MCID: CMB003
MIFTS: 53

Combined T Cell and B Cell Immunodeficiency

Categories: Blood diseases, Immune diseases, Rare 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 15
Combined Immunodeficiency 12 37 29 6
Syndrome with Combined Immunodeficiency 59
Congenital Combined Immunodeficiency 12

Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:628
KEGG 37 H00093
ICD9CM 35 279.2
NCIt 50 C27871
ICD10 33 D81 D81.9
Orphanet 59 ORPHA331217
UMLS 72 C0494261

Summaries for Combined T Cell and B Cell Immunodeficiency

KEGG : 37
The term combined immunodeficiency (CID) is used to distinguish patients with low, but not absent, T-cell function from those with severe CID (SCID) characterized by profound deficiencies of T- and B-cell (and sometimes NK- cell) function. Hyper-IgM syndrome (HIM) represents a group of distinct entities characterized by defective normal or elevated IgM in the presence of diminished IgG and IgA levels. The genetic anomaly in X-linked hyper-IgM syndrome has been mapped to Xq26, and resides in mutations of the CD40 ligand gene. Missense mutation in exon 7 of the common gamma chain (IL2RG) causes a moderate form of X-linked CID. This point mutation in IL2RG leads to a less severe degree of deficiency in cellular and humoral immunity than that seen in XSCID. Two related deficiencies of recombination activating genes, RAG1 and RAG2 result in a spectrum of SCID called RAG1/RAG2 deficiency and Omenn syndrome. Mutations that lead to total absence of RAG1 or RAG2 gene product (null mutations) are known to lead to SCID without mature lymphoid cells, whereas mutations that result in partial V(D)J recombinase activity due to missense mutation on at least one allele lead to Omenn syndrome. Mutations of both TAP1 and TAP2 genes result in deficient expression of class I HLA proteins on the cell surface with defects in natural killer cell cytotoxicity. Defective expression of major histocompatibility complex (MHC) class II molecules account for 5% of SCID. The genetic lesions responsible for this syndrome do not lie within the MHC-II locus itself, but reside instead in genes encoding transcription factors, RFX5, RFXAP, RFXANK(B), and CIITA, controlling MHC-II expression. ZAP-70 deficiency is inherited in an autosomal recessive manner. Recurrent and opportunistic infections occur within the first year of life. The mutations in genes responsible for CRAC channel function, ORAI1 and STIM1, cause the defect in Ca2+ influx.

MalaCards based summary : Combined T Cell and B Cell Immunodeficiency, also known as combined immunodeficiency, is related to severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative and severe combined immunodeficiency with sensitivity to ionizing radiation. 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 Primary immunodeficiency and Innate Immune System. The drugs Adenosine and Immunoglobulin G have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone and bone marrow, and related phenotypes are Reduced mammosphere formation and hematopoietic system

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

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 top 50) (show all 656)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 35.2 RAG2 RAG1 JAK3
2 severe combined immunodeficiency with sensitivity to ionizing radiation 35.0 RAG1 PRKDC DCLRE1C
3 combined immunodeficiency, x-linked 35.0 ZAP70 IL2RG
4 severe combined immunodeficiency, x-linked 34.4 JAK3 IL7 IL2RG IL2 ADA
5 adenosine deaminase deficiency 34.3 PNP IL2RG ADA
6 omenn syndrome 33.9 RAG2 RAG1 IL2RG DCLRE1C ADA
7 jak3-deficient severe combined immunodeficiency 33.7 JAK3 IL2 IL15
8 immunodeficiency 19 33.6 ZAP70 JAK3
9 combined cellular and humoral immune defects with granulomas 33.4 RAG2 RAG1
10 interleukin-7 receptor alpha deficiency 32.7 JAK3 IL7 IL2RG
11 recombinase activating gene 1 deficiency 32.6 RAG2 RAG1
12 lig4 syndrome 32.6 RAG2 RAG1 PRKDC DCLRE1C
13 purine nucleoside phosphorylase deficiency 32.5 PNP ADA
14 immune deficiency disease 32.4 RAG2 RAG1 JAK3 IL2RG IL2 DOCK8
15 immune defect due to absence of thymus 31.4 ZAP70 PNP IL2
16 lymphopenia 31.1 RAG1 IL7 IL2RG IL2
17 t cell deficiency 30.2 ZAP70 PNP IL2
18 acquired immunodeficiency syndrome 30.1 IL2 CD4 CD34
19 human immunodeficiency virus type 1 29.8 IL7 IL2 CD4 ADA
20 thymic dysplasia 29.8 IL7 IL2RG IL15
21 precursor t-cell acute lymphoblastic leukemia 29.2 LMO2 IL7 IL2RG CD34
22 severe combined immunodeficiency 27.0 ZAP70 RFXAP RFX5 RAG2 RAG1 PRKDC
23 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 12.9
24 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 12.8
25 t-b- severe combined immunodeficiency 12.7
26 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 12.7
27 short-limb skeletal dysplasia with severe combined immunodeficiency 12.7
28 dna repair defect other than combined t-cell and b-cell immunodeficiencies 12.7
29 zap70-related severe combined immunodeficiency 12.6
30 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 12.6
31 combined immunodeficiency with skin granulomas 12.5
32 bare lymphocyte syndrome, type ii 12.4
33 combined immunodeficiency due to crac channel dysfunction 12.4
34 reticular dysgenesis 12.4
35 t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta 12.3
36 severe combined immunodeficiency due to ikk2 deficiency 12.3
37 non-severe combined immunodeficiency 12.3
38 zap70-related combined immunodeficiency 12.3
39 severe combined immunodeficiency, atypical 12.3
40 combined immunodeficiency due to partial rag1 deficiency 12.2
41 severe combined immunodeficiency due to carmil2 deficiency 12.2
42 immunodeficiency 18 12.2
43 immunodeficiency 26 with or without neurologic abnormalities 12.1
44 immunodeficiency 17 12.1
45 immunodeficiency 49 12.0
46 gastrointestinal defects and immunodeficiency syndrome 12.0
47 immunodeficiency 52 12.0
48 zap-70 deficiency 11.9
49 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 11.9
50 immunodeficiency 8 11.9

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 CD34 DCLRE1C JAK3 LMO2 PRKDC RFXAP

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

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.36 ADA CD34 CD4 CD8A DCLRE1C DOCK8
2 cellular MP:0005384 10.34 ADA CD34 CD4 CD8A DCLRE1C DOCK8
3 immune system MP:0005387 10.33 ADA CD34 CD4 CD8A DCLRE1C DOCK8
4 endocrine/exocrine gland MP:0005379 10.3 ADA CD4 CD8A DCLRE1C IL15 IL2
5 digestive/alimentary MP:0005381 10.13 ADA CD4 IL2 IL2RG JAK3 PRKDC
6 mortality/aging MP:0010768 10.03 ADA CD4 CD8A IL15 IL2 IL2RG
7 integument MP:0010771 10.02 CD34 CD4 CD8A LMO2 PRKDC RAG1
8 liver/biliary system MP:0005370 9.87 ADA IL2 LMO2 PRKDC RAG1 RAG2
9 neoplasm MP:0002006 9.76 CD34 IL2 IL2RG LMO2 PRKDC RAG1
10 renal/urinary system MP:0005367 9.5 ADA CD8A IL15 LMO2 PRKDC RAG1
11 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 110)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational Phase 4 58-61-7 60961
2 Immunoglobulin G Phase 3
3 gamma-Globulins Phase 3
4 Immunoglobulins, Intravenous Phase 3
5 Rho(D) Immune Globulin Phase 3
6
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
7
Ezetimibe Approved Phase 2 163222-33-1 150311
8
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
9
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
10
leucovorin Approved Phase 2 58-05-9 143 6006
11
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
12
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
13
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
14
Busulfan Approved, Investigational Phase 2 55-98-1 2478
15
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
16
Lenograstim Approved, Investigational Phase 2 135968-09-1
17
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
18
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
19
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
20
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
21 Micronutrients Phase 2
22 Trace Elements Phase 2
23 Antidotes Phase 2
24 Vitamins Phase 2
25 Hematinics Phase 2
26 Nutrients Phase 2
27 Neurotransmitter Agents Phase 1, Phase 2
28 Analgesics Phase 1, Phase 2
29 Purinergic P1 Receptor Agonists Phase 1, Phase 2
30 Anti-Arrhythmia Agents Phase 1, Phase 2
31 Vasodilator Agents Phase 1, Phase 2
32 Lipid Regulating Agents Phase 2
33 Hypolipidemic Agents Phase 2
34 Anticholesteremic Agents Phase 2
35 Antiviral Agents Phase 2
36 Folic Acid Antagonists Phase 2
37 Vitamin B9 Phase 2
38 Vitamin B Complex Phase 2
39 Folate Phase 2
40 Nucleic Acid Synthesis Inhibitors Phase 2
41 Vidarabine Phosphate Phase 2
42 phenylalanine Phase 2
43 Immunosuppressive Agents Phase 1, Phase 2
44 Cyclosporins Phase 2
45 Adjuvants, Immunologic Phase 2
46 Antineoplastic Agents, Immunological Phase 2
47 Plerixafor octahydrochloride Phase 2
48 Anti-HIV Agents Phase 2
49 Anti-Retroviral Agents Phase 2
50 Antimetabolites Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 80)
# Name Status NCT ID Phase Drugs
1 Methodology Study to Investigate the Utility of Retroviral Insertion Site Analysis in Samples From Subjects Treated With Strimvelis™ Gene Therapy Not yet recruiting NCT03311074 Phase 4
2 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Selected Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
3 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
4 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 Active, not recruiting NCT01420627 Phase 3
5 Protocol No. 2 of Gene Therapy for X-linked Severe Combined Immunodeficiency (SCID-X1) Using a Self Retroviral Vector - SCID2 Unknown status NCT01410019 Phase 1, Phase 2
6 Phase I Gene Therapy Protocol for Adenosine Deaminase Deficiency Completed NCT01279720 Phase 1, Phase 2
7 Treatment of ADA-SCID by Gene Therapy on Somatic Cells Completed NCT00599781 Phase 1, Phase 2
8 Autologous Transplantation of Bone Marrow CD34+ Stem/Progenitor Cells After Addition of a Normal Human ADA cDNA by the EFS-ADA Lentiviral Vector for Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID) Completed NCT01852071 Phase 1, Phase 2
9 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
10 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID Completed NCT00598481 Phase 2
11 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
12 Mechanisms of Antifolate Efficacy in Arthritis Completed NCT00000395 Phase 2 Methotrexate
13 Evaluation of Fludarabine, Busulfan and Alemtuzumab as a Reduced Toxicity Ablative Bone Marrow Stem Cell Transplant Regimen for Children With Stem Cell Defects, Marrow Failure Syndromes, or Myelodysplastic Syndrome (MDS)/Leukemia Completed NCT00301834 Phase 2 busulfan;cyclosporine;fludarabine phosphate;methotrexate;methylprednisolone
14 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
15 Gene Transfer for X-linked Severe Combined Immunodeficiency (SCID-X1) Using a Self-inactivating Lentiviral Vector (TYF-IL-2Rg) Recruiting NCT03217617 Phase 1, Phase 2
16 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
17 Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning Recruiting NCT03311503 Phase 1, Phase 2
18 Lentiviral Gene Transfer for Treatment of Children Older Than 2 Years of Age With X-Linked Severe Combined Immunodeficiency Recruiting NCT01306019 Phase 1, Phase 2 Busulfan
19 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
20 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
21 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
22 Phase II Study for Patients With Primary Immunodeficiencies Using and Cd19+ Depleted Unrelated Donor or Partially Matched Related Donor Peripheral Stem Cells Recruiting NCT02990819 Phase 2
23 PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
24 A Randomized Trial of Low Versus Moderate Exposure Busulfan for Infants With Severe Combined Immunodeficiency (SCID) Receiving TCRαβ+/CD19+ Depleted Transplantation: A Phase II Study by the Primary Immune Deficiency Treatment Consortium (PIDTC) and Pediatric Blood and Marrow Transplant Consortium (PBMTC) Recruiting NCT03619551 Phase 2 Busulfan
25 Ezetimibe as a Safe and Efficacious Treatment for Chronic Hepatitis C Recruiting NCT02971033 Phase 2 20mg ezetimibe;Placebo;40mg ezetimibe
26 Cryopreserved Lentivirus Gene Therapy for Adenosine Deaminase (ADA) Deficiency Recruiting NCT03765632 Phase 1, Phase 2 Lentiviral transduced CD34+ cells
27 Efficacy and Safety of Cryopreserved Formulation of Autologous CD34+ Hematopoietic Stem Cells Transduced Ex Vivo With EFS Lentiviral Vector Encoding for Human ADA Gene in Subjects With Severe Combined Immunodeficiency Due to ADA Deficiency Active, not recruiting NCT02999984 Phase 1, Phase 2
28 Phase I/II, Non-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 Active, not recruiting NCT01380990 Phase 1, Phase 2
29 Multi-institutional Phase I/II Trial Evaluating the Treatment of SCID-X1 Patients With Retrovirus-mediated Gene Transfer Active, not recruiting NCT01129544 Phase 1, Phase 2
30 A Phase II Trial of Reduced Intensity Allogeneic Stem Cell Transplantation With Fludarabine, Melphalan and Low Dose Total Body Irradiation Active, not recruiting NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
31 Bilateral Orthotopic Lung Transplant in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant From Partially HLA-Matched Cadaveric Donors Enrolling by invitation NCT01852370 Phase 1, Phase 2
32 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 Not yet recruiting NCT03879876 Phase 1, Phase 2
33 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
34 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
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 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
38 Hematopoietic Stem Cells Transplantation in Children With Combined Immunodeficiency (CID): Selective Depletion of Naive Cells From the Graft Terminated NCT02737384 Phase 2
39 Allogeneic Hematopoietic Cell Transplantation for Patients With Acute Lymphoblastic Leukemia in Remission Using HLA-matched Sibling Donors, HLA-matched Unrelated Donors, or HLA-mismatched Familial Donors-A Phase 2 Study Terminated NCT01037764 Phase 2
40 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
41 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
42 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
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 Phase I/II Trial of Recombinant Interleukin-2 In Symptomatic Human Immunodeficiency Virus-Infected Children Completed NCT00000849 Phase 1 Aldesleukin
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 A Phase 1 Study to Evaluate the Safety and Tolerability of Tandemly-purified Allogenic CD34+CD90+ HSC Administered Following Conditioning With AMG 191 to Achieve Engraftment and Immune Reconstitution in Patients With SCID Recruiting NCT02963064 Phase 1
47 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
48 Treatment of EBV, CMV, and Adenovirus Infections in Primary Immunodeficiency Disorders With Viral-specific Cytotoxic T-Lymphocytes Active, not recruiting NCT02510404 Phase 1
49 Safety and Early Efficacy Study of TBX-1400 in Patients With Severe Combined Immunodeficiency Not yet recruiting NCT02860559 Phase 1
50 Gene Therapy for SCID-X1 Using a Self-inactivating (SIN) Gammaretroviral Vector Unknown status NCT01175239

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:

# 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:

41
T Cells, Bone, Bone Marrow, B Cells, Liver, Skin, Lung

Publications for Combined T Cell and B Cell Immunodeficiency

Articles related to Combined T Cell and B Cell Immunodeficiency:

(show top 50) (show all 5477)
# Title Authors PMID Year
1
Repurposing existing drugs: identification of irreversible IMPDH inhibitors by high-throughput screening. 38
30451014 2019
2
Establishment of cell line and in vivo mouse model of canine Langerhans cell histiocytosis. 38
30884050 2019
3
Severe Combined Immunodeficiency: A Guide for Primary Care Givers. 38
31282184 2019
4
Leishmaniasis and autoimmunity in patient with LPS-responsive beige-like anchor protein (LRBA) deficiency. 38
31389321 2019
5
Suppression of Active HIV-1 Infection in CD34+ Hematopoietic Humanized NSG Mice by a Combination of Combined Antiretroviral Therapy and CCR5 Targeting Drugs. 38
31099257 2019
6
Combined Analysis of Metabolomes, Proteomes, and Transcriptomes of Hepatitis C Virus-Infected Cells and Liver to Identify Pathways Associated With Disease Development. 38
30978357 2019
7
Outcomes of Related and Unrelated Donor Searches Among Patients with Primary Immunodeficiency Diseases Referred for Allogeneic Hematopoietic Cell Transplantation. 38
30986499 2019
8
Generation of hematopoietic cells from mouse pluripotent stem cells in a 3D culture system of self-assembling peptide hydrogel. 38
31389001 2019
9
Noncoding RNA transcription at enhancers and genome folding in cancer. 38
31228211 2019
10
Optimal titer of anti-HBs in blood components derived from donors with anti-HBc. 38
31168835 2019
11
Efficient in vivo bone formation by BMP-2 engineered human mesenchymal stem cells encapsulated in a projection stereolithographically fabricated hydrogel scaffold. 38
31412905 2019
12
Application of Highly Immunocompromised Mice for the Establishment of Patient-Derived Xenograft (PDX) Models. 38
31412684 2019
13
Discovery of high affinity, pan-allelic, and pan-mammalian reactive antibodies against the myeloid checkpoint receptor SIRPα. 38
31257988 2019
14
Compound Heterozygous DOCK8 Mutations in a Patient with B Lymphoblastic Leukemia and EBV-Associated Diffuse Large B Cell Lymphoma. 38
31267431 2019
15
Establishment and characterization of a novel cell line of medullary thyroid carcinoma from a dog. 38
31144267 2019
16
Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections. 38
31071452 2019
17
Combined immunodeficiency in a patient with c-Rel deficiency. 38
31103457 2019
18
Novel Exonic Deletions in TTC7A in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency. 38
31342292 2019
19
Latin-American Consensus on the Supportive Management of Patients with Severe Combined Immunodeficiency. 38
31419546 2019
20
Bacille Calmette-Guerin (BCG) complications in children with severe combined immunodeficiency (SCID). 38
31204539 2019
21
Disseminated Bacille Calmette-Guérin infection in a patient with severe combined immunodeficiency caused by JAK3 gene mutation. 38
31309596 2019
22
Dexamethasone does not prevent malignant cell reintroduction in leukemia patients undergoing ovarian transplant: risk assessment of leukemic cell transmission by a xenograft model. 38
31339993 2019
23
Allogeneic hematopoietic stem cell and liver transplantation in a young girl with dedicator of cytokinesis 8 protein deficiency. 38
31297914 2019
24
Pharmacological blockade of the CD39/CD73 pathway but not adenosine receptors augments disease in a humanized mouse model of graft-versus-host disease. 38
30957314 2019
25
The A2A receptor agonist CGS 21680 has beneficial and adverse effects on disease development in a humanised mouse model of graft-versus-host disease. 38
31051404 2019
26
Infectivity of GII.4 human norovirus does not differ between T-B-NK+ severe combined immunodeficiency (SCID) and non-SCID gnotobiotic pigs, implicating the role of NK cells in mediation of human norovirus infection. 38
31054932 2019
27
An overview of how on call consultant paediatricians can recognise and manage severe primary immunodeficiencies. 38
31278775 2019
28
Prevention of transfusion-transmitted cytomegalovirus infection using leukoreduced blood components in patients receiving seronegative umbilical cord blood transplantation. 38
31322734 2019
29
Malt1 deficient mice develop osteoporosis independent of osteoclast-intrinsic effects of Malt1 deficiency. 38
31313375 2019
30
Establishment of a non-small-cell lung cancer-liver metastasis patient-derived tumor xenograft model for the evaluation of patient-tailored chemotherapy. 38
31221816 2019
31
Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature. 38
30869812 2019
32
Glycosylation in lymphoma: Biology and glycotherapy. 38
31317621 2019
33
Hepatocellular Carcinoma Xenografts Established From Needle Biopsies Preserve the Characteristics of the Originating Tumors. 38
31334445 2019
34
Low Exposure Busulfan Conditioning to Achieve Sufficient Multilineage Chimerism in Patients with Severe Combined Immunodeficiency. 38
30876930 2019
35
Acute kidney injury in an infant with severe combined immunodeficiency: Questions. 38
31313000 2019
36
Acute kidney injury in an infant with severe combined immunodeficiency: Answers. 38
31313001 2019
37
Lymphopenia and Severe Combined Immunodeficiency (SCID) - Think Before You Ink. 38
30879237 2019
38
Considerations for hematopoietic stem cell transplantation in primary immunodeficiency disorders. 38
31392129 2019
39
Gene therapy for primary immunodeficiency. 38
31297531 2019
40
Genetic screening for cerebellar abiotrophy, severe combined immunodeficiency and lavender foal syndrome in Arabian horses in Poland. 38
31113566 2019
41
The role of breast-feeding in cytomegalovirus transmission and hematopoietic stem cell transplant outcomes in infants with severe combined immunodeficiency. 38
31326381 2019
42
Celastrol induce apoptosis of human multiple myeloma cells involving inhibition of proteasome activity. 38
30928629 2019
43
MTBVAC-Based TB-HIV Vaccine Is Safe, Elicits HIV-T Cell Responses, and Protects against Mycobacterium tuberculosis in Mice. 38
30859110 2019
44
Dilemmas With Rotavirus Vaccine: The Neonate and Immunocompromised. 38
31205244 2019
45
The first cohort of Iranian patients with hyper immunoglobulin E syndrome: A long-term follow-up and genetic analysis. 38
30801830 2019
46
Strimvelis® for Treating Severe Combined Immunodeficiency Caused by Adenosine Deaminase Deficiency: An Evidence Review Group Perspective of a NICE Highly Specialised Technology Evaluation. 38
30334168 2019
47
Increased splenic human CD4+:CD8+ T cell ratios, serum human interferon-γ and intestinal human interleukin-17 are associated with clinical graft-versus-host disease in humanized mice. 38
30743002 2019
48
Reference intervals for lymphocyte subsets in preterm and term neonates without immune defects. 38
31220471 2019
49
Reconstruction of the ovary microenvironment utilizing macroporous scaffold with affinity-bound growth factors. 38
30901634 2019
50
Safety and efficacy of ex vivo expanded CD34+ stem cells in murine and primate models. 38
31196160 2019

Variations for Combined T Cell and B Cell Immunodeficiency

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 KEGG:

37
# Name Kegg Source Accession
1 Primary immunodeficiency hsa05340

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

(show all 34)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 ZAP70 RAG2 RAG1 PRKDC PNP JAK3
2
Show member pathways
13.33 ZAP70 PRKDC JAK3 IL7 IL2RG IL2
3
Show member pathways
13.28 RAG2 RAG1 JAK3 IL7 IL2RG IL2
4 12.77 JAK3 IL7 IL2RG IL2 IL15
5
Show member pathways
12.72 ZAP70 RFXAP RFX5 IL2 IL15 CD8A
6
Show member pathways
12.7 JAK3 IL7 IL2RG IL2 IL15
7
Show member pathways
12.53 ZAP70 JAK3 IL2RG IL2 CD4
8
Show member pathways
12.49 ZAP70 IL2 CD8A CD4
9 12.38 ZAP70 RAG1 JAK3 IL2 DCLRE1C CD8A
10
Show member pathways
12.32 JAK3 IL7 IL2RG IL2 IL15
11
Show member pathways
12.31 ZAP70 IL2RG IL2 CD4
12 12.28 JAK3 IL2RG IL2 IL15
13
Show member pathways
12.02 IL7 IL2RG IL2 IL15 CD4
14
Show member pathways
11.99 JAK3 IL2RG IL2 CD4
15
Show member pathways
11.88 IL2RG IL2 CD8A CD4
16
Show member pathways
11.86 JAK3 IL2RG IL2
17
Show member pathways
11.86 ZAP70 CD8A CD4
18 11.8 IL7 CD8A CD4 CD34
19 11.8 IL7 IL2 IL15 CD8A CD4 CD34
20 11.78 JAK3 IL2 IL15
21 11.67 RAG2 CD4 CD34 ADA
22 11.65 ZAP70 CD8A CD4
23 11.63 IL2 CD8A CD4 CD34
24
Show member pathways
11.62 JAK3 IL2RG IL2
25
Show member pathways
11.57 IL2RG IL2 CD8A
26 11.54 IL7 IL2 IL15 CD8A CD4 CD34
27
Show member pathways
11.44 JAK3 IL7 IL2RG
28 11.37 JAK3 IL2RG IL2 CD4
29 11.24 ZAP70 IL2RG IL2
30 11.2 ZAP70 IL2 CD8A
31
Show member pathways
11.14 JAK3 IL2RG IL2
32 11.13 IL7 IL2 IL15 CD4
33 10.93 ZAP70 RFXAP RFX5 RAG2 RAG1 JAK3
34 10.8 RAG2 RAG1 JAK3 IL7 IL2RG

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:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.35 IL2RG CD8A CD4 CD34 ADA
2 nonhomologous end joining complex GO:0070419 9.16 PRKDC DCLRE1C
3 T cell receptor complex GO:0042101 8.8 ZAP70 CD8A CD4

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.99 JAK3 IL7 IL2RG IL2 CD4
2 adaptive immune response GO:0002250 9.97 ZAP70 RAG1 JAK3 IL2 DCLRE1C CD4
3 DNA recombination GO:0006310 9.87 RAG2 RAG1 PRKDC DCLRE1C
4 B cell differentiation GO:0030183 9.85 RAG2 RAG1 JAK3 DCLRE1C
5 positive regulation of B cell proliferation GO:0030890 9.78 IL7 IL2 ADA
6 T cell differentiation in thymus GO:0033077 9.76 RAG2 RAG1 PRKDC
7 T cell activation GO:0042110 9.76 ZAP70 CD8A CD4 ADA
8 interleukin-7-mediated signaling pathway GO:0038111 9.75 JAK3 IL7 IL2RG
9 positive regulation of calcium-mediated signaling GO:0050850 9.73 ZAP70 CD4 ADA
10 positive regulation of T cell proliferation GO:0042102 9.72 PNP JAK3 IL2 IL15 CD4
11 T cell differentiation GO:0030217 9.71 ZAP70 RAG2 IL2 CD4
12 regulation of T cell differentiation GO:0045580 9.7 RAG1 IL15 ADA
13 interleukin-2-mediated signaling pathway GO:0038110 9.69 JAK3 IL2RG IL2
14 positive regulation of kinase activity GO:0033674 9.66 IL2 CD4
15 purine-containing compound salvage GO:0043101 9.66 PNP ADA
16 positive regulation of interleukin-17 production GO:0032740 9.65 IL2 IL15
17 positive regulation of organ growth GO:0046622 9.65 RAG2 IL7
18 tyrosine phosphorylation of STAT protein GO:0007260 9.65 JAK3 IL15
19 positive regulation of alpha-beta T cell differentiation GO:0046638 9.65 ZAP70 PNP ADA
20 negative regulation of T cell apoptotic process GO:0070233 9.64 RAG1 DOCK8
21 interleukin-9-mediated signaling pathway GO:0038113 9.64 JAK3 IL2RG
22 interleukin-21-mediated signaling pathway GO:0038114 9.63 JAK3 IL2RG
23 enzyme linked receptor protein signaling pathway GO:0007167 9.63 JAK3 CD4
24 positive regulation of tissue remodeling GO:0034105 9.62 IL2 IL15
25 interleukin-4-mediated signaling pathway GO:0035771 9.62 JAK3 IL2RG
26 B cell lineage commitment GO:0002326 9.61 RAG2 PRKDC
27 negative regulation of thymocyte apoptotic process GO:0070244 9.61 RAG1 JAK3 ADA
28 immune response GO:0006955 9.61 ZAP70 RAG1 PNP IL7 IL2RG IL2
29 pre-B cell allelic exclusion GO:0002331 9.6 RAG2 RAG1
30 interleukin-15-mediated signaling pathway GO:0035723 9.56 JAK3 IL2RG IL15 CD4
31 T cell lineage commitment GO:0002360 9.54 RAG2 PRKDC IL7
32 V(D)J recombination GO:0033151 9.46 RAG2 RAG1 PRKDC DCLRE1C
33 positive regulation of T cell differentiation GO:0045582 9.02 ZAP70 RAG1 IL7 IL2 ADA
34 immune system process GO:0002376 10.08 ZAP70 PRKDC JAK3 IL2 DCLRE1C CD8A

Sources for Combined T Cell and B Cell Immunodeficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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