MCID: CMB003
MIFTS: 42

Combined T Cell and B Cell Immunodeficiency malady

Categories: Immune diseases

Aliases & Classifications for Combined T Cell and B Cell Immunodeficiency

Aliases & Descriptions 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 severe combined immunodeficiency, x-linked and severe combined immunodeficiency, athabascan type. 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 Ritonavir and Rifampin have been mentioned in the context of this disorder. Affiliated tissues include b cells and t cells, and related phenotypes are hematopoietic system and endocrine/exocrine gland

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 43)
id Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency, x-linked 12.4
2 severe combined immunodeficiency, athabascan type 12.4
3 combined immunodeficiency, x-linked, moderate 11.8
4 lig4 syndrome 11.1
5 immunodeficiency due to purine nucleoside phosphorylase deficiency 11.1
6 immunodeficiency with hyper-igm, type 3 11.1
7 severe combined immunodeficiency 11.1
8 cd40 ligand deficiency 11.1
9 slc6a20-related hyperglycinuria 10.3 RAG1 RAG2
10 interleukin-7 receptor alpha deficiency 10.3 RAG1 RAG2
11 combined cellular and humoral immune defects with granulomas 10.3 JAK3 RAG1 RAG2
12 nephrotic syndrome, type 4 10.3 RAG1 RAG2
13 autoimmune thyroid disease 4 10.2 DCLRE1C LIG4
14 slc16a1-related hyperinsulinism 10.2 ADA JAK3 RAG1 RAG2
15 cd3gamma deficiency 10.1 IL2RG IL7 IL7R JAK3
16 recombinase activating gene 1 deficiency 10.1 DCLRE1C LIG4 PRKDC RAG1
17 lujan-fryns syndrome 10.1 CIITA DCLRE1C IL2RG PRKDC
18 neuropathy, hereditary thermosensitive 10.1 CD40LG IL2 ZAP70
19 foodborne botulism 10.1 ADA CD40LG IL2
20 porencephaly 1 10.0 DCLRE1C LIG4 PRKDC RAG1 RAG2
21 adult lymphoma 10.0 CIITA IL7R RFX5 RFXAP
22 ritscher-schinzel syndrome 1 10.0 CD34 CD40LG
23 prostatic urethral cancer 10.0 IL2 IL2RG IL7 IL7R RAG1
24 acute dacryoadenitis 10.0 CD34 CD40LG IL2
25 acute myocarditis 10.0 IL15 IL2
26 anus leiomyosarcoma 10.0 CD40LG IL2 IL7 IL7R
27 multiple carboxylase deficiency 10.0 IL15 IL2 IL7
28 anterior foramen magnum meningioma 10.0 ADA CD34 CD40LG IL2
29 opitz-kaveggia syndrome 10.0 ADA IL2 IL2RG IL7 IL7R JAK3
30 pre-malignant neoplasm 9.9 IL15 IL2 IL7
31 beach ear 9.9 CD34 CD40LG
32 advanced sleep phase syndrome, familial, 1 9.9 CD40LG CIITA IL2 IL7R
33 atrial fibrillation, familial, 11 9.9 CIITA IL7R JAK3 RAG1 RFX5 RFXAP
34 cockayne syndrome, type b 9.9 ADA DCLRE1C IL2RG IL7R LIG4 RAG1
35 exophthalmos 9.9 CD40LG IL15 IL2 IL7R
36 squamous cell papilloma of skin 9.8 CD40LG IL15 IL2 IL2RG IL7
37 phosphoserine phosphatase deficiency 9.8 CD34 IL7 IL7R LMO2 RAG1
38 chronic venous leg ulcers 9.8 ADA CD40LG IL2 IL7 ZAP70
39 childhood choriocarcinoma of the testis 9.7 ADA CD40LG DCLRE1C DOCK8 IL2 IL2RG
40 leprosy 9.5
41 tuberculoid leprosy 9.5
42 single ventricular heart 9.0 ADA DCLRE1C IL15 IL2 IL2RG IL7
43 ectopic thymus 8.2 ADA CD34 CD40LG CIITA DCLRE1C DOCK8

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 ADA CD34 CD40LG CIITA DCLRE1C DOCK8
2 endocrine/exocrine gland MP:0005379 10.28 RAG1 RAG2 ZAP70 ADA CD40LG CIITA
3 immune system MP:0005387 10.28 CD34 CD40LG CIITA DCLRE1C DOCK8 IL15
4 cellular MP:0005384 10.23 CD34 CD40LG DCLRE1C IL2 IL2RG IL7R
5 digestive/alimentary MP:0005381 10.03 LIG4 PRKDC RAG1 RAG2 ADA IL2
6 neoplasm MP:0002006 9.81 CD34 IL2 IL2RG IL7R LIG4 LMO2
7 liver/biliary system MP:0005370 9.8 ADA IL2 LIG4 LMO2 PRKDC RAG1
8 respiratory system MP:0005388 9.5 ADA IL2 IL2RG PRKDC RAG1 RAG2
9 skeleton MP:0005390 9.28 ADA CD40LG CIITA IL2RG LMO2 PRKDC

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 177)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 2 155213-67-5 392622
2
Rifampin Approved Phase 4 13292-46-1 5458213 5381226
3
Lopinavir Approved Phase 4,Phase 3,Phase 2 192725-17-0 92727
4
Efavirenz Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 154598-52-4 64139
5
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147127-20-6 464205
6
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 134678-17-4 60825
7
Isoniazid Approved Phase 4 54-85-3 3767
8
Pyrazinamide Approved Phase 4 98-96-4 1046
9
Maraviroc Approved, Investigational Phase 4,Phase 2,Phase 1 376348-65-1 3002977
10
Emtricitabine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 143491-57-0 60877
11
Ethambutol Approved Phase 4 74-55-5 3279 14052
12
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
13
Pyridoxal Approved, Nutraceutical Phase 4 66-72-8 1050
14 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
15 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1
16 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
17 Antimetabolites Phase 4,Phase 2,Phase 3,Phase 1
18 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1
19 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
20 Antiviral Agents Phase 4,Phase 2,Phase 3,Phase 1
21
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1
22 HIV Integrase Inhibitors Phase 4,Phase 3,Phase 2
23 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
24 Cytochrome P-450 CYP2C9 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
25 Cytochrome P-450 CYP3A Inducers Phase 4,Phase 3,Phase 2,Phase 1
26 Cytochrome P-450 CYP3A Inhibitors Phase 4,Phase 3,Phase 2
27 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
28 Efavirenz, Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 4,Phase 2
29 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 4,Phase 3,Phase 2,Phase 1
30 Vitamin B 6 Phase 4
31 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
32 Hypolipidemic Agents Phase 4
33 Integrase Inhibitors Phase 4,Phase 3,Phase 2
34 Lipid Regulating Agents Phase 4
35 Raltegravir Potassium Phase 4,Phase 3,Phase 2
36 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 1
37 Atazanavir Sulfate Phase 4,Phase 3,Phase 2
38 Antitubercular Agents Phase 4
39
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
40
Fludarabine Approved Phase 2, Phase 3, Phase 1 21679-14-1, 75607-67-9 30751
41
Vidarabine Approved Phase 2, Phase 3,Phase 1 24356-66-9 32326 21704
42
Didanosine Approved Phase 3,Phase 2 69655-05-6 50599
43
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1 55-98-1 2478
44
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1 216503-57-0
45
Indinavir Approved Phase 3 150378-17-9 5362440
46
Zidovudine Approved Phase 3,Phase 2,Phase 1 30516-87-1 35370
47
Stavudine Approved, Investigational Phase 3 3056-17-5 18283
48
Adenosine Approved, Investigational Phase 3,Phase 2,Phase 1 58-61-7 60961
49
Abacavir Approved, Investigational Phase 3,Phase 2 136470-78-5 65140 441300
50
Darunavir Approved Phase 3,Phase 2,Phase 1 635728-49-3, 206361-99-1 213039

Interventional clinical trials:

(show top 50) (show all 121)
id Name Status NCT ID Phase
1 Once-daily Antiretroviral Therapy in HIV-1 Infected Patients With CD4+ Cell Counts Below 100 Cells/Mcl Completed NCT00532168 Phase 4
2 A Pilot Project of Virologic, Pharmacologic and Immunologic Correlates of Gastrointestinal-Associated Lymphoid Tissue Immune Reconstitution Following Maraviroc Therapy Completed NCT00870363 Phase 4
3 REMEMBER: Reducing Early Mortality & Morbidity by Empiric Tuberculosis (TB) Treatment Completed NCT01380080 Phase 4
4 FOTO: Five Consecutive Days on Treatment With Efavirenz, Tenofovir, and Emtricitabine Followed by Two Days Off Treatment Versus Continuous Treatment Completed NCT00414635 Phase 4
5 Anti-Retrovirals for Kaposi's Sarcoma Completed NCT00444379 Phase 4
6 Hepatic Safety of Raltegravir Versus Efavirenz as HIV Therapy for Patients With HIV and HCV Coinfection Active, not recruiting NCT01147107 Phase 4
7 Optimization of Antiretroviral Therapy Not yet recruiting NCT02935075 Phase 4
8 Immune Reconstitution of Lopinavir/Ritonavir-Based vs Efavirenz-based HAART in Advanced HIV Disease Terminated NCT00775606 Phase 4
9 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3
10 Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients Completed NCT00220766 Phase 3
11 A Study to Evaluate the Use of a Protease Inhibitor and of Interleukin-2 (IL-2) in the Treatment of Early HIV Infection Completed NCT00006154 Phase 3
12 Serological Response to Antipneumococcal Vaccination and Impact on Streptococcus Pneumoniae Nasal Carriage in HIV Adults Completed NCT02123433 Phase 3
13 A New Tablet Containing Two FDA-Approved Drugs In HIV-Infected Patients Who Have Not Received Prior Therapy Completed NCT00053638 Phase 3
14 Comparison of Anti-HIV Drug Combinations to Prevent Mother-to-Child Transmission of HIV Completed NCT00086359 Phase 3
15 Comparative Study of Three NNRTI-Sparing HAART Regimens Completed NCT00811954 Phase 3
16 Safety and Efficacy of Reduced Dose Efavirenz (EFV) With Standard Dose EFV Plus Two Nucleotide Reverse Transcriptase Inhibitors (N(t)RTI) in Antiretroviral-naïve HIV-infected Individuals. Completed NCT01011413 Phase 3
17 EZN-2279 in Patients With ADA-SCID Recruiting NCT01420627 Phase 3
18 Phase II/III Study of the Tolerance and Efficacy of Combined Use of Didanosine (2',3'-Dideoxyinosine; ddI) and Lentinan in HIV-Positive Patients Unknown status NCT00002099 Phase 2
19 MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID Completed NCT00794508 Phase 2
20 Gene Therapy for ADA-SCID Completed NCT00599781 Phase 1, Phase 2
21 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
22 Gene Therapy ADA Deficiency Completed NCT01279720 Phase 1, Phase 2
23 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
24 A Pilot Study of the Combination of Retinoic Acid and Interferon-Alpha2a for the Treatment of Lymphoproliferative Disorders in Children With Immunodeficiency Syndromes Completed NCT00001438 Phase 2
25 Immunogenicity and Safety of 4 Prime-boost Combinations of HIV Vaccine Candidates in Healthy Volunteers Completed NCT02038842 Phase 1, Phase 2
26 Dose-Response Study of Ibalizumab (Monoclonal Antibody) Plus Optimized Background Regimen in Patients With HIV-1 Completed NCT00784147 Phase 2
27 Anti-Tac for Treatment of Leukemia Completed NCT00001941 Phase 1, Phase 2
28 A Pilot Study Of A Novel Treatment Regimen, Maraviroc + Ritonavir Boosted Atazanavir, In Treatment Naive HIV-Infected Patients Completed NCT00827112 Phase 2
29 Phase II Study of AGS‑004 as an Immunotherapeutic in Antiretroviral Therapy (ART)-Treated Subjects Infected With HIV Completed NCT00672191 Phase 2
30 Safety of and Immune Response to Cyclosporine A in Combination With Abacavir Sulfate, Lamivudine, and Zidovudine and Lopinavir/Ritonavir in Adults With Acute HIV Infection Completed NCT00084149 Phase 2
31 Safety and Effectiveness of Adding Either an HIV Vaccine, Interleukin-2, or Both to a Patient's Anti-HIV Drug Combination Completed NCT00006291 Phase 2
32 Raltegravir + Lopinavir/Ritonavir Versus Efavirenz + Tenofovir + Emtricitabine in Treatment Naive Patients Completed NCT00752856 Phase 2
33 Safety and Immunogenicity Study of a Candidate Tuberculosis Vaccine in Human Immunodeficiency Virus (HIV)-Positive Adults Completed NCT01262976 Phase 2
34 Efficacy of VHM After Treatment Interruption in Subjects Initiating ART During Acute HIV Infection Completed NCT02475915 Phase 1, Phase 2
35 Increasing HAART-Induced Immune Restoration With Cyclosporine Completed NCT00031070 Phase 2
36 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
37 Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants Recruiting NCT01512888 Phase 1, Phase 2
38 Gene Transfer for Severe Combined Immunodeficiency, X-linked (SCID-X1) Using a Self-inactivating (SIN) Gammaretroviral Vector Recruiting NCT01129544 Phase 1, Phase 2
39 Autologous Cryopreserved CD34+ Hematopoietic Cells Transduced With EFS-ADA Lentivirus for ADA SCID Recruiting NCT02999984 Phase 1, Phase 2
40 Lentiviral Gene Therapy for Adenosine Deaminase (ADA) Deficiency Recruiting NCT01380990 Phase 1, Phase 2
41 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2
42 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Recruiting NCT01852370 Phase 1, Phase 2
43 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
44 Reducing the Residual Reservoir of HIV-1 Infected Cells in Patients Receiving Antiretroviral Therapy Recruiting NCT02471430 Phase 1, Phase 2
45 Evaluating the Safety and Immunogenicity of HIV Clade C DNA Vaccine and MF59- or AS01B-Adjuvanted Clade C Env Protein Vaccines in Various Combinations in Healthy, HIV-Uninfected Adults Recruiting NCT02915016 Phase 1, Phase 2
46 Evaluating the Safety and Efficacy of Romidepsin in Combination With Antiretroviral Therapy in HIV-Infected Adults With Suppressed Viral Load Recruiting NCT01933594 Phase 1, Phase 2
47 Gene Therapy for X-linked Severe Combined Immunodeficiency Active, not recruiting NCT01410019 Phase 1, Phase 2
48 Gene Therapy for X-linked Severe Combined Immunodeficiency (SCID-X1) Active, not recruiting NCT01175239 Phase 1, Phase 2
49 Autologous Transplant of EFS-ADA Modified Bone Marrow Cells for ADA-Deficient Severe Combined Immunodeficiency (SCID) Active, not recruiting NCT01852071 Phase 1, Phase 2
50 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID Active, not recruiting NCT00598481 Phase 2

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
B Cells, T Cells

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 30)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.92 CD34 CD40LG CIITA IL15 IL2 IL2RG
2
Show member pathways
13.28 CD40LG IL15 IL2 IL2RG IL7 IL7R
3
Show member pathways
13.21 CD40LG CIITA IL15 IL2 IL2RG IL7
4
Show member pathways
12.77 CD40LG CIITA IL15 IL2 RFX5 RFXAP
5
Show member pathways
12.72 CIITA IL15 IL2 IL2RG JAK3
6
Show member pathways
12.7 IL15 IL2 IL2RG IL7 IL7R JAK3
7 12.5 IL2 IL2RG IL7 IL7R JAK3
8 12.35 IL15 IL2 IL2RG JAK3
9
Show member pathways
12.3 CD40LG IL2 IL2RG ZAP70
10 12.25 CD34 CD40LG CIITA DCLRE1C IL2 JAK3
11
Show member pathways
11.97 IL15 IL2 IL2RG IL7 IL7R JAK3
12 11.9 CD34 IL15 IL2 IL7 IL7R
13 11.81 CD34 IL7 IL7R
14 11.76 IL15 IL7R JAK3
15 11.69 ADA CD34 RAG2
16 11.67 CD34 IL2 IL7R
17 11.62 CD34 IL15 IL2 IL7 IL7R
18
Show member pathways
11.61 IL2 IL2RG JAK3
19 11.57 CD40LG IL2RG JAK3
20 11.48 CD34 CD40LG IL7R
21 11.42 IL2 IL2RG JAK3
22
Show member pathways
11.4 IL2RG IL7 IL7R JAK3
23
Show member pathways
11.34 IL15 IL2 IL2RG
24 11.19 CD40LG IL2 IL2RG ZAP70
25 11.18 IL15 IL2 IL7
26
Show member pathways
11.13 IL2 IL2RG JAK3
27 11.12 CD40LG IL15 IL2 IL7
28 11.05 DCLRE1C LIG4 PRKDC
29 10.97 ADA CD40LG CIITA DCLRE1C IL2RG IL7R
30 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 cell surface GO:0009986 9.65 ADA CD34 CD40LG CIITA IL15
2 external side of plasma membrane GO:0009897 9.35 ADA CD34 CD40LG IL2RG IL7R
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 34)
id Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 9.91 DCLRE1C IL2 JAK3 RAG1 ZAP70
2 DNA recombination GO:0006310 9.85 DCLRE1C LIG4 PRKDC RAG1 RAG2
3 immune response GO:0006955 9.81 CD40LG CIITA IL15 IL2 IL2RG IL7
4 double-strand break repair GO:0006302 9.8 DCLRE1C LIG4 PRKDC
5 positive regulation of T cell proliferation GO:0042102 9.8 CD40LG IL15 IL2 JAK3
6 double-strand break repair via nonhomologous end joining GO:0006303 9.79 DCLRE1C LIG4 PRKDC
7 response to ionizing radiation GO:0010212 9.78 DCLRE1C LIG4 PRKDC
8 positive regulation of B cell proliferation GO:0030890 9.73 ADA IL2 IL7
9 T cell differentiation GO:0030217 9.73 IL2 IL7R RAG2 ZAP70
10 T cell differentiation in thymus GO:0033077 9.67 LIG4 PRKDC RAG1 RAG2
11 positive regulation of calcium-mediated signaling GO:0050850 9.66 ADA ZAP70
12 lymph node development GO:0048535 9.66 IL15 IL7R
13 isotype switching GO:0045190 9.65 CD40LG LIG4
14 positive regulation of interleukin-17 production GO:0032740 9.65 IL15 IL2
15 regulation of T cell differentiation GO:0045580 9.65 ADA IL15 RAG1
16 B cell differentiation GO:0030183 9.65 CD40LG DCLRE1C JAK3 RAG1 RAG2
17 positive regulation of organ growth GO:0046622 9.64 IL7 RAG2
18 tyrosine phosphorylation of STAT protein GO:0007260 9.64 IL15 JAK3
19 positive regulation of T cell differentiation in thymus GO:0033089 9.63 ADA IL7R
20 positive regulation of alpha-beta T cell differentiation GO:0046638 9.63 ADA ZAP70
21 negative regulation of T cell apoptotic process GO:0070233 9.61 DOCK8 RAG1
22 positive regulation of tissue remodeling GO:0034105 9.6 IL15 IL2
23 T cell receptor V(D)J recombination GO:0033153 9.59 LIG4 PRKDC
24 pro-B cell differentiation GO:0002328 9.58 LIG4 PRKDC
25 interleukin-4-mediated signaling pathway GO:0035771 9.58 IL2RG JAK3
26 negative regulation of thymocyte apoptotic process GO:0070244 9.58 ADA JAK3 RAG1
27 B cell lineage commitment GO:0002326 9.57 PRKDC RAG2
28 immunoglobulin V(D)J recombination GO:0033152 9.55 LIG4 PRKDC
29 pre-B cell allelic exclusion GO:0002331 9.54 RAG1 RAG2
30 interleukin-7-mediated signaling pathway GO:0038111 9.52 IL2RG IL7R
31 T cell lineage commitment GO:0002360 9.5 IL7 PRKDC RAG2
32 positive regulation of T cell differentiation GO:0045582 9.35 ADA IL2 IL7 RAG1 ZAP70
33 V(D)J recombination GO:0033151 9.02 DCLRE1C LIG4 PRKDC RAG1 RAG2
34 negative regulation of apoptotic process GO:0043066 10.04 ADA 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 cytokine activity GO:0005125 9.26 CD40LG IL15 IL2 IL7
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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