SCID
MCID: SVR004
MIFTS: 66

Severe Combined Immunodeficiency (SCID)

Categories: Blood diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Severe Combined Immunodeficiency

MalaCards integrated aliases for Severe Combined Immunodeficiency:

Name: Severe Combined Immunodeficiency 11 19 58 75 53 14 36 71
Severe Combined Immunodeficiency Disease 28 5 33
Scid 11 19 58
Combined T and B Cell Inborn Immunodeficiency 11
Scid - [severe Combined Immunodeficiencies] 33
Immunodeficiency, Severe Combined 38

Characteristics:


Inheritance:

Autosomal recessive,X-linked recessive 58

Prevelance:

1-9/100000 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 11 DOID:627
MeSH 43 D016511
NCIt 49 C3472
SNOMED-CT 68 190994004
MESH via Orphanet 44 D016511
ICD10 via Orphanet 32 D81.0 D81.1 D81.2 more
UMLS via Orphanet 72 C0085110
Orphanet 58 ORPHA183660
ICD11 33 963193284
UMLS 71 C0085110

Summaries for Severe Combined Immunodeficiency

GARD: 19 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 genetic changes 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).

MalaCards based summary: Severe Combined Immunodeficiency, also known as severe combined immunodeficiency disease, is related to severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative and severe combined immunodeficiency, x-linked. An important gene associated with Severe Combined Immunodeficiency is ADA (Adenosine Deaminase), and among its related pathways/superpathways are Innate Immune System and TCR Signaling (Qiagen). The drugs Cyclophosphamide and Immunoglobulins, Intravenous have been mentioned in the context of this disorder. Affiliated tissues include Blood, and related phenotypes are endocrine/exocrine gland and cellular

Orphanet: 58 Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells.

Disease Ontology: 11 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: 75 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 996)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 34.1 RAG2 RAG1 JAK3 ADA
2 severe combined immunodeficiency, x-linked 34.0 JAK3 IL7R IL2RG ADA
3 severe combined immunodeficiency with sensitivity to ionizing radiation 34.0 RAG2 RAG1 LIG4 JAK3 IL2RG DCLRE1C
4 adenosine deaminase deficiency 33.9 RAG2 RAG1 PNP LOC107303343 JAK3 IL2RG
5 bare lymphocyte syndrome, type ii 33.8 RAG2 RAG1 PNP LIG4 JAK3 IL7R
6 reticular dysgenesis 33.7 RAG1 PNP JAK3 IL2RG DCLRE1C AK2
7 omenn syndrome 33.7 TTC7A RAG2 RAG1 PTPRC PNP PGM3
8 immunodeficiency 104 33.6 PTPRC IL7R
9 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 33.5 LOC107303343 ADA
10 immunodeficiency 19 33.5 CORO1A CD3G CD3D ADA
11 combined immunodeficiency 33.2 TTC7A RAG2 RAG1 RAC2 PTPRC PNP
12 immunodeficiency 18 33.2 CD3G CD3D
13 immune deficiency disease 33.0 RAG2 RAG1 RAC2 PTPRC PNP LIG4
14 purine nucleoside phosphorylase deficiency 32.7 RAG2 RAG1 PNP JAK3 IL2RG DOCK8
15 gastrointestinal defects and immunodeficiency syndrome 1 32.7 TTC7A IL2RG DOCK8
16 lig4 syndrome 32.7 RAG2 RAG1 LIG4 DCLRE1C
17 immunodeficiency 17 32.6 CD3G CD3D
18 cd3zeta deficiency 32.5 RAG1 CD3G CD3D
19 janus kinase-3 deficiency 32.5 RAG2 PGM3 LIG4 JAK3
20 ataxia-telangiectasia 32.5 RAG2 RAG1 LIG4 DCLRE1C
21 coronin-1a deficiency 32.4 DOCK8 CORO1A CD3D AK2
22 recombinase activating gene 1 deficiency 32.4 RAG2 RAG1
23 lymphopenia 32.2 RAG1 RAC2 IL7R IL2RG CORO1A CD3G
24 combined cellular and humoral immune defects with granulomas 32.1 RAG2 RAG1
25 t cell deficiency 31.6 RAG2 RAG1 PTPRC PNP IL7R IL2RG
26 leukemia, acute lymphoblastic 31.5 RAG1 PTPRC JAK3 IL7R ADA
27 t-cell acute lymphoblastic leukemia 31.4 RAG2 RAG1 PTPRC PNP ADA
28 common variable immunodeficiency 30.9 TTC7A RAG2 RAG1 RAC2 PNP JAK3
29 chronic granulomatous disease 30.9 TTC7A RAG1 RAC2 JAK3 IL2RG DOCK8
30 b cell deficiency 30.8 RAG2 RAG1 PGM3 DOCK8
31 immunodeficiency with hyper-igm, type 1 30.8 RAG2 RAG1 DOCK8
32 epidermodysplasia verruciformis 1 30.7 DOCK8 DCLRE1C CORO1A
33 human immunodeficiency virus infectious disease 30.6 PTPRC IL7R IL2RG ADA
34 granulomatous disease, chronic, x-linked 30.6 IL2RG DOCK8 ADA
35 cd40 ligand deficiency 30.5 IL2RG DOCK8 DCLRE1C
36 primary cutaneous t-cell non-hodgkin lymphoma 30.5 PNP IL7R ADA
37 hepatic venoocclusive disease with immunodeficiency 30.5 TTC7A PGM3 DOCK8
38 short-limb skeletal dysplasia with severe combined immunodeficiency 11.9
39 immunodeficiency 22 11.8
40 immunodeficiency 52 11.7
41 immunodeficiency 11 11.7
42 zap70-related severe combined immunodeficiency 11.7
43 immunodeficiency 26 11.7
44 t-b- severe combined immunodeficiency 11.7
45 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 11.7
46 immunodeficiency 8 11.7
47 immunodeficiency 24 11.7
48 severe combined immunodeficiency due to ikk2 deficiency 11.6
49 immunodeficiency 49 11.6
50 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 11.6

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



Diseases related to Severe Combined Immunodeficiency

Symptoms & Phenotypes for Severe Combined Immunodeficiency

MGI Mouse Phenotypes related to Severe Combined Immunodeficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.25 ADA CD3G CORO1A DCLRE1C IL2RG IL7R
2 cellular MP:0005384 10.22 ADA AK2 CD3G CORO1A DCLRE1C DOCK8
3 immune system MP:0005387 10.11 ADA CD3D CD3G CORO1A DCLRE1C DOCK8
4 digestive/alimentary MP:0005381 10.02 ADA IL2RG JAK3 LIG4 PGM3 PTPRC
5 neoplasm MP:0002006 9.98 IL2RG IL7R LIG4 PTPRC RAG1 RAG2
6 cardiovascular system MP:0005385 9.96 ADA AK2 DCLRE1C JAK3 MTHFD1 PTPRC
7 hematopoietic system MP:0005397 9.91 ADA CD3D CD3G CORO1A DCLRE1C DOCK8
8 mortality/aging MP:0010768 9.44 ADA AK2 IL2RG JAK3 LIG4 MTHFD1

Drugs & Therapeutics for Severe Combined Immunodeficiency

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

(show top 50) (show all 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
2 Immunoglobulins, Intravenous Phase 3
3 Immunoglobulin G Phase 3
4 gamma-Globulins Phase 3
5 Rho(D) Immune Globulin Phase 3
6
Mycophenolic acid Approved, Investigational Phase 2 24280-93-1 446541
7
Levoleucovorin Approved, Experimental, Investigational Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
8
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 4112 126941
9
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643
10
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
11
Melphalan Approved Phase 2 148-82-3 4053 460612
12
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
13
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
14
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
15
Alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
16
Lenograstim Approved, Investigational Phase 2 135968-09-1
17
Fludarabine Approved Phase 1, Phase 2 75607-67-9, 21679-14-1 30751 657237
18
Plerixafor Approved Phase 2 110078-46-1 65015
19
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
20
D-Phenylalanine Approved, Experimental, Investigational, Nutraceutical Phase 2 63-91-2, 673-06-3 6140 71567
21 Calcineurin Inhibitors Phase 2
22 Antitubercular Agents Phase 2
23 Antirheumatic Agents Phase 2
24 Dermatologic Agents Phase 2
25 Antimetabolites Phase 2
26 Folic Acid Antagonists Phase 2
27 Folate Phase 2
28 Vitamin B9 Phase 2
29 Vitamin B Complex Phase 2
30 Antilymphocyte Serum Phase 1, Phase 2
31 Thymoglobulin Phase 1, Phase 2
32 Alkylating Agents Phase 1, Phase 2
33 Antineoplastic Agents, Alkylating Phase 1, Phase 2
34 Immunoglobulins Phase 1, Phase 2
35 Antibodies, Monoclonal Phase 1, Phase 2
36 Antibodies Phase 1, Phase 2
37 Insulin, Globin Zinc Phase 1, Phase 2
38
Insulin Phase 1, Phase 2
39 Hormones Phase 1, Phase 2
40 Mitogens Phase 1, Phase 2
41 Antineoplastic Agents, Immunological Phase 1, Phase 2
42 Antiviral Agents Phase 2
43 Anti-Retroviral Agents Phase 2
44 Anti-HIV Agents Phase 2
45 Adjuvants, Immunologic Phase 2
46
Zidovudine Approved Phase 1 30516-87-1 35370
47 Reverse Transcriptase Inhibitors Phase 1
48
Elapegademase Approved 1709806-75-6
49
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
50
Tannic acid Approved 1401-55-4 16129878 16129778

Interventional clinical trials:

(show top 50) (show all 76)
# Name Status NCT ID Phase Drugs
1 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
2 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
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 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) Withdrawn NCT04140539 Phase 2, Phase 3
5 Lentiviral Gene Transfer for Treatment of Children Older Than 2 Years of Age With X-Linked Severe Combined Immunodeficiency Unknown status NCT03315078 Phase 1, Phase 2 Palifermin;Busulfan
6 Gene Transfer for X-linked Severe Combined Immunodeficiency (SCID-X1) Using a Self-inactivating Lentiviral Vector (TYF-IL-2Rg) Unknown status NCT03217617 Phase 1, Phase 2
7 Efficacy and Safety of Cryopreserved Formulation of Autologous CD34+ Hematopoietic Stem Cells Transduced Ex Vivo With Elongation Factor 1 Alpha Shortened (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
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 Treatment of ADA-SCID by Gene Therapy on Somatic Cells Completed NCT00599781 Phase 1, Phase 2
10 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
11 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
12 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
13 Phase I Gene Therapy Protocol for Adenosine Deaminase Deficiency Completed NCT01279720 Phase 1, Phase 2
14 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
15 Protocol No. 2 of Gene Therapy for X-linked Severe Combined Immunodeficiency (SCID-X1) Using a Self Retroviral Vector - SCID2 Completed NCT01410019 Phase 1, Phase 2
16 Autologous Transplantation of Bone Marrow CD34+ Stem/Progenitor Cells After Addition of a Normal Human ADA Complementary DNA (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
17 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID Completed NCT00598481 Phase 2 Busulfan;PEG-ADA
18 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 Human T Lymphoid Progenitor (HTLP) injection
19 Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning Recruiting NCT03311503 Phase 1, Phase 2
20 A Phase 1/2 Study to Evaluate the Safety, Tolerability, and Efficacy of JSP191 for Hematopoietic Cell Transplantation Conditioning to Achieve Engraftment and Immune Reconstitution in Subjects With SCID Recruiting NCT02963064 Phase 1, Phase 2
21 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
22 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
23 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
24 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
25 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
26 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 Active, not recruiting NCT03765632 Phase 1, Phase 2 Busulfan;Peg-Ada
27 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 Active, not recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
28 Multi-site Phase I/II Trial Evaluating the Treatment of SCID-X1 Patients With Retrovirus-mediated Gene Transfer Active, not recruiting NCT01129544 Phase 1, Phase 2
29 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
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 Efficacy and Safety of Cryopreserved Autologous Mobilized Peripheral Blood CD34+ Hematopoietic Stem and Progenitor Cells Transduced Ex Vivo With the EFS-ADA Lentiviral Vector in Patients With Severe Combined Immune Deficiency Due To Adenosine Deaminase Deficiency Not yet recruiting NCT05432310 Phase 1, Phase 2
32 A Phase 1/2 Open Label Non Randomized Study, Multicentric, Single Arm Evaluating the Safety and Efficacy of Gene Therapy of the Severe Combined Immunodeficiency (SCID) Caused by Mutations in the Human DCLRE1C Gene (Artemis) by Transplantation of a Single Dose of Autologous CD34+ Cells Transduced ex Vivo With the G2ARTE Lentiviral Vector Expressing the DCLRE1C cDNA Not yet recruiting NCT05071222 Phase 1, Phase 2
33 Lentiviral Gene Transfer for Treatment of Children Older Than 2 Years of Age With X-Linked Severe Combined Immunodeficiency Suspended NCT01306019 Phase 1, Phase 2 Palifermin;Busulfan
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 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
37 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
38 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
39 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
40 Transplantation of Highly Purified Haploidentical CD133 Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome Completed NCT00152100 Phase 1 Filgrastim, Alemtuzumab
41 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
42 Ex Vivo Retroviral Gene Transfer For Treatment of X-Linked Severe Combined Immunodeficiency (XSCID) Completed NCT00028236 Phase 1 Gene-Transduced Autologous CD34+ Stem Cells
43 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
44 Neurotrophic Effects of Immunophilin Ligands on Human Hair Follicles Grafted Onto Service Combined Immunodeficient (SCID) Mice Completed NCT00177099 Phase 1 FK506, GP11046, GP11511
45 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
46 Safety and Early Efficacy Study of TBX-1400 in Patients With Severe Combined Immunodeficiency Not yet recruiting NCT02860559 Phase 1
47 Gene Transfer for Adenosine Deaminase-severe Combined Immunodeficiency (ADA-SCID) Using an Improved Self-inactivating Lentiviral Vector (TYF-ADA) Unknown status NCT03645460
48 Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China Unknown status NCT02231983
49 Gene Therapy for SCID-X1 Using a Self-inactivating (SIN) Gammaretroviral Vector Unknown status NCT01175239
50 Newborn Screening for SCID in a High-Risk Population Completed NCT00845416

Search NIH Clinical Center for Severe Combined Immunodeficiency

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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 28

Anatomical Context for Severe Combined Immunodeficiency

Organs/tissues related to Severe Combined Immunodeficiency:

MalaCards : T Cells, B Cells, Bone Marrow, Nk Cells, Bone, Myeloid, Prostate
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 22049)
# Title Authors PMID Year
1
Gene therapy for immunodeficiency due to adenosine deaminase deficiency. 53 62 5
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. 53 62 5
15661025 2005
3
Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation. 53 62 5
14615376 2004
4
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. 53 62 5
11133745 2001
5
Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism. 53 62 5
10982185 2000
6
Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment. 53 62 5
9753072 1998
7
An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity. 53 62 5
9361033 1997
8
Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site. 53 62 5
7599635 1995
9
Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. 53 62 5
1384322 1992
10
Mutational landscape of severe combined immunodeficiency patients from Turkey. 62 5
32445296 2020
11
Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency. 62 5
32414565 2020
12
A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency. 62 5
32245326 2020
13
Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India. 62 5
33628209 2020
14
Establishing Simultaneous T Cell Receptor Excision Circles (TREC) and K-Deleting Recombination Excision Circles (KREC) Quantification Assays and Laboratory Reference Intervals in Healthy Individuals of Different Age Groups in Hong Kong. 62 5
32765500 2020
15
Allogeneic hematopoietic stem cell transplantation in two brothers with DNA ligase IV deficiency: a case report and review of the literature. 62 5
31604460 2019
16
Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype. 62 5
29772310 2019
17
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India. 62 5
30778343 2019
18
ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome. 62 5
29744787 2018
19
Recent advances in understanding the pathogenesis and management of reticular dysgenesis. 62 5
29270983 2018
20
Unconditioned unrelated donor bone marrow transplantation for IL7Rα- and Artemis-deficient SCID. 62 5
28436970 2017
21
Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome. 62 5
28331055 2017
22
Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. 62 5
27707659 2016
23
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. 62 5
27484032 2016
24
Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome. 62 5
26476733 2016
25
Human RAG mutations: biochemistry and clinical implications. 62 5
26996199 2016
26
Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities. 62 5
26255240 2015
27
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. 62 5
26457731 2015
28
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. 62 5
25633902 2015
29
Evaluation of Severe Combined Immunodeficiency and Combined Immunodeficiency Pediatric Patients on the Basis of Cellular Radiosensitivity. 62 5
26151233 2015
30
Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt. 62 5
25869295 2015
31
Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. 62 5
25046553 2014
32
Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiency. 62 5
25109802 2014
33
Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias. 62 5
24759676 2014
34
Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: a single-center experience. 62 5
24481607 2014
35
Late-onset combined immune deficiency associated to skin granuloma due to heterozygous compound mutations in RAG1 gene in a 14 years old male. 62 5
23085344 2013
36
Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency. 62 5
22409989 2012
37
Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. 62 5
21664875 2011
38
Hematopoietic stem cell gene therapy for adenosine deaminase-deficient severe combined immunodeficiency leads to long-term immunological recovery and metabolic correction. 62 5
21865538 2011
39
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. 62 5
21184155 2011
40
Highly variable clinical phenotypes of hypomorphic RAG1 mutations. 62 5
20956421 2010
41
Why newborn screening for severe combined immunodeficiency is essential: a case report. 62 5
20603253 2010
42
Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. 62 5
19043417 2009
43
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. 62 5
19043416 2009
44
Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray. 62 5
18641513 2008
45
Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations. 62 5
17890453 2008
46
IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD. 62 5
17827065 2007
47
GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. 62 5
17572155 2007
48
A novel mutation of intron 22 in Janus kinase 3-deficient severe combined immunodeficiency. 62 5
17433830 2007
49
Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan. 62 5
17075247 2006
50
A severe form of human combined immunodeficiency due to mutations in DNA ligase IV. 62 5
16585603 2006

Variations for Severe Combined Immunodeficiency

ClinVar genetic disease variations for Severe Combined Immunodeficiency:

5 (show top 50) (show all 119)
# 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 AK2 NM_001625.4(AK2):c.498+1G>A SNV Pathogenic
18255 rs777503956 GRCh37: 1:33480122-33480122
GRCh38: 1:33014521-33014521
3 RAG1 NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln) SNV Pathogenic
68693 rs150739647 GRCh37: 11:36597778-36597778
GRCh38: 11:36576228-36576228
4 ADA NM_000022.4(ADA):c.466C>T (p.Arg156Cys) SNV Pathogenic
1970 rs121908735 GRCh37: 20:43254222-43254222
GRCh38: 20:44625581-44625581
5 ADA NM_000022.4(ADA):c.845G>A (p.Arg282Gln) SNV Pathogenic
402341 rs751635016 GRCh37: 20:43251229-43251229
GRCh38: 20:44622588-44622588
6 MTHFD1 NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe) SNV Pathogenic
446306 rs370444838 GRCh37: 14:64877827-64877827
GRCh38: 14:64411109-64411109
7 DOCK8 and overlap with 1 gene(s) NC_000009.11:g.(?_214864)_(399260_404917)del DEL Pathogenic
1339698 GRCh37: 9:214864-404917
GRCh38:
8 IL7R NM_002185.5(IL7R):c.361dup (p.Ile121fs) DUP Pathogenic
224841 rs869312857 GRCh37: 5:35867540-35867541
GRCh38: 5:35867438-35867439
9 LIG4 NM_206937.2(LIG4):c.845A>T (p.His282Leu) SNV Pathogenic
845678 rs777008519 GRCh37: 13:108862772-108862772
GRCh38: 13:108210424-108210424
10 RAG1 NM_000448.3(RAG1):c.256_257del (p.Lys86fs) DEL Pathogenic
285045 rs772962160 GRCh37: 11:36595110-36595111
GRCh38: 11:36573560-36573561
11 RAG1 NM_000448.3(RAG1):c.1331C>T (p.Ala444Val) SNV Pathogenic
68681 rs199474685 GRCh37: 11:36596185-36596185
GRCh38: 11:36574635-36574635
12 PNP NM_000270.4(PNP):c.701G>C (p.Arg234Pro) SNV Pathogenic
13991 rs104894451 GRCh37: 14:20944591-20944591
GRCh38: 14:20476432-20476432
13 DOCK8 and overlap with 1 gene(s) NC_000009.11:g.(?_214864)_(271730_286460)del DEL Pathogenic
1722489 GRCh37: 9:214864-286460
GRCh38:
14 IL7R NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr) SNV Pathogenic
36392 rs193922641 GRCh37: 5:35867539-35867539
GRCh38: 5:35867437-35867437
15 ADA NM_000022.4(ADA):c.320T>C (p.Leu107Pro) SNV Pathogenic
1965 rs121908739 GRCh37: 20:43255139-43255139
GRCh38: 20:44626498-44626498
16 ADA NM_000022.4(ADA):c.467G>A (p.Arg156His) SNV Pathogenic
1984 rs121908722 GRCh37: 20:43254221-43254221
GRCh38: 20:44625580-44625580
17 ADA NM_000022.4(ADA):c.478+1G>A SNV Pathogenic
265025 rs761242509 GRCh37: 20:43254209-43254209
GRCh38: 20:44625568-44625568
18 RAG1 NM_000448.3(RAG1):c.1421G>A (p.Arg474His) SNV Pathogenic
68684 rs199474686 GRCh37: 11:36596275-36596275
GRCh38: 11:36574725-36574725
19 RAG1 NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter) SNV Pathogenic
488725 rs757797994 GRCh37: 11:36597543-36597543
GRCh38: 11:36575993-36575993
20 ADA NM_000022.4(ADA):c.424C>T (p.Arg142Ter) SNV Pathogenic
552928 rs780014431 GRCh37: 20:43254264-43254264
GRCh38: 20:44625623-44625623
21 LOC107303343, ADA NM_000022.4(ADA):c.95+1G>A SNV Pathogenic
555196 rs778343059 GRCh37: 20:43264867-43264867
GRCh38: 20:44636226-44636226
22 ADA NM_000022.4(ADA):c.975+1G>A SNV Pathogenic
984454 rs2065325898 GRCh37: 20:43249658-43249658
GRCh38: 20:44621017-44621017
23 MCFD2, TTC7A NM_020458.4(TTC7A):c.138dup (p.Asn47Ter) DUP Likely Pathogenic
996288 rs1670398017 GRCh37: 2:47168817-47168818
GRCh38: 2:46941678-46941679
24 AK2 NM_001625.4(AK2):c.330+1G>C SNV Likely Pathogenic
1027623 rs1639559794 GRCh37: 1:33487193-33487193
GRCh38: 1:33021592-33021592
25 DOCK8 NM_203447.4(DOCK8):c.54-1G>T SNV Likely Pathogenic
265359 rs192864327 GRCh37: 9:271626-271626
GRCh38: 9:271626-271626
26 MTHFD1, ZBTB25 NM_005956.4(MTHFD1):c.2529del (p.Glu844fs) DEL Likely Pathogenic
1696279 GRCh37: 14:64920541-64920541
GRCh38: 14:64453823-64453823
27 IL7R NM_002185.5(IL7R):c.437_438del (p.Phe146fs) DEL Likely Pathogenic
565662 rs1561423197 GRCh37: 5:35871214-35871215
GRCh38: 5:35871112-35871113
28 RAG2 NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) SNV Likely Pathogenic
13138 rs121918575 GRCh37: 11:36614367-36614367
GRCh38: 11:36592817-36592817
29 RAG2 NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) SNV Likely Pathogenic
36719 rs193922574 GRCh37: 11:36615502-36615502
GRCh38: 11:36593952-36593952
30 ADA NM_000022.4(ADA):c.454C>A (p.Leu152Met) SNV Likely Pathogenic
1979 rs121908728 GRCh37: 20:43254234-43254234
GRCh38: 20:44625593-44625593
31 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) SNV Likely Pathogenic
42901 rs3218716 GRCh37: 14:23894525-23894525
GRCh38: 14:23425316-23425316
32 STK4 NM_006282.5(STK4):c.831+2T>C SNV Likely Pathogenic
1722416 GRCh37: 20:43625949-43625949
GRCh38: 20:44997308-44997308
33 ADA NM_000022.4(ADA):c.631C>T (p.Arg211Cys) SNV Likely Pathogenic
1966 rs121908740 GRCh37: 20:43251695-43251695
GRCh38: 20:44623054-44623054
34 RAG2 NM_000536.4(RAG2):c.328A>C (p.Met110Leu) SNV Likely Pathogenic
36720 rs193922575 GRCh37: 11:36615391-36615391
GRCh38: 11:36593841-36593841
35 ADA NM_000022.4(ADA):c.396dup (p.Val133fs) DUP Likely Pathogenic
550821 rs1555844617 GRCh37: 20:43254291-43254292
GRCh38: 20:44625650-44625651
36 DCLRE1C NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn) SNV Likely Pathogenic
986350 rs1839765652 GRCh37: 10:14977520-14977520
GRCh38: 10:14935521-14935521
37 AK2 NM_001625.4(AK2):c.556C>T (p.Arg186Cys) SNV Likely Pathogenic
18258 rs267606645 GRCh37: 1:33478946-33478946
GRCh38: 1:33013345-33013345
38 CD3G NM_000073.3(CD3G):c.484-1G>A SNV Likely Pathogenic
1705260 GRCh37: 11:118223118-118223118
GRCh38: 11:118352403-118352403
39 CD3G NM_000073.3(CD3G):c.213del (p.Lys71fs) DEL Likely Pathogenic
541654 rs570768621 GRCh37: 11:118220583-118220583
GRCh38: 11:118349868-118349868
40 DOCK8 and overlap with 1 gene(s) NC_000009.11:g.(?_214864)_(215030_271626)del DEL Likely Pathogenic
1704632 GRCh37: 9:214864-271626
GRCh38:
41 MYOC NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) SNV Likely Pathogenic
7949 rs74315329 GRCh37: 1:171605478-171605478
GRCh38: 1:171636338-171636338
42 RAC2 NM_002872.5(RAC2):c.184G>A (p.Glu62Lys) SNV Likely Pathogenic
464885 rs1555908409 GRCh37: 22:37628882-37628882
GRCh38: 22:37232842-37232842
43 PTPRC NM_002838.5(PTPRC):c.100+1del DEL Likely Pathogenic
1677216 GRCh37: 1:198661502-198661502
GRCh38: 1:198692373-198692373
44 ADA NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) DEL Likely Pathogenic
505549 rs886041796 GRCh37: 20:43252917-43252917
GRCh38: 20:44624276-44624276
45 IL7R NM_002185.5(IL7R):c.539A>C (p.His180Pro) SNV Likely Pathogenic
36393 rs193922642 GRCh37: 5:35873583-35873583
GRCh38: 5:35873481-35873481
46 JAK3 NM_000215.4(JAK3):c.1767C>T (p.Gly589=) SNV Likely Pathogenic
36416 rs193922362 GRCh37: 19:17947957-17947957
GRCh38: 19:17837148-17837148
47 RAG1 NM_000448.3(RAG1):c.2603C>T (p.Ala868Val) SNV Likely Pathogenic
36712 rs193922462 GRCh37: 11:36597457-36597457
GRCh38: 11:36575907-36575907
48 RAG1 NM_000448.3(RAG1):c.322C>T (p.Arg108Ter) SNV Likely Pathogenic
36714 rs193922464 GRCh37: 11:36595176-36595176
GRCh38: 11:36573626-36573626
49 RAG2 NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) SNV Likely Pathogenic
36716 rs148508754 GRCh37: 11:36615615-36615615
GRCh38: 11:36594065-36594065
50 JAK3 NM_000215.4(JAK3):c.2683_2704del (p.Arg895fs) DEL Likely Pathogenic
495737 rs1555743321 GRCh37: 19:17942584-17942605
GRCh38: 19:17831775-17831796

Copy number variations for Severe Combined Immunodeficiency from CNVD:

6
# 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 directly related to Severe Combined Immunodeficiency:

# Pathway Source
1 IKBKB deficiency causes SCID Reactome 66

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 RAG2 RAG1 RAC2 PTPRC PNP JAK3
2
Show member pathways
12.69 RAC2 PTPRC JAK3 CD3G CD3D
3 12.35 RAG1 PTPRC JAK3 DCLRE1C
4
Show member pathways
11.94 RAC2 PTPRC CD3G CD3D
5
Show member pathways
11.75 IL2RG CD3G CD3D
6
Show member pathways
11.69 JAK3 IL2RG CD3G CD3D
7
Show member pathways
11.63 RAC2 PTPRC IL2RG CD3G CD3D
8 11.54 PNP AK2 ADA
9
Show member pathways
11.48 PTPRC CD3G CD3D
10 11.33 PTPRC CD3G CD3D
11 11.19 PTPRC CD3G CD3D
12 10.95 LIG4 DCLRE1C
13 10.92 CD3G CD3D
14 10.59 DCLRE1C LIG4
15 10.58 RAG2 RAG1 JAK3 IL7R IL2RG
16
Show member pathways
10.57 ADA PNP
17
Show member pathways
10.27 IL7R 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 clathrin-coated endocytic vesicle membrane GO:0030669 9.8 IL7R CD3G CD3D
2 external side of plasma membrane GO:0009897 9.73 PTPRC IL7R IL2RG CD3G CD3D ADA
3 alpha-beta T cell receptor complex GO:0042105 9.56 CD3G CD3D
4 nonhomologous end joining complex GO:0070419 9.46 LIG4 DCLRE1C
5 DNA recombinase complex GO:0097519 8.92 RAG2 RAG1

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 T cell receptor signaling pathway GO:0050852 10.18 PTPRC CD3G CD3D ADA
2 B cell proliferation GO:0042100 10.09 PTPRC IL7R ADA
3 positive regulation of T cell proliferation GO:0042102 10.05 CORO1A JAK3 PNP PTPRC
4 T cell activation GO:0042110 10.04 PTPRC CORO1A CD3G ADA
5 DNA recombination GO:0006310 9.95 RAG2 RAG1 LIG4 DCLRE1C
6 positive regulation of T cell differentiation in thymus GO:0033089 9.95 ADA IL2RG IL7R
7 regulation of receptor signaling pathway via JAK-STAT GO:0046425 9.94 PTPRC JAK3
8 positive regulation of alpha-beta T cell differentiation GO:0046638 9.93 PNP ADA
9 allantoin metabolic process GO:0000255 9.93 PNP ADA
10 positive thymic T cell selection GO:0045059 9.93 CD3D CD3G PTPRC
11 negative regulation of T cell mediated cytotoxicity GO:0001915 9.92 PTPRC IL7R
12 alpha-beta T cell activation GO:0046631 9.92 CD3G CD3D
13 T cell homeostasis GO:0043029 9.92 CORO1A IL7R JAK3 RAG1
14 interleukin-2-mediated signaling pathway GO:0038110 9.91 JAK3 IL2RG
15 positive regulation of T cell differentiation GO:0045582 9.9 RAG1 PTPRC ADA
16 B cell differentiation GO:0030183 9.9 DCLRE1C IL2RG JAK3 PTPRC RAG1 RAG2
17 interleukin-4-mediated signaling pathway GO:0035771 9.89 IL2RG JAK3
18 dAMP catabolic process GO:0046059 9.88 ADA PNP
19 deoxyadenosine catabolic process GO:0006157 9.87 PNP ADA
20 pre-B cell allelic exclusion GO:0002331 9.86 RAG2 RAG1
21 negative regulation of thymocyte apoptotic process GO:0070244 9.85 RAG1 JAK3 ADA
22 purine-containing compound salvage GO:0043101 9.84 PNP ADA
23 interleukin-7-mediated signaling pathway GO:0038111 9.83 IL7R IL2RG
24 negative regulation of T cell apoptotic process GO:0070233 9.83 DOCK8 IL7R RAG1
25 immunological synapse formation GO:0001771 9.81 DOCK8 CORO1A
26 T cell differentiation GO:0030217 9.8 RAG2 PTPRC IL7R ADA
27 DN2 thymocyte differentiation GO:1904155 9.73 RAG2 PTPRC LIG4
28 V(D)J recombination GO:0033151 9.56 RAG2 RAG1 LIG4 DCLRE1C
29 T cell differentiation in thymus GO:0033077 9.4 RAG2 RAG1 LIG4 IL7R IL2RG ADA

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

# Name GO ID Score Top Affiliating Genes
1 interleukin-7 receptor activity GO:0004917 8.92 IL7R IL2RG

Sources for Severe Combined Immunodeficiency

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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