SCID
MCID: SVR004
MIFTS: 70

Severe Combined Immunodeficiency (SCID)

Categories: Immune diseases, Rare diseases

Aliases & Classifications for Severe Combined Immunodeficiency

Summaries for Severe Combined Immunodeficiency

NIH Rare Diseases : 54 Severe combined immunodeficiencies (SCID) are inheritedimmune 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 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, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive. An important gene associated with Severe Combined Immunodeficiency is JAK3 (Janus Kinase 3), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Adenosine and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include Blood and 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 several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems.

Wikipedia : 77 Severe combined immunodeficiency, SCID, also known as alymphocytosis, Glanzmann–Riniker syndrome, severe... 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 427)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 35.1 JAK3 RAG1 RAG2
2 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 35.0 CD3D IL7R PTPRC
3 severe combined immunodeficiency, x-linked 34.9 ADA IL2 IL2RG IL7 IL7R IL9
4 severe combined immunodeficiency with sensitivity to ionizing radiation 34.9 DCLRE1C LIG4 NHEJ1 PRKDC RAG1
5 jak3-deficient severe combined immunodeficiency 34.6 IL2 IL9 JAK3
6 t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta 34.3 CD3D CD3E
7 omenn syndrome 33.7 ADA DCLRE1C IL2RG IL7R LIG4 RAG1
8 immunodeficiency 18 33.6 CD3D CD3E PTPRC
9 immunodeficiency 19 33.6 CD3D JAK3 ZAP70
10 lig4 syndrome 32.6 DCLRE1C LIG4 NHEJ1 PRKDC RAG1 RAG2
11 janus kinase-3 deficiency 32.4 JAK3 LIG4
12 recombinase activating gene 1 deficiency 32.2 RAG1 RAG2
13 interleukin-7 receptor alpha deficiency 32.1 IL2RG IL7 IL7R JAK3
14 combined t cell and b cell immunodeficiency 31.9 ADA AK2 DCLRE1C IL2 IL2RG IL7
15 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 31.3 IL2 IL7R RAG1 RAG2
16 combined cellular and humoral immune defects with granulomas 31.1 RAG1 RAG2
17 lymphopenia 30.9 IL2 IL2RG IL7 IL7R RAG1
18 t cell deficiency 30.2 IL2 IL7R PTPRC ZAP70
19 anaplastic large cell lymphoma 30.1 IL9 JAK3 PTPRC
20 immune deficiency disease 30.0 IL2 IL2RG JAK3 RAG1 RAG2
21 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 12.7
22 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 12.7
23 achondroplasia and severe combined immunodeficiency 12.6
24 zap70-related severe combined immunodeficiency 12.6
25 short-limb skeletal dysplasia with severe combined immunodeficiency 12.5
26 severe combined immunodeficiency due to ikk2 deficiency 12.4
27 severe combined immunodeficiency, atypical 12.3
28 reticular dysgenesis 12.3
29 adenosine deaminase deficiency 12.3
30 bare lymphocyte syndrome, type ii 12.2
31 immunodeficiency 26 with or without neurologic abnormalities 11.9
32 immunodeficiency 49 11.8
33 immunodeficiency 52 11.8
34 immunodeficiency 8 11.7
35 immunodeficiency 22 11.7
36 immunodeficiency 11 11.6
37 immunodeficiency 24 11.6
38 immunodeficiency 17 11.6
39 zap-70 deficiency 11.6
40 immunodeficiency 9 11.2
41 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 11.1
42 bare lymphocyte syndrome, type i 11.1
43 gastrointestinal defects and immunodeficiency syndrome 11.0
44 purine nucleoside phosphorylase deficiency 11.0
45 immunoskeletal dysplasia with neurodevelopmental abnormalities 11.0
46 cd3zeta deficiency 11.0
47 recombinase activating gene 2 deficiency 11.0
48 cd45 deficiency 11.0
49 coronin-1a deficiency 11.0
50 folate malabsorption, hereditary 10.9

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:

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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.26 ADA AK2 CD3D CD3E DCLRE1C IL2
2 Reduced mammosphere formation GR00396-S 9.17 CD3D DCLRE1C IL9 JAK3 PRKDC PTPRC
3 Increased viability with tamoxifen GR00120-A 9.16 CD3E PRKDC

MGI Mouse Phenotypes related to Severe Combined Immunodeficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.36 ADA CD3D CD3E DCLRE1C IL2 IL2RG
2 cellular MP:0005384 10.35 ADA CD3E DCLRE1C IL2 IL2RG IL7R
3 immune system MP:0005387 10.32 ADA CD3D CD3E DCLRE1C IL2 IL2RG
4 endocrine/exocrine gland MP:0005379 10.31 ADA CD3E DCLRE1C IL2 IL2RG IL7
5 digestive/alimentary MP:0005381 10.16 ADA IL2 IL2RG IL9 JAK3 LIG4
6 mortality/aging MP:0010768 10.03 ADA CD3E IL2 IL2RG JAK3 LIG4
7 liver/biliary system MP:0005370 9.87 ADA IL2 LIG4 PRKDC PTPRC RAG1
8 neoplasm MP:0002006 9.85 CD3E IL2 IL2RG IL7R LIG4 NHEJ1
9 normal MP:0002873 9.56 ADA IL2RG IL7R IL9 PTPRC RAG1
10 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 93)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-61-7 60961
2
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
3
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Not Applicable 6055-19-2, 50-18-0 2907
4
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 216503-57-0
5
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 55-98-1 2478
6
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 24356-66-9 21704 32326
7 Anti-Infective Agents Phase 2, Phase 3,Phase 1,Not Applicable
8 Antimetabolites Phase 2, Phase 3,Phase 1,Not Applicable
9 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable
10 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 1,Not Applicable
11 Antiviral Agents Phase 2, Phase 3,Phase 1,Not Applicable
12 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 1,Not Applicable
13 Immunologic Factors Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
14 Alkylating Agents Phase 2, Phase 3,Phase 1,Not Applicable
15 Antirheumatic Agents Phase 2, Phase 3,Phase 1,Not Applicable
16 Antibodies Phase 3,Phase 1,Phase 2
17 Rho(D) Immune Globulin Phase 3
18 Immunoglobulins Phase 3,Phase 1,Phase 2
19 Immunoglobulin G Phase 3
20 Immunoglobulins, Intravenous Phase 3
21 gamma-Globulins Phase 3
22
Lenograstim Approved, Investigational Phase 2,Phase 1 135968-09-1
23
Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
24
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
25
Hydroxyurea Approved Phase 2 127-07-1 3657
26
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
27
leucovorin Approved Phase 2,Not Applicable 58-05-9 6006 143
28
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
29
Methotrexate Approved Phase 2,Not Applicable 1959-05-2, 59-05-2 126941
30
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
31
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1,Not Applicable 22916-47-8 4189
32
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
33
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2,Not Applicable 59-30-3 6037
34 Anti-Arrhythmia Agents Phase 2,Phase 1,Not Applicable
35 Neurotransmitter Agents Phase 2,Phase 1,Not Applicable
36 Vasodilator Agents Phase 2,Phase 1,Not Applicable
37 Peripheral Nervous System Agents Phase 2,Phase 1,Not Applicable
38 Analgesics Phase 2,Phase 1,Not Applicable
39 Antilymphocyte Serum Phase 1, Phase 2,Phase 2,Not Applicable
40 Antineoplastic Agents, Immunological Phase 2,Phase 1,Not Applicable
41 Thymoglobulin Phase 1, Phase 2,Phase 2
42 Nucleic Acid Synthesis Inhibitors Phase 2,Not Applicable
43 Antibiotics, Antitubercular Phase 2,Phase 1
44 Vidarabine Phosphate Phase 2
45 Antitubercular Agents Phase 2,Phase 1
46 Vitamin B9 Phase 2,Not Applicable
47 Folate Phase 2,Not Applicable
48 Calcineurin Inhibitors Phase 2,Phase 1,Not Applicable
49 Folic Acid Antagonists Phase 2,Not Applicable
50 Dermatologic Agents Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 72)
# Name Status NCT ID Phase Drugs
1 Retroviral Insertion Site Methodology Study Not yet recruiting NCT03311074 Phase 4
2 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
3 Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients Completed NCT00220766 Phase 3 Immune Globulin Intravenous [Human], 10% Caprylate/Chromatography Purified;Dextrose, 5% in Water
4 EZN-2279 in Patients With ADA-SCID Active, not recruiting NCT01420627 Phase 3
5 Gene Therapy for X-linked Severe Combined Immunodeficiency Unknown status NCT01410019 Phase 1, Phase 2
6 MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID Completed NCT00794508 Phase 2
7 Autologous Transplant of EFS-ADA Modified Bone Marrow Cells for ADA-Deficient Severe Combined Immunodeficiency (SCID) Completed NCT01852071 Phase 1, Phase 2
8 Gene Therapy for ADA-SCID Completed NCT00599781 Phase 1, Phase 2
9 IMM 0212: Busulfan With Fludarabine and Antithymocyte Globulin as Preparative Therapy for Hematopoietic Stem Cell Transplant for the Treatment of Severe Congenital T-Cell Immunodeficiency Completed NCT00228852 Phase 1, Phase 2 Busulfan, Fludarabine and ATG
10 Gene Therapy ADA Deficiency Completed NCT01279720 Phase 1, Phase 2
11 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
12 Autologous Gene Therapy for Artemis-Deficient SCID Recruiting NCT03538899 Phase 1, Phase 2 AProArt;Busulfan
13 Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants Recruiting NCT01512888 Phase 1, Phase 2 Busulfan
14 Lentiviral Gene Transfer for Treatment of Children Older Than Two Years of Age With X-Linked Severe Combined Immunodeficiency (XSCID) Recruiting NCT01306019 Phase 1, Phase 2 Busulfan
15 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
16 Gene Transfer for SCID-X1 Using a Self-inactivating Lentiviral Vector (TYF-IL-2Rg) Recruiting NCT03217617 Phase 1, Phase 2
17 Conditioning SCID Infants Diagnosed Early Recruiting NCT03619551 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 Gene Therapy for Patients With ADA Adenosine Deaminase (ADA) Deficiency Recruiting NCT03765632 Phase 1, Phase 2 Lentiviral transduced CD34+ cells
20 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
21 Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
22 Alpha/Beta T and CD19+ Depleted Peripheral Stem Cells for Patients With Primary Immunodeficiencies Recruiting NCT02990819 Phase 2
23 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
24 Gene Transfer for Severe Combined Immunodeficiency, X-linked (SCID-X1) Using a Self-inactivating (SIN) Gammaretroviral Vector Active, not recruiting NCT01129544 Phase 1, Phase 2
25 Autologous Cryopreserved CD34+ Hematopoietic Cells Transduced With EFS-ADA Lentivirus for ADA SCID Active, not recruiting NCT02999984 Phase 1, Phase 2
26 Lentiviral Gene Therapy for Adenosine Deaminase (ADA) Deficiency Active, not recruiting NCT01380990 Phase 1, Phase 2
27 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID Active, not recruiting NCT00598481 Phase 2
28 Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies Active, not recruiting NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
29 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Enrolling by invitation NCT01852370 Phase 1, Phase 2
30 Haplocompatible Transplant Using TCRα/β Depletion Followed by CD45RA-Depleted Donor Lymphocyte Infusions for Severe Combined Immunodeficiency (SCID) Not yet recruiting NCT03597594 Phase 1, Phase 2 Anti-thymocyte globulin (rabbit);Busulfan;Fludarabine;Thiotepa
31 Safety and Efficacy Study of Human T Lymphoid Progenitor (HTLP) Injection After Partially HLA Compatible Allogeneic Hematopoietic Stem Cell Transplantation in SCID Patients Not yet recruiting NCT03879876 Phase 1, Phase 2
32 Treatment for Growth Failure in Patients With X-Linked Severe Combined Immunodeficiency: Phase 2 Study of Insulin-Like Growth Factor-1 Terminated NCT00490100 Phase 1, Phase 2 Increlex
33 Hematopoietic Stem Cell Transplantation (HSCT) for Children With SCID Utilizing Alemtuzumab, Plerixafor & Filgrastim Terminated NCT01182675 Phase 2 Transplant Conditioning with Mobilization Only;Transplant Conditioning with Mobilization and Alemtuzumab
34 SCID Bu/Flu/ATG Study With T Cell Depletion Terminated NCT02127892 Phase 1, Phase 2
35 Allogeneic SCT Of Pts With SCID And Other Primary Immunodeficiency Disorders Terminated NCT00579137 Phase 1, Phase 2 Fludarabine
36 Sirolimus Prophylaxis for aGVHD in TME SCID Withdrawn NCT02177760 Phase 2 Sirolimus
37 Transplantation of Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome Completed NCT00152100 Phase 1 Filgrastim, Alemtuzumab
38 Stem Cell Gene Therapy to Treat X-Linked Severe Combined Immunodeficiency (XSCID) Completed NCT00028236 Phase 1 Gene-Transduced Autologous CD34+ Stem Cells
39 Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency Completed NCT00018018 Phase 1 CD34+ cells transduced with ADA retrovir
40 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
41 Total-Body Irradiation Followed By Cyclosporine and Mycophenolate Mofetil in Treating Patients With Severe Combined Immunodeficiency Undergoing Donor Bone Marrow Transplant Active, not recruiting NCT00008450 Phase 1 Cyclosporine;Mycophenolate Mofetil
42 Multivirus-specific Cytotoxic T Lymphocytes (mCTL) Active, not recruiting NCT02510404 Phase 1
43 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
44 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Active, not recruiting NCT02231710 Phase 1
45 Safety and Early Efficacy Study of TBX-1400 in Patients With Severe Combined Immunodeficiency Not yet recruiting NCT02860559 Phase 1
46 Lentiviral Gene Therapy for X-linked Severe Combined Immunodeficiency Not yet recruiting NCT03601286 Phase 1 Lentiviral vector transduced CD34+ cells
47 Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China Unknown status NCT02231983
48 Gene Therapy for X-linked Severe Combined Immunodeficiency (SCID-X1) Unknown status NCT01175239 Not Applicable
49 A Single-arm Safety Study of Transplantation Using Umbilical Cord Blood and Human Placental-derived Stem Cells From Partially Matched Related Donors in Persons With Certain Malignant Blood Diseases and Non-malignant Disorders Unknown status NCT00596999
50 Generalized Neonatal Screening of Severe Combined Immunodeficiencies Completed NCT02244450 Not Applicable

Search NIH Clinical Center for Severe Combined Immunodeficiency

Inferred drug relations via UMLS 74 / NDF-RT 52 :


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 30

Anatomical Context for Severe Combined Immunodeficiency

MalaCards organs/tissues related to Severe Combined Immunodeficiency:

42
T Cells, Bone, Bone Marrow, B Cells, Skin, Testes, Thymus
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 1340)
# Title Authors Year
1
Severe combined immunodeficiency (SCID) presenting in childhood, with agammaglobulinemia, associated with novel compound heterozygous mutations in DCLRE1C. ( 30630113 )
2019
2
Hematopoietic Stem Cell Transplantation Beyond Severe Combined Immunodeficiency: Seeking a Cure for Primary Immunodeficiency. ( 30832892 )
2019
3
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia. ( 30565242 )
2019
4
Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017. ( 30683812 )
2019
5
Lymphopenia and Severe Combined Immunodeficiency (SCID) - Think Before You Ink. ( 30879237 )
2019
6
Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned. ( 30466767 )
2019
7
Successful in utero stem cell transplantation in X-linked severe combined immunodeficiency. ( 30683657 )
2019
8
Persistent systemic rotavirus vaccine infection in a child with X-linked SCID. ( 30687932 )
2019
9
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India. ( 30778343 )
2019
10
Cost-effectiveness of newborn screening for severe combined immunodeficiency. ( 30805731 )
2019
11
Purine Nucleoside Phosphorylate Deficiency Severe Combined Immunodeficiency in an Infant: Subtle Diagnostic Clues. ( 30819998 )
2019
12
Rethinking newborn screening for severe combined immunodeficiency: Lessons from an international partnership for patients with primary immunodeficiencies in Pakistan. ( 30858051 )
2019
13
Low Exposure Busulfan Conditioning to Achieve Sufficient Multi-lineage Chimerism in Patients with Severe Combined Immunodeficiency. ( 30876930 )
2019
14
A Novel FOXN1 Variant Is Identified in Two Siblings with Nude Severe Combined Immunodeficiency. ( 30903456 )
2019
15
Preclinical Development of a Lentiviral Vector for Gene Therapy of X-Linked Severe Combined Immunodeficiency. ( 29707600 )
2018
16
T-Cell Receptor Excision Circles in HIV-Exposed, Uninfected Newborns Measured During a National Newborn Screening Program for Severe Combined Immunodeficiency. ( 29980289 )
2018
17
Antigen Loading (e.g., Glutamic Acid Decarboxylase 65) of Tolerogenic DCs (tolDCs) Reduces Their Capacity to Prevent Diabetes in the Non-Obese Diabetes (NOD)-Severe Combined Immunodeficiency Model of Adoptive Cotransfer of Diabetes As Well As in NOD Mice. ( 29503651 )
2018
18
Bacterial and <i>Pneumocystis</i> Infections in the Lungs of Gene-Knockout Rabbits with Severe Combined Immunodeficiency. ( 29593714 )
2018
19
Antiviral T Cells for Adenovirus in the Pretransplant Period: A Bridge Therapy for Severe Combined Immunodeficiency. ( 29753156 )
2018
20
EBV-positive B-cell lymphoma manifestation of the liver in an infant with RAG1 severe combined immunodeficiency disease. ( 29856523 )
2018
21
Molecular diagnosis of severe combined immunodeficiency using whole-exome sequencing. ( 29937439 )
2018
22
Fatal P. jirovecii and Cytomegalovirus Infections in an Infant with Normal Trecs Count: Pitfalls of Newborn Screening for Severe Combined Immunodeficiency. ( 29613974 )
2018
23
BCGosis in Infants with Severe Combined ImmunoDeficiency (SCID). ( 29417456 )
2018
24
T<sup>+</sup> NK<sup>+</sup> IL-2 Receptor I^ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency. ( 29948574 )
2018
25
Severe Combined Immunodeficiency: A Case Series and Review from a Tertiary Pediatric Hospital. ( 29757593 )
2018
26
Severe combined immunodeficiency in Sting V154M/WT mice. ( 29800647 )
2018
27
Co-appearance of OPV and BCG vaccine-derived complications in two infants with severe combined immunodeficiency. ( 29804197 )
2018
28
X-Linked Severe Combined Immunodeficiency and Hepatoblastoma: A Case Report and Review of Literature. ( 29620683 )
2018
29
Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C. ( 28981982 )
2018
30
High Rates of Positive Severe Combined Immunodeficiency Screening Among Newborns with Severe Intestinal Failure. ( 29505141 )
2018
31
First Occurrence of Plasmablastic Lymphoma in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease Patient and Review of the Literature. ( 29456531 )
2018
32
A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing. ( 29551298 )
2018
33
High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots. ( 29713328 )
2018
34
Newborn Screening for Severe Combined Immunodeficiency. ( 29749587 )
2018
35
A severe combined immunodeficiency disease mouse model of human adenocarcinoma with lepidic-predominant growth. ( 30287185 )
2018
36
Successful Treatment With Ledipasvir/Sofosbuvir in an Infant With Severe Combined Immunodeficiency Caused by Adenosine Deaminase Deficiency With HCV Allowed Gene Therapy with Strimvelis. ( 30014500 )
2018
37
Strimvelis® for Treating Severe Combined Immunodeficiency Caused by Adenosine Deaminase Deficiency: An Evidence Review Group Perspective of a NICE Highly Specialised Technology Evaluation. ( 30334168 )
2018
38
Late thymic deficiency after HLA-haploidentical hematopoietic stem cell transplantation for severe combined immunodeficiency. ( 30529243 )
2018
39
Hematopoietic Stem Cell Transplantation in Primary Immunodeficiencies Beyond Severe Combined Immunodeficiency. ( 30590619 )
2018
40
Clinical management and viral genomic diversity analysis of a child's influenza A(H1N1)pdm09 infection in the context of a severe combined immunodeficiency. ( 30315875 )
2018
41
Rat polyomavirus 2 infection in a colony of X-linked severe combined immunodeficiency rats in Japan. ( 30012933 )
2018
42
Long-Term Health Outcome and Quality of Life Post-HSCT for IL7Rα-, Artemis-, RAG1- and RAG2-Deficient Severe Combined Immunodeficiency: a Single Center Report. ( 30105620 )
2018
43
T-cell replete haploidentical bone marrow transplantation for X-linked severe combined immunodeficiency. ( 30128577 )
2018
44
Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels. ( 30133735 )
2018
45
The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018). ( 30193840 )
2018
46
Rheumatoid-nodule-like cutaneous granuloma associated with recombinase activating gene 1-deficient severe combined immunodeficiency: A rare case. ( 30203448 )
2018
47
Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study). ( 30251145 )
2018
48
T cell dynamics and response of the microbiota after gene therapy to treat X-linked severe combined immunodeficiency. ( 30261899 )
2018
49
Detecting 22q11.2 Deletion Syndrome in Newborns with Low T Cell Receptor Excision Circles from Severe Combined Immunodeficiency Screening. ( 30268402 )
2018
50
Facial vein injection of human cells in severe combined immunodeficiency (SCID) neonatal mice. ( 30364590 )
2018

Variations for Severe Combined Immunodeficiency

ClinVar genetic disease variations for Severe Combined Immunodeficiency:

6 (show top 50) (show all 88)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYOC NM_000261.1(MYOC): c.1102C> T (p.Gln368Ter) single nucleotide variant Likely pathogenic rs74315329 GRCh37 Chromosome 1, 171605478: 171605478
2 MYOC NM_000261.1(MYOC): c.1102C> T (p.Gln368Ter) single nucleotide variant Likely pathogenic rs74315329 GRCh38 Chromosome 1, 171636338: 171636338
3 ADA NM_000022.3(ADA): c.36A> G (p.Val12=) single nucleotide variant Benign rs394105 GRCh37 Chromosome 20, 43264927: 43264927
4 ADA NM_000022.3(ADA): c.36A> G (p.Val12=) single nucleotide variant Benign rs394105 GRCh38 Chromosome 20, 44636286: 44636286
5 ADA NM_000022.2(ADA): c.390G> A (p.Val130=) single nucleotide variant Benign/Likely benign rs61737144 GRCh37 Chromosome 20, 43254298: 43254298
6 ADA NM_000022.2(ADA): c.390G> A (p.Val130=) single nucleotide variant Benign/Likely benign rs61737144 GRCh38 Chromosome 20, 44625657: 44625657
7 ADA NM_000022.3(ADA): c.872C> G (p.Ser291Trp) single nucleotide variant Likely pathogenic rs121908721 GRCh37 Chromosome 20, 43249762: 43249762
8 ADA NM_000022.3(ADA): c.872C> G (p.Ser291Trp) single nucleotide variant Likely pathogenic rs121908721 GRCh38 Chromosome 20, 44621121: 44621121
9 CD3D NM_000732.4(CD3D): c.450+6C> T single nucleotide variant Uncertain significance rs193922617 GRCh37 Chromosome 11, 118210160: 118210160
10 CD3D NM_000732.4(CD3D): c.450+6C> T single nucleotide variant Uncertain significance rs193922617 GRCh38 Chromosome 11, 118339445: 118339445
11 CD3E NM_000733.3(CD3E): c.498G> A (p.Ala166=) single nucleotide variant Benign/Likely benign rs78373007 GRCh37 Chromosome 11, 118184567: 118184567
12 CD3E NM_000733.3(CD3E): c.498G> A (p.Ala166=) single nucleotide variant Benign/Likely benign rs78373007 GRCh38 Chromosome 11, 118313852: 118313852
13 CD3E NM_000733.3(CD3E): c.507C> T (p.Gly169=) single nucleotide variant Conflicting interpretations of pathogenicity rs2231447 GRCh37 Chromosome 11, 118184576: 118184576
14 CD3E NM_000733.3(CD3E): c.507C> T (p.Gly169=) single nucleotide variant Conflicting interpretations of pathogenicity rs2231447 GRCh38 Chromosome 11, 118313861: 118313861
15 CD3E NM_000733.3(CD3E): c.567+65_567+66delGA deletion Uncertain significance rs386134229 GRCh38 Chromosome 11, 118314559: 118314560
16 CD3E NM_000733.3(CD3E): c.567+65_567+66delGA deletion Uncertain significance rs386134229 GRCh37 Chromosome 11, 118185274: 118185275
17 CD3E NM_000733.3(CD3E): c.70+4delA deletion Uncertain significance rs193922619 GRCh37 Chromosome 11, 118178027: 118178027
18 CD3E NM_000733.3(CD3E): c.70+4delA deletion Uncertain significance rs193922619 GRCh38 Chromosome 11, 118307312: 118307312
19 CD3E NM_000733.3(CD3E): c.*98_*101dupAATC duplication Uncertain significance rs193922618 GRCh37 Chromosome 11, 118186355: 118186358
20 CD3E NM_000733.3(CD3E): c.*98_*101dupAATC duplication Uncertain significance rs193922618 GRCh38 Chromosome 11, 118315640: 118315643
21 DCLRE1C NM_001033857.2(DCLRE1C): c.152C> G (p.Pro51Arg) single nucleotide variant Benign/Likely benign rs35441642 GRCh37 Chromosome 10, 14976727: 14976727
22 DCLRE1C NM_001033857.2(DCLRE1C): c.152C> G (p.Pro51Arg) single nucleotide variant Benign/Likely benign rs35441642 GRCh38 Chromosome 10, 14934728: 14934728
23 DCLRE1C NM_001033857.2(DCLRE1C): c.283C> T (p.Leu95=) single nucleotide variant Benign rs7076862 GRCh37 Chromosome 10, 14976414: 14976414
24 DCLRE1C NM_001033857.2(DCLRE1C): c.283C> T (p.Leu95=) single nucleotide variant Benign rs7076862 GRCh38 Chromosome 10, 14934415: 14934415
25 IL7R NM_002185.4(IL7R): c.214G> C (p.Glu72Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148001159 GRCh37 Chromosome 5, 35861085: 35861085
26 IL7R NM_002185.4(IL7R): c.214G> C (p.Glu72Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148001159 GRCh38 Chromosome 5, 35860983: 35860983
27 IL7R NM_002185.4(IL7R): c.271_280dup (p.Ile94Asnfs) duplication Likely pathogenic rs193922640 GRCh37 Chromosome 5, 35867457: 35867466
28 IL7R NM_002185.4(IL7R): c.271_280dup (p.Ile94Asnfs) duplication Likely pathogenic rs193922640 GRCh38 Chromosome 5, 35867355: 35867364
29 IL7R NM_002185.4(IL7R): c.353G> A (p.Cys118Tyr) single nucleotide variant Pathogenic rs193922641 GRCh37 Chromosome 5, 35867539: 35867539
30 IL7R NM_002185.4(IL7R): c.353G> A (p.Cys118Tyr) single nucleotide variant Pathogenic rs193922641 GRCh38 Chromosome 5, 35867437: 35867437
31 IL7R NM_002185.4(IL7R): c.539A> C (p.His180Pro) single nucleotide variant Likely pathogenic rs193922642 GRCh37 Chromosome 5, 35873583: 35873583
32 IL7R NM_002185.4(IL7R): c.539A> C (p.His180Pro) single nucleotide variant Likely pathogenic rs193922642 GRCh38 Chromosome 5, 35873481: 35873481
33 IL7R NM_002185.4(IL7R): c.616_617delCGinsTA (p.Arg206Ter) indel Likely pathogenic rs193922643 GRCh37 Chromosome 5, 35873660: 35873661
34 IL7R NM_002185.4(IL7R): c.616_617delCGinsTA (p.Arg206Ter) indel Likely pathogenic rs193922643 GRCh38 Chromosome 5, 35873558: 35873559
35 IL7R NM_002185.4(IL7R): c.617G> A (p.Arg206Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs193922644 GRCh37 Chromosome 5, 35873661: 35873661
36 IL7R NM_002185.4(IL7R): c.617G> A (p.Arg206Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs193922644 GRCh38 Chromosome 5, 35873559: 35873559
37 IL7R NM_002185.4(IL7R): c.644G> T (p.Gly215Val) single nucleotide variant Likely pathogenic rs193922645 GRCh37 Chromosome 5, 35873688: 35873688
38 IL7R NM_002185.4(IL7R): c.644G> T (p.Gly215Val) single nucleotide variant Likely pathogenic rs193922645 GRCh38 Chromosome 5, 35873586: 35873586
39 IL7R NM_002185.3(IL7R): c.83-18A> G single nucleotide variant Uncertain significance rs193922646 GRCh37 Chromosome 5, 35860936: 35860936
40 IL7R NM_002185.3(IL7R): c.83-18A> G single nucleotide variant Uncertain significance rs193922646 GRCh38 Chromosome 5, 35860834: 35860834
41 IL7R NM_002185.4(IL7R): c.882A> C (p.Leu294Phe) single nucleotide variant Likely pathogenic rs193922647 GRCh37 Chromosome 5, 35876090: 35876090
42 IL7R NM_002185.4(IL7R): c.882A> C (p.Leu294Phe) single nucleotide variant Likely pathogenic rs193922647 GRCh38 Chromosome 5, 35875988: 35875988
43 JAK3 NM_000215.3(JAK3): c.1744C> T (p.Arg582Trp) single nucleotide variant Likely pathogenic rs193922361 GRCh37 Chromosome 19, 17947980: 17947980
44 JAK3 NM_000215.3(JAK3): c.1744C> T (p.Arg582Trp) single nucleotide variant Likely pathogenic rs193922361 GRCh38 Chromosome 19, 17837171: 17837171
45 JAK3 NM_000215.3(JAK3): c.1767C> T (p.Gly589=) single nucleotide variant Pathogenic/Likely pathogenic rs193922362 GRCh37 Chromosome 19, 17947957: 17947957
46 JAK3 NM_000215.3(JAK3): c.1767C> T (p.Gly589=) single nucleotide variant Pathogenic/Likely pathogenic rs193922362 GRCh38 Chromosome 19, 17837148: 17837148
47 JAK3 NM_000215.3(JAK3): c.1890G> A (p.Gln630=) single nucleotide variant Likely benign rs193922363 GRCh37 Chromosome 19, 17946757: 17946757
48 JAK3 NM_000215.3(JAK3): c.1890G> A (p.Gln630=) single nucleotide variant Likely benign rs193922363 GRCh38 Chromosome 19, 17835948: 17835948
49 JAK3 NM_000215.3(JAK3): c.2259C> T (p.Ala753=) single nucleotide variant Benign rs35458530 GRCh37 Chromosome 19, 17945471: 17945471
50 JAK3 NM_000215.3(JAK3): c.2259C> T (p.Ala753=) single nucleotide variant Benign rs35458530 GRCh38 Chromosome 19, 17834662: 17834662

Copy number variations for Severe Combined Immunodeficiency from CNVD:

7
# CNVD ID Chromosom 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 top 50) (show all 55)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.99 CD3D CD3E IL2 IL2RG IL7 IL7R
2
Show member pathways
13.8 CD3D CD3E IL2 IL2RG IL7 IL7R
3
Show member pathways
13.37 IL2 IL2RG IL7 IL7R IL9 JAK3
4
Show member pathways
13.29 IL2 IL2RG IL7 IL7R IL9 MYH7
5
Show member pathways
13.26 CD3D CD3E IL2 IL2RG IL7 IL7R
6
Show member pathways
13.06 CD3D CD3E IL2 IL9 RAC2 ZAP70
7
Show member pathways
12.93 CD3D CD3E JAK3 PTPRC RAC2 ZAP70
8 12.85 IL2 IL2RG IL7 IL7R JAK3 RAC2
9
Show member pathways
12.82 CD3D CD3E IL2 IL9 MYH7 PTPRC
10
Show member pathways
12.77 IL2 IL2RG IL7 IL7R IL9 JAK3
11
Show member pathways
12.64 CD3D CD3E IL2 PTPRC ZAP70
12
Show member pathways
12.59 CD3D CD3E IL2 IL2RG JAK3
13
Show member pathways
12.55 CD3D CD3E IL2 IL2RG JAK3 ZAP70
14 12.49 DCLRE1C LIG4 NHEJ1 PRKDC
15 12.49 CD3E DCLRE1C IL2 JAK3 PTPRC RAG1
16
Show member pathways
12.4 CD3D CD3E IL2 IL9 PTPRC ZAP70
17
Show member pathways
12.37 DCLRE1C LIG4 NHEJ1 PRKDC
18 12.36 CD3D CD3E IL2 IL2RG JAK3
19
Show member pathways
12.35 CD3D CD3E PTPRC ZAP70
20
Show member pathways
12.31 IL2 IL2RG IL7 IL7R IL9 JAK3
21
Show member pathways
12.3 CD3D CD3E PTPRC RAC2 ZAP70
22
Show member pathways
12.25 CD3D CD3E IL2 IL2RG PTPRC RAC2
23
Show member pathways
12.15 IL2 IL2RG JAK3 RAC2
24
Show member pathways
12.14 CD3D CD3E IL2 ZAP70
25
Show member pathways
12.09 IL2 IL2RG IL7 IL7R IL9
26
Show member pathways
12.08 CD3E IL2 IL2RG JAK3
27
Show member pathways
12 CD3D CD3E IL2 IL2RG
28
Show member pathways
11.98 CD3D CD3E PTPRC ZAP70
29
Show member pathways
11.96 CD3D CD3E PTPRC ZAP70
30 11.96 CD3E IL2 IL7 IL7R PTPRC
31
Show member pathways
11.95 CD3D CD3E RAC2 ZAP70
32 11.95 CD3D CD3E RAC2 ZAP70
33
Show member pathways
11.92 IL2 IL2RG JAK3
34 11.9 IL2 IL7R JAK3 PTPRC
35 11.89 CD3D CD3E IL7 IL7R
36 11.76 CD3D CD3E PTPRC
37 11.76 IL2 IL7 IL7R IL9 PTPRC
38 11.75 CD3D CD3E ZAP70
39 11.74 CD3E IL2 IL7R PTPRC
40 11.73 CD3D CD3E ZAP70
41 11.71 CD3E IL2 IL9 ZAP70
42
Show member pathways
11.7 IL2 IL2RG JAK3
43
Show member pathways
11.61 CD3D CD3E IL2 IL2RG
44 11.58 CD3E IL7R PTPRC
45 11.56 CD3D CD3E PTPRC RAC2 ZAP70
46 11.55 CD3D CD3E ZAP70
47 11.35 IL2 IL2RG ZAP70
48
Show member pathways
11.32 IL2RG IL7 IL7R IL9 JAK3
49 11.26 CD3D CD3E IL2
50 11.22 CD3E IL2 IL2RG IL9 JAK3

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 nuclear chromosome, telomeric region GO:0000784 9.58 DCLRE1C LIG4 PRKDC
2 external side of plasma membrane GO:0009897 9.43 ADA CD3D CD3E IL2RG IL7R PTPRC
3 alpha-beta T cell receptor complex GO:0042105 9.37 CD3D CD3E
4 T cell receptor complex GO:0042101 9.33 CD3D CD3E ZAP70
5 DNA-dependent protein kinase-DNA ligase 4 complex GO:0005958 9.32 LIG4 PRKDC
6 DNA ligase IV complex GO:0032807 9.26 LIG4 NHEJ1
7 nonhomologous end joining complex GO:0070419 8.92 DCLRE1C LIG4 NHEJ1 PRKDC

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

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.99 CD3D CD3E IL7R PTPRC
2 adaptive immune response GO:0002250 9.95 CD3D CD3E DCLRE1C IL2 JAK3 RAG1
3 T cell receptor signaling pathway GO:0050852 9.94 CD3D CD3E PTPRC ZAP70
4 double-strand break repair GO:0006302 9.91 DCLRE1C LIG4 NHEJ1 PRKDC
5 double-strand break repair via nonhomologous end joining GO:0006303 9.9 DCLRE1C LIG4 NHEJ1 PRKDC
6 positive regulation of T cell proliferation GO:0042102 9.89 CD3E IL2 JAK3 PTPRC
7 DNA recombination GO:0006310 9.88 DCLRE1C LIG4 PRKDC RAG1 RAG2
8 T cell activation GO:0042110 9.85 ADA CD3E PTPRC ZAP70
9 response to ionizing radiation GO:0010212 9.84 DCLRE1C LIG4 NHEJ1 PRKDC
10 response to gamma radiation GO:0010332 9.8 LIG4 PRKDC PTPRC
11 positive regulation of B cell proliferation GO:0030890 9.8 ADA IL2 IL7 PTPRC
12 positive regulation of calcium-mediated signaling GO:0050850 9.79 ADA CD3E ZAP70
13 interleukin-2-mediated signaling pathway GO:0038110 9.76 IL2 IL2RG JAK3
14 interleukin-7-mediated signaling pathway GO:0038111 9.76 IL2RG IL7 IL7R JAK3
15 negative thymic T cell selection GO:0045060 9.75 CD3E PTPRC ZAP70
16 positive regulation of alpha-beta T cell proliferation GO:0046641 9.73 CD3E PTPRC ZAP70
17 B cell differentiation GO:0030183 9.73 DCLRE1C JAK3 NHEJ1 PTPRC RAG1 RAG2
18 T cell differentiation in thymus GO:0033077 9.72 CD3E LIG4 PRKDC RAG1 RAG2
19 regulation of T cell differentiation GO:0045580 9.7 ADA RAG1
20 interleukin-9-mediated signaling pathway GO:0038113 9.7 IL2RG IL9 JAK3
21 interleukin-15-mediated signaling pathway GO:0035723 9.69 IL2RG JAK3
22 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.69 CD3E PTPRC
23 negative regulation of thymocyte apoptotic process GO:0070244 9.69 ADA JAK3 RAG1
24 positive regulation of organ growth GO:0046622 9.68 IL7 RAG2
25 regulation of JAK-STAT cascade GO:0046425 9.68 JAK3 PTPRC
26 positive regulation of alpha-beta T cell differentiation GO:0046638 9.68 ADA ZAP70
27 positive regulation of isotype switching to IgG isotypes GO:0048304 9.68 IL2 PTPRC
28 positive regulation of T cell differentiation in thymus GO:0033089 9.67 ADA IL7R
29 negative regulation of T cell apoptotic process GO:0070233 9.67 IL7R RAG1
30 interleukin-21-mediated signaling pathway GO:0038114 9.67 IL2RG JAK3
31 positive thymic T cell selection GO:0045059 9.67 CD3D CD3E PTPRC ZAP70
32 negative regulation of T cell mediated cytotoxicity GO:0001915 9.66 IL7R PTPRC
33 T cell receptor V(D)J recombination GO:0033153 9.66 LIG4 PRKDC
34 B cell lineage commitment GO:0002326 9.65 PRKDC RAG2
35 immunoglobulin V(D)J recombination GO:0033152 9.65 LIG4 PRKDC
36 interleukin-4-mediated signaling pathway GO:0035771 9.65 IL2RG JAK3
37 pro-B cell differentiation GO:0002328 9.64 LIG4 PRKDC
38 pre-B cell allelic exclusion GO:0002331 9.63 RAG1 RAG2
39 T cell lineage commitment GO:0002360 9.61 IL7 PRKDC RAG2
40 V(D)J recombination GO:0033151 9.55 DCLRE1C LIG4 PRKDC RAG1 RAG2
41 positive regulation of T cell differentiation GO:0045582 9.43 ADA IL2 IL7 PTPRC RAG1 ZAP70
42 T cell differentiation GO:0030217 9.23 CD3D CD3E IL2 IL7R NHEJ1 PTPRC
43 immune system process GO:0002376 10.16 CD3D CD3E DCLRE1C IL2 JAK3 PRKDC
44 immune response GO:0006955 10.11 IL2 IL2RG IL7 IL7R IL9 RAG1
45 positive regulation of cell proliferation GO:0008284 10.1 IL2 IL7 IL7R IL9 RAC2
46 cytokine-mediated signaling pathway GO:0019221 10.03 IL2 IL2RG IL7 IL7R JAK3

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

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.13 IL2 IL2RG JAK3
2 interleukin-7 receptor activity GO:0004917 8.62 IL2RG IL7R
3 protein binding GO:0005515 10.06 ADA CD3E DCLRE1C IL2 IL2RG IL7

Sources for Severe Combined Immunodeficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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