene 1 deficiency 32.4 RAG2 RAG1
18 cd45 deficiency 32.4 ZAP70 PTPRC
19 coronin-1a deficiency 32.3 DCLRE1C CD3D
20 combined immunodeficiency 32.2 ZAP70 RAG2 RAG1 RAC2 PTPRC PRKDC
21 immune deficiency disease 32.2 ZAP70 RAG2 RAG1 RAC2 PTPRC MYOC
22 lymphopenia 31.6 RAG1 RAC2 MYOC MYH7 JAK3 IL7R
23 leukemia, acute lymphoblastic 31.3 ZAP70 RAG1 PTPRC JAK3 IL7R IL7
24 digeorge syndrome 31.3 RAG1 IL7 IL2RG DCLRE1C
25 immunodeficiency 41 with lymphoproliferation and autoimmunity 31.2 IL7R IL2RG IL2
26 t cell deficiency 31.1 ZAP70 RAG2 RAG1 PTPRC IL7R IL7
27 t-cell lymphoblastic leukemia/lymphoma 31.1 ZAP70 RAG1 PTPRC IL9 IL2 ADA
28 t-cell acute lymphoblastic leukemia 31.0 RAG1 PTPRC JAK3 IL7R IL7 IL2
29 ataxia-telangiectasia 30.9 RAG1 PRKDC LIG4 DCLRE1C
30 combined cellular and humoral immune defects with granulomas 30.9 RAG2 RAG1
31 autoimmune disease 30.8 ZAP70 JAK3 IL9 IL7R IL2
32 sarcoidosis 1 30.8 PTPRC IL9 IL2 ADA
33 lymphoma, non-hodgkin, familial 30.7 RAG1 PTPRC IL9 IL7 IL2
34 tetanus 30.7 IL9 IL7R IL2
35 common variable immunodeficiency 30.6 ZAP70 RAG2 RAG1 RAC2 JAK3 IL7
36 cd40 ligand deficiency 30.6 ZAP70 JAK3 IL2RG DCLRE1C
37 human immunodeficiency virus infectious disease 30.5 PTPRC IL7R IL7 IL2 ADA
38 anaplastic large cell lymphoma 30.4 PTPRC JAK3 IL9
39 leukemia, chronic lymphocytic 30.4 ZAP70 PTPRC IL7 IL2 ADA
40 lymphoma, hodgkin, classic 30.4 PTPRC IL9 IL2
41 childhood t-cell acute lymphoblastic leukemia 30.2 IL7R IL7 IL2
42 nijmegen breakage syndrome 30.2 PRKDC NHEJ1 LIG4 DCLRE1C
43 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 11.9
44 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 11.8
45 short-limb skeletal dysplasia with severe combined immunodeficiency 11.8
46 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 11.7
47 immunodeficiency 22 11.7
48 zap70-related severe combined immunodeficiency 11.7
49 immunodeficiency 49 11.6
50 immunodeficiency 52 11.6

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



Diseases related to Severe Combined Immunodeficiency
Sources

Symptoms & Phenotypes for Severe Combined Immunodeficiency

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Human phenotypes related to Severe Combined Immunodeficiency:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
3 fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001945
4 chronic diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002028
5 sepsis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100806
6 severe combined immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0004430
7 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
8 lymphopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001888
9 skin rash 58 31 frequent (33%) Frequent (79-30%) HP:0000988
10 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
11 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
12 chronic otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000389
13 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
14 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
15 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
16 recurrent urinary tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0000010
17 immunodeficiency 58 Very frequent (99-80%)
18 abnormality of the lymphatic system 58 Very frequent (99-80%)

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.98 PTPRC
2 Decreased viability GR00107-A-1 9.98 ZAP70
3 Decreased viability GR00221-A-1 9.98 PRKDC ZAP70
4 Decreased viability GR00221-A-2 9.98 ZAP70
5 Decreased viability GR00221-A-3 9.98 JAK3
6 Decreased viability GR00221-A-4 9.98 LIG4
7 Decreased viability GR00249-S 9.98 CD3D LIG4 PRKDC RAC2 ZAP70
8 Decreased viability GR00381-A-1 9.98 LIG4 MYOC
9 Decreased viability GR00386-A-1 9.98 IL7 RAC2 RAG2
10 Decreased viability GR00402-S-2 9.98 CD3E IL2 JAK3 LIG4
11 Reduced mammosphere formation GR00396-S 9.17 CD3D DCLRE1C IL9 JAK3 PRKDC PTPRC

MGI Mouse Phenotypes related to Severe Combined Immunodeficiency:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.39 ADA CD3D CD3E DCLRE1C IL2 IL2RG
2 cellular MP:0005384 10.37 ADA CD3E DCLRE1C IL2 IL2RG IL7R
3 immune system MP:0005387 10.36 ADA CD3D CD3E DCLRE1C IL2 IL2RG
4 endocrine/exocrine gland MP:0005379 10.33 ADA CD3E DCLRE1C IL2 IL2RG IL7
5 digestive/alimentary MP:0005381 10.18 ADA IL2 IL2RG IL9 JAK3 LIG4
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 9.65 ADA IL2RG IL7R IL9 MYH7 MYOC
11 respiratory system MP:0005388 9.23 ADA IL2 IL2RG PRKDC PTPRC RAG1
Sources

Drugs & Therapeutics for Severe Combined Immunodeficiency

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

(show top 50) (show all 99)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Norepinephrine Approved Phase 4 51-41-2 439260
3
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
4 Neurotransmitter Agents Phase 4
5 Analgesics Phase 4
6 Dopamine Agents Phase 4
7 Antidepressive Agents Phase 4
8 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
9 Psychotropic Drugs Phase 4
10 Duloxetine Hydrochloride Phase 4
11 Monoamine Oxidase Inhibitors Phase 4
12
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
13
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
14
Adenosine Approved, Investigational Phase 2, Phase 3 58-61-7 60961
15 Immunoglobulin G Phase 3
16 gamma-Globulins Phase 3
17 Immunoglobulins, Intravenous Phase 3
18 Rho(D) Immune Globulin Phase 3
19
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
20
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
21
Busulfan Approved, Investigational Phase 2 55-98-1 2478
22
Mycophenolic acid Approved Phase 2 24280-93-1 446541
23
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
24
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
25
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
26
alemtuzumab Approved, Investigational Phase 2 216503-57-0
27
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
28
Melphalan Approved Phase 2 148-82-3 4053 460612
29
Lenograstim Approved, Investigational Phase 2 135968-09-1
30
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
31
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
32
Phenylalanine Approved, Investigational, Nutraceutical Phase 2 63-91-2 6140
33 Immunologic Factors Phase 2
34 Vitamin B Complex Phase 2
35 Folic Acid Antagonists Phase 2
36 Antimetabolites Phase 2
37 Antirheumatic Agents Phase 2
38 Vitamin B9 Phase 2
39 Dermatologic Agents Phase 2
40 Folate Phase 2
41 Calcineurin Inhibitors Phase 2
42 Antitubercular Agents Phase 2
43 Immunosuppressive Agents Phase 2
44 Alkylating Agents Phase 2
45 Antilymphocyte Serum Phase 1, Phase 2
46 Thymoglobulin Phase 1, Phase 2
47 Hormones Phase 1, Phase 2
48 Antineoplastic Agents, Immunological Phase 1, Phase 2
49 Antibodies, Monoclonal Phase 1, Phase 2
50 Anti-HIV Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 80)
# 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/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
13 Phase I Gene Therapy Protocol for Adenosine Deaminase Deficiency Completed NCT01279720 Phase 1, Phase 2
14 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
15 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
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 Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning Recruiting NCT03311503 Phase 1, Phase 2
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 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
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 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
24 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
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 NCT03315078 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 NCT01306019 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 Transplantation of Highly Purified Haploidentical CD133 Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome Completed NCT00152100 Phase 1 Filgrastim, Alemtuzumab
39 Ex Vivo Retroviral Gene Transfer For Treatment of X-Linked Severe Combined Immunodeficiency (XSCID) Completed NCT00028236 Phase 1 Gene-Transduced Autologous CD34+ Stem Cells
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 71 / 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.
Stem-cell-based therapeutic approaches for Severe Combined Immunodeficiency:
ADA-transduced hematopoietic stem cells for severe combined immunodeficiency
ADA-transduced hematopoietic stem cells for severe combined immunodeficiency disease
Hemacord, umbilical cord blood-derived hematopoietic progenitor cells for hematopoietic reconstitution
Embryonic/Adult Cultured Cells Related to Severe Combined Immunodeficiency:
ADA-transduced bone marrow cells PMIDs: 19179314
ADAtransduced hematopoietic stem cells PMIDs: 19179314
Adenosine deaminase-transduced hematopoietic stem cells PMIDs: 16973956
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD) PMIDs: 9828244
Sources

Genetic Tests for Severe Combined Immunodeficiency

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Genetic tests related to Severe Combined Immunodeficiency:

# Genetic test Affiliating Genes
1 Severe Combined Immunodeficiency Disease 29
Sources

Anatomical Context for Severe Combined Immunodeficiency

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MalaCards organs/tissues related to Severe Combined Immunodeficiency:

40
T Cells, Bone Marrow, Prostate, B Cells, Myeloid, Endothelial, Colon
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
Sources

Publications for Severe Combined Immunodeficiency

About this section

Articles related to Severe Combined Immunodeficiency:

(show top 50) (show all 20834)
# Title Authors PMID Year
1
Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients. 6 54 61
15661025 2005
2
Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment. 61 54 6
9753072 1998
3
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. 6 61
21184155 2011
4
Why newborn screening for severe combined immunodeficiency is essential: a case report. 6 61
20603253 2010
5
Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray. 6 61
18641513 2008
6
IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD. 61 6
17827065 2007
7
Structural and functional basis for JAK3-deficient severe combined immunodeficiency. 6 61
9354668 1997
8
Omenn syndrome in an infant with IL7RA gene mutation. 6
16492442 2006
9
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
10
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. 61 54
20201651 2010
11
NSC114792, a novel small molecule identified through structure-based computational database screening, selectively inhibits JAK3. 54 61
20149240 2010
12
The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events. 54 61
19953608 2010
13
JAK3 inhibitors in organ transplantation and autoimmune disease. 54 61
19832695 2010
14
New insights into the pathogenesis of adenosine deaminase-severe combined immunodeficiency and progress in gene therapy. 61 54
19779332 2009
15
Integration of retroviral vectors induces minor changes in the transcriptional activity of T cells from ADA-SCID patients treated with gene therapy. 54 61
19652199 2009
16
Dengue virus infection and virus-specific HLA-A2 restricted immune responses in humanized NOD-scid IL2rgammanull mice. 61 54
19802382 2009
17
Eosinophil-derived IFN-gamma induces airway hyperresponsiveness and lung inflammation in the absence of lymphocytes. 61 54
19539982 2009
18
[A compound heterozygosity mutation in the interleukin-7 receptor-alpha gene resulted in severe combined immunodeficiency in a Chinese patient]. 61 54
20021794 2009
19
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. 54 61
19171877 2009
20
Lentiviral-mediated genetic correction of hematopoietic and mesenchymal progenitor cells from Fanconi anemia patients. 54 61
19277017 2009
21
Immunologic analysis of HIV-uninfected Taiwanese children with BCG-induced disease. 54 61
19089604 2009
22
A novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient: a case report. 61 54
19830125 2009
23
Progress in genetic therapy for severe combined immunodeficiency associated with adenosine deaminase deficiency. 54 61
19337228 2009
24
Janus kinases in immune cell signaling. 61 54
19290934 2009
25
Gene therapy for immunodeficiency due to adenosine deaminase deficiency. 54 61
19179314 2009
26
Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency. 61 54
18509675 2009
27
Novel RAG2 mutation in a patient with T- B- severe combined immunodeficiency and disseminated BCG disease. 61 54
20128425 2009
28
Cognitive and behavioral abnormalities in children after hematopoietic stem cell transplantation for severe congenital immunodeficiencies. 61 54
18645040 2008
29
Cutaneous granulomas with predominantly CD8(+) lymphocytic infiltrate in a child with severe combined immunodeficiency. 54 61
18845095 2008
30
Disease-specific induced pluripotent stem cells. 54 61
18691744 2008
31
[Adenosine deaminase deficiency associated severe combined immunodeficiency with disseminated varicella infection after vaccination: a case report]. 54 61
19099832 2008
32
Altered intracellular and extracellular signaling leads to impaired T-cell functions in ADA-SCID patients. 54 61
18218852 2008
33
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
34
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
35
Genetic variations in DNA repair genes, radiosensitivity to cancer and susceptibility to acute tissue reactions in radiotherapy-treated cancer patients. 54 61
18568480 2008
36
Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency. 61 54
17910661 2007
37
Crystallization and preliminary X-ray diffraction of human interleukin-7 bound to unglycosylated and glycosylated forms of its alpha-receptor. 61 54
17909291 2007
38
Burkitt's lymphoma in a patient with adenosine deaminase deficiency-severe combined immunodeficiency treated with polyethylene glycol-adenosine deaminase. 54 61
17586199 2007
39
Inhibition of CD26 in human cord blood CD34+ cells enhances their engraftment of nonobese diabetic/severe combined immunodeficiency mice. 61 54
17610364 2007
40
Autoimmune thyroiditis and acquired hypothyroidism in an infant with severe combined immunodeficiency due to adenosine deaminase deficiency. 54 61
17614781 2007
41
Aminohydrolases acting on adenine, adenosine and their derivatives. 54 61
17690732 2007
42
Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry. 61 54
17181544 2007
43
Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006). 61 54
17300989 2007
44
Nucleases of the metallo-beta-lactamase family and their role in DNA and RNA metabolism. 61 54
17453916 2007
45
Effect of hepatocyte growth factor on long term hematopoiesis of human progenitor cells in transgenic-severe combined immunodeficiency mice. 61 54
17512212 2007
46
[Expression anomalies of the CD3-TCR complex expression and immunodeficiencies]. 54 61
17291425 2007
47
Hematopoietic stem cell-engrafted NOD/SCID/IL2Rgamma null mice develop human lymphoid systems and induce long-lasting HIV-1 infection with specific humoral immune responses. 54 61
16954502 2007
48
WHIM syndrome myelokathexis reproduced in the NOD/SCID mouse xenotransplant model engrafted with healthy human stem cells transduced with C-terminus-truncated CXCR4. 61 54
16946301 2007
49
Interleukin 7 receptor alpha-chain-mutation severe combined immunodeficiency without lymphopenia: correction with haploidentical T-cell-depleted bone marrow transplantation. 61 54
17201233 2006
50
Complete correction of murine Artemis immunodeficiency by lentiviral vector-mediated gene transfer. 61 54
17062750 2006
Sources

Variations for Severe Combined Immunodeficiency

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ClinVar genetic disease variations for Severe Combined Immunodeficiency:

6 (show all 47)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IL7R NM_002185.5(IL7R):c.707-2A>G SNV Pathogenic 599352 rs1561424886 5:35874549-35874549 5:35874447-35874447
2 RAG1 NM_000448.2(RAG1):c.2924G>A (p.Arg975Gln) SNV Pathogenic 68693 rs150739647 11:36597778-36597778 11:36576228-36576228
3 ADA NM_000022.4(ADA):c.845G>A (p.Arg282Gln) SNV Pathogenic 402341 rs751635016 20:43251229-43251229 20:44622588-44622588
4 ADA NM_000022.4(ADA):c.424C>T (p.Arg142Ter) SNV Pathogenic 552928 rs780014431 20:43254264-43254264 20:44625623-44625623
5 IL7R NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr) SNV Pathogenic 36392 rs193922641 5:35867539-35867539 5:35867437-35867437
6 ADA NM_000022.4(ADA):c.466C>T (p.Arg156Cys) SNV Pathogenic 1970 rs121908735 20:43254222-43254222 20:44625581-44625581
7 RAG2 NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) SNV Likely pathogenic 36716 rs148508754 11:36615615-36615615 11:36594065-36594065
8 RAG2 NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) SNV Likely pathogenic 36719 rs193922574 11:36615502-36615502 11:36593952-36593952
9 RAG2 NM_000536.4(RAG2):c.328A>C (p.Met110Leu) SNV Likely pathogenic 36720 rs193922575 11:36615391-36615391 11:36593841-36593841
10 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) SNV Likely pathogenic 42901 rs3218716 14:23894525-23894525 14:23425316-23425316
11 MYOC NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) SNV Likely pathogenic 7949 rs74315329 1:171605478-171605478 1:171636338-171636338
12 RAC2 NM_002872.5(RAC2):c.184G>A (p.Glu62Lys) SNV Likely pathogenic 464885 rs1555908409 22:37628882-37628882 22:37232842-37232842
13 JAK3 NM_000215.3(JAK3):c.2683_2704del (p.Arg895fs) Deletion Likely pathogenic 495737 rs1555743321 19:17942584-17942605 19:17831775-17831796
14 RAG1 NM_000448.2(RAG1):c.2603C>T (p.Ala868Val) SNV Likely pathogenic 36712 rs193922462 11:36597457-36597457 11:36575907-36575907
15 RAG1 NM_000448.2(RAG1):c.322C>T (p.Arg108Ter) SNV Likely pathogenic 36714 rs193922464 11:36595176-36595176 11:36573626-36573626
16 ADA NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) Deletion Likely pathogenic 505549 rs886041796 20:43252917-43252917 20:44624276-44624276
17 DCLRE1C NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn) SNV Likely pathogenic 986350 10:14977520-14977520 10:14935521-14935521
18 ADA NM_000022.4(ADA):c.396dup (p.Val133fs) Duplication Likely pathogenic 550821 rs1555844617 20:43254291-43254292 20:44625650-44625651
19 ADA NM_000022.4(ADA):c.872C>G (p.Ser291Trp) SNV Likely pathogenic 35654 rs121908721 20:43249762-43249762 20:44621121-44621121
20 IL7R NM_002185.5(IL7R):c.271_280dup (p.Ile94fs) Duplication Likely pathogenic 36391 rs193922640 5:35867456-35867457 5:35867354-35867355
21 IL7R NM_002185.5(IL7R):c.539A>C (p.His180Pro) SNV Likely pathogenic 36393 rs193922642 5:35873583-35873583 5:35873481-35873481
22 IL7R NM_002185.5(IL7R):c.616_617delinsTA (p.Arg206Ter) Indel Likely pathogenic 36394 rs193922643 5:35873660-35873661 5:35873558-35873559
23 IL7R NM_002185.5(IL7R):c.644G>T (p.Gly215Val) SNV Likely pathogenic 36396 rs193922645 5:35873688-35873688 5:35873586-35873586
24 JAK3 NM_000215.3(JAK3):c.1744C>T (p.Arg582Trp) SNV Likely pathogenic 36415 rs193922361 19:17947980-17947980 19:17837171-17837171
25 JAK3 NM_000215.3(JAK3):c.1767C>T (p.Gly589=) SNV Likely pathogenic 36416 rs193922362 19:17947957-17947957 19:17837148-17837148
26 JAK3 NM_000215.3(JAK3):c.678_679del (p.Cys227fs) Deletion Likely pathogenic 36423 rs193922364 19:17953307-17953308 19:17842498-17842499
27 JAK3 NM_000215.3(JAK3):c.2143G>A (p.Val715Ile) SNV Likely pathogenic 376714 rs1057520020 19:17945717-17945717 19:17834908-17834908
28 IL7R NM_002185.5(IL7R):c.83-18A>G SNV Uncertain significance 36397 rs193922646 5:35860936-35860936 5:35860834-35860834
29 CD3E NM_000733.3(CD3E):c.567+65_567+66del Deletion Uncertain significance 35808 rs386134229 11:118185273-118185274 11:118314558-118314559
30 CD3E NM_000733.3(CD3E):c.70+4del Deletion Uncertain significance 35809 rs193922619 11:118178027-118178027 11:118307312-118307312
31 CD3E NM_000733.3(CD3E):c.*98_*101dup Duplication Uncertain significance 35810 rs193922618 11:118186354-118186355 11:118315639-118315640
32 CD3D NM_000732.4(CD3D):c.450+6C>T SNV Uncertain significance 35805 rs193922617 11:118210160-118210160 11:118339445-118339445
33 CD3E NM_000733.3(CD3E):c.498G>A (p.Ala166=) SNV Likely benign 35806 rs78373007 11:118184567-118184567 11:118313852-118313852
34 CD3E NM_000733.3(CD3E):c.507C>T (p.Gly169=) SNV Likely benign 35807 rs2231447 11:118184576-118184576 11:118313861-118313861
35 JAK3 NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) SNV Likely benign 36422 rs55778349 19:17953950-17953950 19:17843141-17843141
36 ZAP70 NM_001079.3(ZAP70):c.1155C>T (p.Arg385=) SNV Likely benign 36914 rs193922633 2:98351785-98351785 2:97735322-97735322
37 JAK3 NM_000215.3(JAK3):c.1890G>A (p.Gln630=) SNV Likely benign 36417 rs193922363 19:17946757-17946757 19:17835948-17835948
38 RAG1 NM_000448.2(RAG1):c.189A>G (p.Pro63=) SNV Likely benign 36711 rs34357808 11:36595043-36595043 11:36573493-36573493
39 JAK3 NM_000215.3(JAK3):c.2259C>T (p.Ala753=) SNV Benign 36418 rs35458530 19:17945471-17945471 19:17834662-17834662
40 JAK3 NM_000215.3(JAK3):c.2625C>T (p.Leu875=) SNV Benign 36419 rs2230589 19:17943383-17943383 19:17832574-17832574
41 JAK3 NM_000215.3(JAK3):c.308+16del Deletion Benign 36420 rs3212717 19:17954570-17954570 19:17843761-17843761
42 JAK3 NM_000215.3(JAK3):c.3096+18A>G SNV Benign 36421 rs2302603 19:17941294-17941294 19:17830485-17830485
43 RAG1 NM_000448.2(RAG1):c.906C>A (p.Asp302Glu) SNV Benign 36715 rs4151030 11:36595760-36595760 11:36574210-36574210
44 ADA NM_000022.4(ADA):c.390G>A (p.Val130=) SNV Benign 35653 rs61737144 20:43254298-43254298 20:44625657-44625657
45 DCLRE1C NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) SNV Benign 35999 rs35441642 10:14976727-14976727 10:14934728-14934728
46 DCLRE1C NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=) SNV Benign 36000 rs7076862 10:14976414-14976414 10:14934415-14934415
47 JAK3 NM_000215.3(JAK3):c.1291C>T (p.Arg431Trp) SNV not provided 440938 rs1274345651 19:17950436-17950436 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
Sources

Expression for Severe Combined Immunodeficiency

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

Pathways for Severe Combined Immunodeficiency

About this section

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

(show top 50) (show all 52)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.98 ZAP70 RAG2 RAG1 PTPRC PRKDC JAK3
2
ERK Signaling 63
Show member pathways
 13.73 ZAP70 RAC2 PRKDC MYH7 JAK3 IL9
3
Cytokine Signaling in Immune system 65
Show member pathways
 13.37 RAG2 RAG1 JAK3 IL9 IL7R IL7
4
PAK Pathway 63
Show member pathways
 13.29 RAC2 PTPRC MYH7 IL9 IL7R IL7
5
Akt Signaling 63
Show member pathways
 13.29 ZAP70 RAC2 PRKDC JAK3 IL9 IL7R
6
Phospholipase-C Pathway 63
Show member pathways
 13.06 ZAP70 RAC2 IL9 IL2 CD3E CD3D
7
TCR Signaling (Qiagen) 63
Show member pathways
 12.93 ZAP70 RAC2 PTPRC JAK3 CD3E CD3D
8
Allograft rejection 36 1
Show member pathways
 12.87 RAC2 MYH7 IL9 IL2 CD3E CD3D
9
Pathways in cancer 36
12.85 RAC2 JAK3 IL7R IL7 IL2RG IL2
10
Measles 36
Show member pathways
 12.81 JAK3 IL2RG IL2 CD3E CD3D
11
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 64
Show member pathways
 12.76 JAK3 IL9 IL7R IL7 IL2RG IL2
12
Immune response NFAT in immune response 23
Show member pathways
 12.63 ZAP70 PTPRC IL2 CD3E CD3D
13
T cell receptor signaling pathway 36
Show member pathways
 12.57 ZAP70 PTPRC IL9 IL2 CD3E CD3D
14
Th17 cell differentiation 36
Show member pathways
 12.55 ZAP70 JAK3 IL2RG IL2 CD3E CD3D
15
NF-kappaB Signaling 4
12.49 ZAP70 RAG1 PTPRC JAK3 IL2 DCLRE1C
16
DNA Damage 4
12.48 PRKDC NHEJ1 LIG4 DCLRE1C
17
B Cell Receptor Signaling Pathway (sino) 66
Show member pathways
 12.46 ZAP70 RAC2 PTPRC CD3E CD3D
18
JAK-STAT signaling pathway 36
Show member pathways
 12.39 JAK3 IL9 IL7R IL7 IL2RG IL2
19
DNA Double Strand Break Response 65
Show member pathways
 12.36 PRKDC NHEJ1 LIG4 DCLRE1C
20
TCR signaling (REACTOME) 65
Show member pathways
 12.34 ZAP70 PTPRC CD3E CD3D
21
Human T-cell leukemia virus 1 infection 36
12.32 JAK3 IL2RG IL2 CD3E CD3D
22
ICos-ICosL Pathway in T-Helper Cell 63
Show member pathways
 12.29 ZAP70 RAC2 PTPRC IL2RG IL2 CD3E
23
G beta-gamma signalling through PI3Kgamma 65
Show member pathways
 12.15 RAC2 JAK3 IL2RG IL2
24
Immune response Function of MEF2 in T lymphocytes 23
Show member pathways
 12.02 ZAP70 IL2 CD3E CD3D
25
IL12-mediated signaling events 1
Show member pathways
 12 IL2RG IL2 CD3E CD3D
26
Translocation of ZAP-70 to Immunological synapse 65
Show member pathways
 11.97 ZAP70 PTPRC CD3E CD3D
27
TCR signaling in naive CD4+ T cells 1
Show member pathways
 11.96 ZAP70 PTPRC CD3E CD3D
28
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.96 PTPRC IL7R IL7 IL2 CD3E
29
S-1P Stimulated Signaling 63
11.95 ZAP70 RAC2 CD3E CD3D
30
Hematopoietic cell lineage 36
11.9 IL7R IL7 CD3E CD3D
31
Th17 Differentiation Pathway 64
Show member pathways
 11.84 JAK3 IL2RG CD3E
32
Innate Lymphoid Cell Differentiation Pathways 64
11.76 PTPRC IL9 IL7R IL7 IL2
33
CXCR4-mediated signaling events 1
11.75 PTPRC CD3E CD3D
34
Signal transduction_Erk Interactions- Inhibition of Erk 23
11.74 ZAP70 CD3E CD3D
35
Dendritic Cells Developmental Lineage Pathway 64
11.73 PTPRC IL7R IL2 CD3E
36
CTLA4 Signaling 63
11.71 ZAP70 CD3E CD3D
37
G-protein signaling_RhoA regulation pathway 23
11.7 ZAP70 IL9 IL2 CD3E
38
IL2 signaling events mediated by PI3K 1
Show member pathways
 11.68 JAK3 IL2RG IL2
39
Downstream signaling in naive CD8+ T cells 1
Show member pathways
 11.61 IL2RG IL2 CD3E CD3D
40
Commom Cytokine Receptor G Chain Siganaling Pathway 66
11.56 PTPRC JAK3 IL9 IL7R IL7 IL2RG
41
G-protein signaling_Rap1A regulation pathway 23
11.55 ZAP70 CD3E CD3D
42
IL-15 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types 64
Show member pathways
 11.39 IL2RG IL2 CD3D
43
Th2 Differentiation Pathway 64
11.38 JAK3 IL9 IL2RG IL2 CD3E
44
Inflammatory Response Pathway 1
11.35 ZAP70 IL2RG IL2
45
IL-7 Signaling Pathway 1
Show member pathways
 11.3 JAK3 IL9 IL7R IL7 IL2RG
46
IL12 signaling mediated by STAT4 1
11.26 IL2 CD3E CD3D
47
Telomere Extension by Telomerase 63
Show member pathways
 11.2 JAK3 IL2RG IL2
48
OX40 Pathway 63
11.2 IL9 IL2 CD3E
49
DNA damage_NHEJ mechanisms of DSBs repair 23
11.15 PRKDC LIG4 DCLRE1C
50
Primary immunodeficiency 36
10.94 ZAP70 RAG2 RAG1 PTPRC JAK3 IL7R
Sources

GO Terms for Severe Combined Immunodeficiency

About this section

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 45)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 10.17 ZAP70 PRKDC JAK3 IL2 DCLRE1C CD3E
2 immune response GO:0006955 10.1 ZAP70 RAG1 IL9 IL7R IL7 IL2RG
3 positive regulation of cell proliferation GO:0008284 10.09 RAC2 IL9 IL7R IL7 IL2
4 adaptive immune response GO:0002250 10.05 ZAP70 RAG1 JAK3 IL2 DCLRE1C CD3E
5 cell surface receptor signaling pathway GO:0007166 10 PTPRC IL7R CD3E CD3D
6 cytokine-mediated signaling pathway GO:0019221 9.99 JAK3 IL7 IL2RG IL2
7 T cell receptor signaling pathway GO:0050852 9.96 ZAP70 PTPRC CD3E CD3D
8 double-strand break repair via nonhomologous end joining GO:0006303 9.91 PRKDC NHEJ1 LIG4 DCLRE1C
9 double-strand break repair GO:0006302 9.9 PRKDC NHEJ1 LIG4 DCLRE1C
10 positive regulation of T cell proliferation GO:0042102 9.89 PTPRC JAK3 IL2 CD3E
11 response to ionizing radiation GO:0010212 9.87 PRKDC NHEJ1 LIG4 DCLRE1C
12 T cell activation GO:0042110 9.85 ZAP70 PTPRC CD3E ADA
13 DNA recombination GO:0006310 9.85 RAG2 RAG1 PRKDC LIG4 DCLRE1C
14 response to gamma radiation GO:0010332 9.79 PTPRC PRKDC LIG4
15 positive regulation of calcium-mediated signaling GO:0050850 9.79 ZAP70 CD3E ADA
16 positive regulation of B cell proliferation GO:0030890 9.78 PTPRC IL7 IL2 ADA
17 negative thymic T cell selection GO:0045060 9.76 ZAP70 PTPRC CD3E
18 interleukin-2-mediated signaling pathway GO:0038110 9.75 JAK3 IL2RG IL2
19 B cell differentiation GO:0030183 9.73 RAG2 RAG1 PTPRC NHEJ1 JAK3 DCLRE1C
20 T cell differentiation in thymus GO:0033077 9.72 RAG2 RAG1 PRKDC LIG4 CD3E
21 positive regulation of alpha-beta T cell proliferation GO:0046641 9.71 ZAP70 PTPRC CD3E
22 interleukin-7-mediated signaling pathway GO:0038111 9.71 JAK3 IL7R IL7 IL2RG
23 interleukin-9-mediated signaling pathway GO:0038113 9.7 JAK3 IL9 IL2RG
24 regulation of T cell differentiation GO:0045580 9.69 RAG1 ADA
25 interleukin-15-mediated signaling pathway GO:0035723 9.68 JAK3 IL2RG
26 positive regulation of organ growth GO:0046622 9.68 RAG2 IL7
27 positive regulation of alpha-beta T cell differentiation GO:0046638 9.68 ZAP70 ADA
28 regulation of JAK-STAT cascade GO:0046425 9.68 PTPRC JAK3
29 positive regulation of T cell differentiation in thymus GO:0033089 9.67 IL7R ADA
30 negative regulation of T cell apoptotic process GO:0070233 9.67 RAG1 IL7R
31 positive regulation of isotype switching to IgG isotypes GO:0048304 9.67 PTPRC IL2
32 negative regulation of thymocyte apoptotic process GO:0070244 9.67 RAG1 JAK3 ADA
33 positive thymic T cell selection GO:0045059 9.67 ZAP70 PTPRC CD3E CD3D
34 interleukin-21-mediated signaling pathway GO:0038114 9.66 JAK3 IL2RG
35 negative regulation of T cell mediated cytotoxicity GO:0001915 9.66 PTPRC IL7R
36 T cell receptor V(D)J recombination GO:0033153 9.65 PRKDC LIG4
37 B cell lineage commitment GO:0002326 9.65 RAG2 PRKDC
38 interleukin-4-mediated signaling pathway GO:0035771 9.64 JAK3 IL2RG
39 immunoglobulin V(D)J recombination GO:0033152 9.64 PRKDC LIG4
40 pro-B cell differentiation GO:0002328 9.63 PRKDC LIG4
41 pre-B cell allelic exclusion GO:0002331 9.63 RAG2 RAG1
42 T cell differentiation GO:0030217 9.63 ZAP70 RAG2 PTPRC NHEJ1 IL7R IL2
43 T cell lineage commitment GO:0002360 9.61 RAG2 PRKDC IL7
44 V(D)J recombination GO:0033151 9.35 RAG2 RAG1 PRKDC LIG4 DCLRE1C
45 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 9.93 ZAP70 RAG2 RAG1 RAC2 PTPRC PRKDC
2 interleukin-7 receptor activity GO:0004917 8.62 IL7R IL2RG
Sources

Sources for Severe Combined Immunodeficiency

About this section
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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