MCID: CMB003
MIFTS: 44

Combined T Cell and B Cell Immunodeficiency

Categories: Immune diseases

Aliases & Classifications for Combined T Cell and B Cell Immunodeficiency

MalaCards integrated aliases for Combined T Cell and B Cell Immunodeficiency:

Name: Combined T Cell and B Cell Immunodeficiency 12 14
Combined Immunodeficiency 12 29 69
X-Linked Combined Immunodeficiency Diseases 69
Congenital Combined Immunodeficiency 12
X-Linked Combined Immunodeficiency 12

Classifications:



External Ids:

Disease Ontology 12 DOID:628
ICD10 33 D81 D81.9
ICD9CM 35 279.2
NCIt 47 C27871
SNOMED-CT 64 191003005
UMLS 69 C0494261

Summaries for Combined T Cell and B Cell Immunodeficiency

Disease Ontology : 12 A primary immunodeficiency disease that involves multiple components of the immune system, including both humoral immunity and cell-mediated immunity.

MalaCards based summary : Combined T Cell and B Cell Immunodeficiency, also known as combined immunodeficiency, is related to cd40 ligand deficiency and combined immunodeficiency, x-linked, moderate. An important gene associated with Combined T Cell and B Cell Immunodeficiency is IL2RG (Interleukin 2 Receptor Subunit Gamma), and among its related pathways/superpathways are Innate Immune System and Akt Signaling. The drugs alemtuzumab and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and bone marrow, and related phenotypes are hematopoietic system and cellular

Related Diseases for Combined T Cell and B Cell Immunodeficiency

Diseases related to Combined T Cell and B Cell Immunodeficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
id Related Disease Score Top Affiliating Genes
1 cd40 ligand deficiency 32.8 CD3G CD40LG DOCK8
2 combined immunodeficiency, x-linked, moderate 11.7
3 severe combined immunodeficiency, x-linked 11.1
4 lig4 syndrome 11.0
5 immunodeficiency due to purine nucleoside phosphorylase deficiency 11.0
6 immunodeficiency with hyper-igm, type 3 11.0
7 severe combined immunodeficiency 11.0
8 shox-related haploinsufficiency disorders 11.0 RAG1 RAG2
9 cd45 deficiency 11.0 RAG1 RAG2
10 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.9 JAK3 RAG1 RAG2
11 omenn syndrome 10.9 DCLRE1C LIG4
12 cd3gamma deficiency 10.9 CD3G JAK3 ZAP70
13 ehlers-danlos syndrome due to tenascin x deficiency 10.9 RFX5 RFXAP ZAP70
14 solid pattern testicular yolk sac tumor 10.9 CD40LG IL2RG IL7
15 scarlet fever 10.8 DCLRE1C RAG1 RAG2 TFRC
16 composite lymphoma 10.8 IL7R RFX5 RFXAP
17 autoimmune disease of exocrine system 10.8 IL7 JAK3
18 aniridia 3 10.8 RAG1 RAG2
19 tongue cancer 10.8 CD40LG RAG2
20 ceruminous carcinoma 10.8 CD40LG IL2 RAG1
21 severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative, jak3-related 10.8 ADA IL2 JAK3 RAG2
22 cd3epsilon deficiency 10.8 IL2RG IL7 IL7R JAK3
23 malignant otitis externa 10.8 CD34 CD40LG
24 janus kinase-3 deficiency 10.8 DCLRE1C LIG4 PRKDC RAG1
25 opportunistic bacterial infectious disease 10.8 ADA CD40LG IL2
26 agammaglobulinemia, microcephaly, and severe dermatitis 10.7 CD3G CD40LG IL2 ZAP70
27 generalized anxiety disorder 10.7 ADA IL2
28 allergic conjunctivitis 10.7 CD3G IL2 IL7R ZAP70
29 benign mammary dysplasia 10.7 CD34 CD40LG IL2
30 cardiac tuberculosis 10.7 CD34 CD40LG
31 lacrimal system cancer 10.7 CD34 CD40LG IL2 TFRC
32 combined oxidative phosphorylation deficiency 27 10.7 DCLRE1C LIG4 PRKDC RAG1 RAG2
33 acral lentiginous melanoma 10.7 ADA CD34 CD40LG IL2
34 childhood testicular mixed germ cell tumor 10.7 CD3G IL2 IL2RG IL7 RAG1
35 periarthritis 10.7 CD40LG DOCK8
36 peroxisome biogenesis disorder 5a 10.7 CD34 IL7 IL7R RAG1
37 pmm2-congenital disorder of glycosylation 10.6 IL2 JAK3
38 smoking as a quantitative trait locus 1 10.6 CD34 CD40LG IL2 TFRC
39 opitz-kaveggia syndrome 10.6 ADA IL2 IL2RG IL7 IL7R JAK3
40 chronic myocardial ischemia 10.5 ADA CD40LG IL2 IL7 ZAP70
41 duodenum cancer 10.5 IL7 IL7R
42 autoimmune thyroid disease 4 10.5 ADA DCLRE1C IL2RG IL7R LIG4 RAG1
43 carotid artery dissection 10.4 CD40LG IL2 IL7R
44 seborrheic infantile dermatitis 10.3 CD3G CD40LG
45 uterine corpus epithelioid leiomyosarcoma 10.1 ADA CD40LG DCLRE1C IL2 IL2RG IL7
46 silicosis 9.7 ADA DCLRE1C IL2 IL2RG IL7 IL7R
47 leprosy 9.5
48 tuberculoid leprosy 9.5
49 childhood cerebellar astrocytic neoplasm 8.9 ADA BCL11B CD34 CD3G CD40LG DCLRE1C

Graphical network of the top 20 diseases related to Combined T Cell and B Cell Immunodeficiency:



Diseases related to Combined T Cell and B Cell Immunodeficiency

Symptoms & Phenotypes for Combined T Cell and B Cell Immunodeficiency

MGI Mouse Phenotypes related to Combined T Cell and B Cell Immunodeficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.32 RAG1 RAG2 TFRC ZAP70 ADA BCL11B
2 cellular MP:0005384 10.3 IL2 IL2RG IL7R JAK3 LIG4 PRKDC
3 endocrine/exocrine gland MP:0005379 10.28 IL7 IL7R JAK3 LIG4 PRKDC RAG1
4 immune system MP:0005387 10.28 ADA BCL11B CD34 CD3G CD40LG DCLRE1C
5 digestive/alimentary MP:0005381 10.09 ADA IL2 IL2RG JAK3 LIG4 PRKDC
6 integument MP:0010771 9.86 ZAP70 BCL11B CD34 CD40LG PRKDC RAG1
7 liver/biliary system MP:0005370 9.7 ADA IL2 LIG4 PRKDC RAG1 RAG2
8 neoplasm MP:0002006 9.61 IL2RG IL7R LIG4 PRKDC RAG1 RAG2
9 respiratory system MP:0005388 9.17 ADA IL2 IL2RG PRKDC RAG1 RAG2

Drugs & Therapeutics for Combined T Cell and B Cell Immunodeficiency

Drugs for Combined T Cell and B Cell Immunodeficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 86)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1 216503-57-0
2
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1 55-98-1 2478
3
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
4
Fludarabine Approved Phase 2, Phase 3, Phase 1 21679-14-1, 75607-67-9 30751
5
Vidarabine Approved Phase 2, Phase 3,Phase 1 24356-66-9 32326 21704
6
Adenosine Approved, Investigational Phase 3,Phase 2,Phase 1 58-61-7 60961
7 Alkylating Agents Phase 2, Phase 3,Phase 1
8 Anti-Infective Agents Phase 2, Phase 3,Phase 1
9 Antimetabolites Phase 2, Phase 3,Phase 1
10 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 1
11 Antirheumatic Agents Phase 2, Phase 3,Phase 1
12 Antiviral Agents Phase 2, Phase 3,Phase 1
13 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
14 Antibodies Phase 3,Phase 1,Phase 2
15 gamma-Globulins Phase 3
16 Immunoglobulins Phase 3,Phase 1,Phase 2
17 Immunoglobulins, Intravenous Phase 3
18 Rho(D) Immune Globulin Phase 3
19
Lenograstim Approved Phase 2,Phase 1 135968-09-1
20
Melphalan Approved Phase 2 148-82-3 4053 460612
21 Thiotepa Approved Phase 2 52-24-4 5453
22
Hydroxyurea Approved Phase 2 127-07-1 3657
23
Mechlorethamine Approved Phase 2 51-75-2 4033
24
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
25
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
26
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
27
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
28
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
29
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
30
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
31 Analgesics Phase 2,Phase 1
32 Anti-Arrhythmia Agents Phase 2,Phase 1
33 Neurotransmitter Agents Phase 2,Phase 1
34 Peripheral Nervous System Agents Phase 2,Phase 1
35 Vasodilator Agents Phase 2,Phase 1
36 Antilymphocyte Serum Phase 1, Phase 2
37 Nucleic Acid Synthesis Inhibitors Phase 2
38 Anesthetics Phase 1, Phase 2
39 Anti-Bacterial Agents Phase 2,Phase 1
40 Antibiotics, Antitubercular Phase 2,Phase 1
41 Calcineurin Inhibitors Phase 2,Phase 1
42 Dermatologic Agents Phase 2,Phase 1
43 Folic Acid Antagonists Phase 2
44 Vidarabine Phosphate Phase 2
45 Vitamin B Complex Phase 2
46 Antifungal Agents Phase 2,Phase 1
47 Hormones Phase 1, Phase 2
48 Hypoglycemic Agents Phase 1, Phase 2
49 insulin Phase 1, Phase 2
50 Insulin, Globin Zinc Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 62)

id 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 Recruiting NCT01420627 Phase 3
5 MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID Completed NCT00794508 Phase 2
6 Gene Therapy for ADA-SCID Completed NCT00599781 Phase 1, Phase 2
7 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
8 Gene Therapy ADA Deficiency Completed NCT01279720 Phase 1, Phase 2
9 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
10 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
11 Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants Recruiting NCT01512888 Phase 1, Phase 2 Busulfan
12 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
13 Gene Transfer for Severe Combined Immunodeficiency, X-linked (SCID-X1) Using a Self-inactivating (SIN) Gammaretroviral Vector Recruiting NCT01129544 Phase 1, Phase 2
14 Autologous Cryopreserved CD34+ Hematopoietic Cells Transduced With EFS-ADA Lentivirus for ADA SCID Recruiting NCT02999984 Phase 1, Phase 2
15 Gene Transfer for SCID-X1 Using a Self-inactivating Lentiviral Vector Recruiting NCT03217617 Phase 1, Phase 2
16 Lentiviral Gene Therapy for Adenosine Deaminase (ADA) Deficiency Recruiting NCT01380990 Phase 1, Phase 2
17 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
18 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Recruiting NCT01852370 Phase 1, Phase 2
19 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
20 Gene Therapy for X-linked Severe Combined Immunodeficiency Active, not recruiting NCT01410019 Phase 1, Phase 2
21 Autologous Transplant of EFS-ADA Modified Bone Marrow Cells for ADA-Deficient Severe Combined Immunodeficiency (SCID) Active, not recruiting NCT01852071 Phase 1, Phase 2
22 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID Active, not recruiting NCT00598481 Phase 2
23 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
24 Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning Not yet recruiting NCT03311503 Phase 1, Phase 2
25 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
26 SCID Bu/Flu/ATG Study With T Cell Depletion Terminated NCT02127892 Phase 1, Phase 2
27 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
28 Allogeneic SCT Of Pts With SCID And Other Primary Immunodeficiency Disorders Terminated NCT00579137 Phase 1, Phase 2 Fludarabine
29 Sirolimus Prophylaxis for aGVHD in TME SCID Withdrawn NCT02177760 Phase 2 Sirolimus
30 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 Phase 1
31 Transplantation of Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome Completed NCT00152100 Phase 1 Filgrastim, Alemtuzumab
32 Stem Cell Gene Therapy to Treat X-Linked Severe Combined Immunodeficiency (XSCID) Completed NCT00028236 Phase 1 Gene-Transduced Autologous CD34+ Stem Cells
33 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
34 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
35 Multivirus-specific Cytotoxic T Lymphocytes (mCTL) Recruiting NCT02510404 Phase 1
36 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Recruiting NCT02231710 Phase 1
37 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
38 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
39 Safety and Early Efficacy Study of TBX-1400 in Patients With Severe Combined Immunodeficiency Not yet recruiting NCT02860559 Phase 1
40 Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China Unknown status NCT02231983
41 Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency: A Natural History Study Completed NCT00001255 ADA PBSC;ADA Umbilical Cord Blood Cells;Transduced Lymphocytes
42 Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID Completed NCT00006335
43 Newborn Screening for Severe Combined Immunodeficiency (SCID) in a High-Risk Population Completed NCT00845416
44 Developing Newborn Screening for Infants With Primary Immunodeficiency Completed NCT00113464
45 Neonatal Screening of Severe Combined Immunodeficiencies Recruiting NCT02590328
46 Genetic Basis of Immunodeficiency Recruiting NCT00055172
47 Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders Recruiting NCT00895271
48 Patients Treated for SCID (1968-2010) Recruiting NCT01346150
49 Natural History Study of SCID Disorders Recruiting NCT01186913
50 Evaluation of Patients With Immune Function Abnormalities Recruiting NCT00128973

Search NIH Clinical Center for Combined T Cell and B Cell Immunodeficiency

Genetic Tests for Combined T Cell and B Cell Immunodeficiency

Genetic tests related to Combined T Cell and B Cell Immunodeficiency:

id Genetic test Affiliating Genes
1 Combined Immunodeficiency 29

Anatomical Context for Combined T Cell and B Cell Immunodeficiency

MalaCards organs/tissues related to Combined T Cell and B Cell Immunodeficiency:

39
T Cells, B Cells, Bone Marrow, Bone, Skin, Lung, Testes

Publications for Combined T Cell and B Cell Immunodeficiency

Variations for Combined T Cell and B Cell Immunodeficiency

ClinVar genetic disease variations for Combined T Cell and B Cell Immunodeficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 IL2RG NM_000206.2(IL2RG): c.878T> A (p.Leu293Gln) single nucleotide variant Pathogenic rs137852510 GRCh37 Chromosome X, 70328173: 70328173
2 IL2RG NM_000206.2(IL2RG): c.664C> T (p.Arg222Cys) single nucleotide variant Pathogenic rs111033618 GRCh37 Chromosome X, 70329171: 70329171
3 TFRC NM_003234.3(TFRC): c.58T> C (p.Tyr20His) single nucleotide variant Pathogenic rs863225436 GRCh37 Chromosome 3, 195802210: 195802210
4 ZAP70 NM_001079.3(ZAP70): c.574C> T (p.Arg192Trp) single nucleotide variant Pathogenic rs199840952 GRCh37 Chromosome 2, 98349356: 98349356
5 ZAP70 NM_001079.3(ZAP70): c.1079G> C (p.Arg360Pro) single nucleotide variant Pathogenic rs869025224 GRCh38 Chromosome 2, 97734709: 97734709
6 BCL11B NM_138576.3(BCL11B): c.1323T> G (p.Asn441Lys) single nucleotide variant Pathogenic rs750610248 GRCh38 Chromosome 14, 99175513: 99175513

Expression for Combined T Cell and B Cell Immunodeficiency

Search GEO for disease gene expression data for Combined T Cell and B Cell Immunodeficiency.

Pathways for Combined T Cell and B Cell Immunodeficiency

Pathways related to Combined T Cell and B Cell Immunodeficiency according to GeneCards Suite gene sharing:

(show all 27)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.94 CD34 CD3G CD40LG IL2 IL2RG IL7
2
Show member pathways
13.26 CD3G CD40LG IL2 IL2RG IL7 IL7R
3
Show member pathways
13.24 CD40LG IL2 IL2RG IL7 IL7R JAK3
4
Show member pathways
12.76 CD3G CD40LG IL2 RFX5 RFXAP
5
Show member pathways
12.7 IL2 IL2RG IL7 IL7R JAK3
6
Show member pathways
12.48 CD3G IL2 IL2RG JAK3 ZAP70
7
Show member pathways
12.34 CD3G CD40LG IL2 ZAP70
8 12.33 CD3G IL2 IL2RG JAK3
9
Show member pathways
12.27 CD3G CD40LG IL2 IL2RG ZAP70
10 12.25 BCL11B CD34 CD40LG DCLRE1C IL2 JAK3
11
Show member pathways
12.04 IL2 IL2RG IL7 IL7R JAK3
12 11.88 CD34 IL2 IL7 IL7R
13
Show member pathways
11.86 CD3G IL2 IL2RG
14 11.67 ADA CD34 RAG2
15 11.66 CD34 IL2 IL7R
16 11.64 CD34 IL2 IL7 IL7R
17 11.64 CD34 CD3G IL7 IL7R TFRC
18
Show member pathways
11.59 IL2 IL2RG JAK3
19 11.56 CD40LG IL2RG JAK3
20
Show member pathways
11.54 CD3G IL2 IL2RG
21 11.46 CD34 CD40LG IL7R
22 11.38 IL2 IL2RG JAK3
23
Show member pathways
11.31 IL2RG IL7 IL7R JAK3
24 11.14 CD40LG IL2 IL2RG ZAP70
25 11.03 DCLRE1C LIG4 PRKDC
26 10.93 ADA CD40LG DCLRE1C IL2RG IL7R JAK3
27 10.88 IL2RG IL7 IL7R JAK3 RAG1 RAG2

GO Terms for Combined T Cell and B Cell Immunodeficiency

Cellular components related to Combined T Cell and B Cell Immunodeficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.43 ADA CD34 CD40LG IL2RG IL7R TFRC
2 T cell receptor complex GO:0042101 9.26 CD3G ZAP70
3 DNA-dependent protein kinase-DNA ligase 4 complex GO:0005958 9.16 LIG4 PRKDC
4 nonhomologous end joining complex GO:0070419 8.8 DCLRE1C LIG4 PRKDC

Biological processes related to Combined T Cell and B Cell Immunodeficiency according to GeneCards Suite gene sharing:

(show all 32)
id Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 9.92 DCLRE1C IL2 JAK3 RAG1 ZAP70
2 positive regulation of T cell proliferation GO:0042102 9.81 CD40LG IL2 JAK3 TFRC
3 double-strand break repair via nonhomologous end joining GO:0006303 9.8 DCLRE1C LIG4 PRKDC
4 double-strand break repair GO:0006302 9.8 DCLRE1C LIG4 PRKDC
5 DNA recombination GO:0006310 9.8 DCLRE1C LIG4 PRKDC RAG1 RAG2
6 response to ionizing radiation GO:0010212 9.79 DCLRE1C LIG4 PRKDC
7 T cell activation GO:0042110 9.78 ADA CD3G ZAP70
8 positive regulation of B cell proliferation GO:0030890 9.78 ADA IL2 IL7 TFRC
9 thymus development GO:0048538 9.77 BCL11B PRKDC RAG1
10 T cell differentiation GO:0030217 9.73 IL2 IL7R RAG2 ZAP70
11 positive regulation of calcium-mediated signaling GO:0050850 9.65 ADA ZAP70
12 isotype switching GO:0045190 9.65 CD40LG LIG4
13 positive regulation of organ growth GO:0046622 9.65 IL7 RAG2
14 B cell differentiation GO:0030183 9.65 CD40LG DCLRE1C JAK3 RAG1 RAG2
15 regulation of T cell differentiation GO:0045580 9.64 ADA RAG1
16 positive regulation of alpha-beta T cell differentiation GO:0046638 9.64 ADA ZAP70
17 positive regulation of T cell differentiation in thymus GO:0033089 9.63 ADA IL7R
18 negative regulation of thymocyte apoptotic process GO:0070244 9.63 ADA JAK3 RAG1
19 negative regulation of T cell apoptotic process GO:0070233 9.62 DOCK8 RAG1
20 pro-B cell differentiation GO:0002328 9.59 LIG4 PRKDC
21 interleukin-4-mediated signaling pathway GO:0035771 9.58 IL2RG JAK3
22 B cell lineage commitment GO:0002326 9.58 PRKDC RAG2
23 immunoglobulin V(D)J recombination GO:0033152 9.57 LIG4 PRKDC
24 pre-B cell allelic exclusion GO:0002331 9.55 RAG1 RAG2
25 T cell differentiation in thymus GO:0033077 9.55 BCL11B LIG4 PRKDC RAG1 RAG2
26 interleukin-7-mediated signaling pathway GO:0038111 9.54 IL2RG IL7R
27 T cell lineage commitment GO:0002360 9.54 IL7 PRKDC RAG2
28 T cell receptor V(D)J recombination GO:0033153 9.5 BCL11B LIG4 PRKDC
29 positive regulation of T cell differentiation GO:0045582 9.35 ADA IL2 IL7 RAG1 ZAP70
30 V(D)J recombination GO:0033151 9.02 DCLRE1C LIG4 PRKDC RAG1 RAG2
31 immune response GO:0006955 10.04 CD40LG IL2 IL2RG IL7 IL7R RAG1
32 negative regulation of apoptotic process GO:0043066 10.03 ADA BCL11B CD40LG IL2 IL7 PRKDC

Molecular functions related to Combined T Cell and B Cell Immunodeficiency according to GeneCards Suite gene sharing:

id 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

Sources for Combined T Cell and B Cell Immunodeficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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