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 36 29 6
Syndrome with Combined Immunodeficiency 58
Congenital Combined Immunodeficiency 12


Orphanet: 58  
Rare immunological diseases

External Ids:

Disease Ontology 12 DOID:628
KEGG 36 H00093
ICD9CM 34 279.2
NCIt 49 C27871
ICD10 32 D81 D81.9
Orphanet 58 ORPHA331217
UMLS 71 C0494261

Summaries for Combined T Cell and B Cell Immunodeficiency

KEGG : 36 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 t-b- severe combined immunodeficiency. An important gene associated with Combined T Cell and B Cell Immunodeficiency is ICOSLG (Inducible T Cell Costimulator Ligand), 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 Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 831)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 35.4 RAG2 RAG1 JAK3
2 t-b- severe combined immunodeficiency 35.2 RAG2 JAK3 DCLRE1C
3 severe combined immunodeficiency with sensitivity to ionizing radiation 35.1 RAG2 RAG1 PRKDC NHEJ1 H2AC18 DCLRE1C
4 severe combined immunodeficiency, x-linked 35.0 LMO2 JAK3 IL7 IL2RG IL2 CD34
5 jak3-deficient severe combined immunodeficiency 34.8 JAK3 IL2
6 adenosine deaminase deficiency 34.4 RAG2 RAG1 LMO2 JAK3 IL2RG CD34
7 reticular dysgenesis 34.3 RAG1 NHEJ1 JAK3 IL2RG DCLRE1C ADA
8 immunodeficiency 18 34.2 PTPRC CD8A CD4
9 immunodeficiency 19 34.1 JAK3 CD8A CD4 ADA
10 immunodeficiency 17 34.0 DOCK8 CD8A
11 bare lymphocyte syndrome, type ii 34.0 RAG2 RAG1 NHEJ1 JAK3 IL2RG H2AC18
12 combined cellular and humoral immune defects with granulomas 33.7 RAG2 RAG1
13 omenn syndrome 33.4 RAG2 RAG1 PRKDC NHEJ1 JAK3 IL7
14 purine nucleoside phosphorylase deficiency 33.2 RAG1 NHEJ1 ADA
15 lig4 syndrome 33.0 RAG2 RAG1 PRKDC NHEJ1 DCLRE1C
16 chronic mucocutaneous candidiasis 33.0 DOCK8 CD8A CD4 CCR6
17 cd3zeta deficiency 32.7 CD8A CD4
18 recombinase activating gene 1 deficiency 32.5 RAG2 RAG1 PRKDC NHEJ1
19 immune deficiency disease 32.3 RAG2 RAG1 PTPRC JAK3 IRF4 IL7
20 severe combined immunodeficiency 31.6 RAG2 RAG1 PTPRC PRKDC NHEJ1 LMO2
21 lymphopenia 31.5 RAG1 JAK3 IL7 IL2RG IL2 ICOSLG
22 oral candidiasis 31.0 CD8A CD4 CCR6
23 bacterial infectious disease 31.0 ICOSLG H2AC18 CD8A CD4 CCR6
24 exanthem 31.0 IL2 ICOSLG H2AC18 CD8A CD4 CCR6
25 adult t-cell leukemia 30.9 JAK3 IRF4 IL2 CD4 CCR6
26 t-cell leukemia 30.9 LMO2 JAK3 IRF4 IL2RG IL2 CD4
27 common variable immunodeficiency 30.9 RAG1 JAK3 IRF4 IL7 IL2 ICOSLG
28 pancytopenia 30.9 PTPRC IRF4 CD8A CD4 CD34
29 leprosy 3 30.8 IL2 CD8A CD4 CCR6
30 precursor t-cell acute lymphoblastic leukemia 30.8 LMO2 IL7 IL2RG CD34
31 acquired immunodeficiency syndrome 30.8 IL2 CD4 CD34 CCR6 ADA
32 chickenpox 30.8 IL2 ICOSLG DOCK8 CD8A CD4 CCR6
33 pneumocystosis 30.8 CD8A CD4 CCR6
34 cryptococcosis 30.7 CD8A CD4 CCR6
35 lymphadenitis 30.7 ICOSLG CD4 CCR6
36 allergic hypersensitivity disease 30.7 IL2 ICOSLG H2AC18 CD4 CCR6
37 nervous system disease 30.7 IRF4 ICOSLG H2AC18 CD4 CCR6
38 anemia, autoimmune hemolytic 30.6 IL2 ICOSLG DOCK8 CD8A CD4
39 chediak-higashi syndrome 30.6 ICOSLG H2AC18 CD8A CD4 CCR6
40 miliary tuberculosis 30.6 CD8A CD4 ADA
41 leukemia, acute lymphoblastic 30.6 RAG1 PTPRC LMO2 JAK3 IRF4 IL7
42 cd40 ligand deficiency 30.6 JAK3 IL2RG ICOSLG DOCK8 CD4
43 digeorge syndrome 30.6 RAG2 RAG1 IL7 IL2RG H2AC18 DOCK8
44 thrombocytopenic purpura, autoimmune 30.6 ICOSLG CD4 CCR6
45 immunoglobulin alpha deficiency 30.6 ICOSLG CD8A CD4 CCR6
46 central nervous system disease 30.6 ICOSLG H2AC18 CD4 CCR6
47 meningoencephalitis 30.6 CD8A CD4 CCR6
48 epidermodysplasia verruciformis 1 30.5 IL7 DOCK8 CD8A CD4 CCR6
49 plasmacytoma 30.5 PTPRC IRF4 IL2
50 anaplastic large cell lymphoma 30.5 PTPRC JAK3 IRF4 CD4

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 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.96 IL7 IRF4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.96 PTPRC
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.96 IRF4 PTPRC
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.96 DCLRE1C
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.96 IRF4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.96 PTPRC
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.96 IRF4
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.96 DCLRE1C
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.96 IL7
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.96 PTPRC
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.96 DCLRE1C
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.96 PTPRC
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.96 IL7
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.96 DCLRE1C IL7 IRF4 PTPRC
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.96 IL7
16 Reduced mammosphere formation GR00396-S 9.17 CCR6 CD34 DCLRE1C JAK3 LMO2 PRKDC

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

# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.31 ADA CD34 CD4 CD8A DCLRE1C DOCK8
2 hematopoietic system MP:0005397 10.21 ADA CCR6 CD34 CD4 CD8A DCLRE1C
3 endocrine/exocrine gland MP:0005379 10.13 ADA CD4 CD8A DCLRE1C IL2 IL2RG
4 immune system MP:0005387 10.11 ADA CCR6 CD34 CD4 CD8A DCLRE1C
5 digestive/alimentary MP:0005381 10.02 ADA CD4 IL2 IL2RG JAK3 PRKDC
6 liver/biliary system MP:0005370 9.5 ADA IL2 LMO2 PRKDC PTPRC RAG1
7 neoplasm MP:0002006 9.32 CD34 IL2 IL2RG IRF4 LMO2 NHEJ1

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 102)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Adenosine Approved, Investigational Phase 4 58-61-7 60961
2 Immunoglobulin G Phase 3
3 Rho(D) Immune Globulin Phase 3
4 Immunoglobulins, Intravenous Phase 3
5 gamma-Globulins Phase 3
6 Analgesics Phase 2, Phase 3
7 Anti-Arrhythmia Agents Phase 2, Phase 3
8 Neurotransmitter Agents Phase 2, Phase 3
9 Vasodilator Agents Phase 2, Phase 3
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
leucovorin Approved Phase 2 58-05-9 6006 143
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
Ezetimibe Approved Phase 2 163222-33-1 150311
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
Lenograstim Approved, Investigational Phase 2 135968-09-1
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
Busulfan Approved, Investigational Phase 2 55-98-1 2478
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
Phenylalanine Approved, Investigational, Nutraceutical Phase 2 63-91-2 6140
26 Folic Acid Antagonists Phase 2
27 Folate Phase 2
28 Vitamin B9 Phase 2
29 Antineoplastic Agents, Hormonal Phase 2
30 Vitamin B Complex Phase 2
31 Vitamins Phase 2
32 Trace Elements Phase 2
33 Micronutrients Phase 2
34 Hematinics Phase 2
35 Nutrients Phase 2
36 Antidotes Phase 2
37 Vidarabine Phosphate Phase 2
38 Interleukin-2 Phase 1, Phase 2
39 Analgesics, Non-Narcotic Phase 1, Phase 2
40 Antiviral Agents Phase 2
41 Anticholesteremic Agents Phase 2
42 Hypolipidemic Agents Phase 2
43 Lipid Regulating Agents Phase 2
44 Antineoplastic Agents, Immunological Phase 2
45 Immunosuppressive Agents Phase 1, Phase 2
46 Cyclosporins Phase 2
47 Plerixafor octahydrochloride Phase 2
48 Anti-Retroviral Agents Phase 2
49 Adjuvants, Immunologic Phase 2
50 Anti-HIV Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 85)
# 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 A Study of EZN-2279 (Polyethylene Glycol Recombinant Adenosine Deaminase [PEG-rADA]) Administered as a Weekly Intramuscular Injection in Patients With Adenosine Deaminase (ADA)-Deficient Combined Immunodeficiency Completed NCT01420627 Phase 3
4 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
5 A Single Arm, Open Label Clinical Study to Enable Process Validation of Commercial Grade Ex Vivo Hematopoietic Stem Cell Gene Therapy (OTL-101) in Subjects With Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency (ADA-SCID) Recruiting NCT04140539 Phase 2, Phase 3
6 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
7 Phase I Gene Therapy Protocol for Adenosine Deaminase Deficiency Completed NCT01279720 Phase 1, Phase 2
8 Treatment of ADA-SCID by Gene Therapy on Somatic Cells Completed NCT00599781 Phase 1, Phase 2
9 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
10 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
11 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID Completed NCT00598481 Phase 2
12 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
13 Mechanisms of Antifolate Efficacy in Arthritis Completed NCT00000395 Phase 2 Methotrexate
14 A Phase II Trial of Reduced Intensity Allogeneic Stem Cell Transplantation With Fludarabine, Melphalan and Low Dose Total Body Irradiation Completed NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
15 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
16 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
17 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
18 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
19 Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning Recruiting NCT03311503 Phase 1, Phase 2
20 A 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
21 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
22 A Phase I/II Feasibility Study of Gene Transfer for Artemis-Deficient Severe Combined Immunodeficiency (ART-SCID) Using a Self-Inactivating Lentiviral Vector (AProArt) to Transduce Autologous CD34 Hematopoietic Cells Recruiting NCT03538899 Phase 1, Phase 2 AProArt;Busulfan
23 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 Palifermin;Busulfan
24 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
25 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
26 Cryopreserved Lentivirus Gene Therapy for Adenosine Deaminase (ADA) Deficiency Recruiting NCT03765632 Phase 1, Phase 2 Lentiviral transduced CD34+ cells
27 Ezetimibe as a Safe and Efficacious Treatment for Chronic Hepatitis C Recruiting NCT02971033 Phase 2 20mg ezetimibe;Placebo;40mg ezetimibe
28 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
29 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
30 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
31 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
32 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
33 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
34 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
35 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
36 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
37 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
38 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
39 Hematopoietic Stem Cells Transplantation in Children With Combined Immunodeficiency (CID): Selective Depletion of Naive Cells From the Graft Terminated NCT02737384 Phase 2
40 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
41 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
42 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 Unknown status NCT01586455 Phase 1 Human Placental Derived Stem Cell
43 Transplantation of Highly Purified Haploidentical CD133 Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome Completed NCT00152100 Phase 1 Filgrastim, Alemtuzumab
44 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
45 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
46 Ex Vivo Retroviral Gene Transfer For Treatment of X-Linked Severe Combined Immunodeficiency (XSCID) Completed NCT00028236 Phase 1 Gene-Transduced Autologous CD34+ Stem Cells
47 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
48 Phase I/II Trial of Recombinant Interleukin-2 In Symptomatic Human Immunodeficiency Virus-Infected Children Completed NCT00000849 Phase 1 Aldesleukin
49 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
50 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

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:

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

Publications for Combined T Cell and B Cell Immunodeficiency

Articles related to Combined T Cell and B Cell Immunodeficiency:

(show top 50) (show all 5586)
# Title Authors PMID Year
Shell-vial Assay in Diagnosis of Disseminated BCG Infection in an Immunodeficient Child. 61
31876612 2020
Omenn Syndrome Identified by Newborn Screening. 61
32000930 2020
Generation of hematopoietic cells from mouse pluripotent stem cells in a 3D culture system of self-assembling peptide hydrogel. 61
31389001 2020
Nontuberculous mycobacterial infections in a Brazilian pediatric population: a seven-year survey. 61
32036778 2020
Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience. 61
32009323 2020
Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective. 61
31709473 2020
[Ichtyosiform erythroderma revealing a severe combined immunodeficiency]. 61
31973905 2020
Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review. 61
32035178 2020
Biallelic Form of a Known CD3E Mutation in a Patient with Severe Combined Immunodeficiency. 61
32016651 2020
Elucidation of the Effects of a Current X-SCID Therapy on Intestinal Lymphoid Organogenesis Using an In Vivo Animal Model. 61
32017983 2020
Human BCL10 Deficiency due to Homozygosity for a Rare Allele. 61
32008135 2020
Arctigenin inhibits prostate tumor growth in high-fat diet fed mice through dual actions on adipose tissue and tumor. 61
31996731 2020
Monocarboxylate transporter 1 blockade with AZD3965 inhibits lipid biosynthesis and increases tumour immune cell infiltration. 61
31937921 2020
The basic residues in the Orai1 channel inner pore promote opening of the outer hydrophobic gate. 61
31816637 2020
Foxn1 and Prkdc genes are important for testis function: evidence from nude and scid adult mice. 61
31950264 2020
Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome. 61
31600545 2020
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation. 61
31448844 2020
SURF4 maintains stem-like properties via BIRC3 in ovarian cancer cells. 61
32026660 2020
X-Linked Hyper IgM Syndrome Presenting with Recurrent Tuberculosis-a Case Report. 61
31970544 2020
DOCK2 Sets the Threshold for Entry into the Virtual Memory CD8+ T Cell Compartment by Negatively Regulating Tonic TCR Triggering. 61
31740487 2020
Mutation Analysis of Three Infantile Cases of X-linked Severe Combined Immunodeficiency. 61
32013372 2020
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers. 61
31709449 2020
Severe combined immunodeficiency caused by Inositol-trisphosphate 3-Kinase B (ITPKB) deficiency. 61
31987846 2020
The panorama in diagnoses of severe combined immunodeficiency begins to change in Brazil. 61
31955817 2020
iPSC-Based Modeling of RAG2 Severe Combined Immunodeficiency Reveals Multiple T Cell Developmental Arrests. 61
31956083 2020
Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1. 61
31629014 2020
Retrospective Analysis of a New York Newborn Screen Severe Combined Immunodeficiency Referral Center. 61
31997108 2020
Primary immunodeficiency diseases and Bacillus Calmette-Guérin (BCG)-vaccine-derived complications: a systematic review. 61
32006723 2020
Establishment and Characterisation by Expression Microarray of Patient-Derived Xenograft Panel of Human Pancreatic Adenocarcinoma Patients. 61
32024004 2020
Refining the dermatological spectrum in primary immunodeficiency: mucosa-associated lymphoid tissue lymphoma translocation protein 1 deficiency mimicking Netherton/Omenn syndromes. 61
31049936 2020
Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia. 61
31903518 2020
A novel NFKBIA variant substituting serine 36 of IκBα causes immunodeficiency with warts, bronchiectasis and juvenile rheumatoid arthritis in the absence of ectodermal dysplasia. 61
31683054 2020
Rescue from Stx2-Producing E. coli-Associated Encephalopathy by Intravenous Injection of Muse Cells in NOD-SCID Mice. 61
31607541 2020
Improved transplant survival and long-term disease outcome in children with MHC class II deficiency. 61
31932845 2020
Increased activation of PI3 kinase-δ predisposes to B cell lymphoma. 61
31942637 2020
DOCK family proteins: key players in immune surveillance mechanisms. 61
31630188 2020
A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency. 61
31919089 2020
Inhibitory Effects of Glucosylceramide on Tumorigenesis Induced by a Carcinogen in Mice. 61
31808958 2019
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31838659 2019
Natural Flavonol, Myricetin, Enhances the Function and Survival of Cryopreserved Hepatocytes In Vitro and In Vivo. 61
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Reference intervals for lymphocyte subsets in preterm and term neonates without immune defects. 61
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Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain). 61
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Loss of ARPC1B impairs cytotoxic T lymphocyte maintenance and cytolytic activity. 61
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Genetic mutations and immunological features of severe combined immunodeficiency patients in Iran. 61
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Acute kidney injury in an infant with severe combined immunodeficiency: Questions. 61
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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:

# 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 27)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
Show member pathways
12.5 JAK3 IRF4 IL2RG IL2 CD4
Show member pathways
7 12.26 JAK3 IL2RG IL2 CD4
Show member pathways
12.26 JAK3 IL7 IL2RG IL2
Show member pathways
11.97 JAK3 IL2RG IL2 CD4
11 11.91 PTPRC IL7 IL2 CD8A CD4 CD34
Show member pathways
11.89 IL2RG IL2 CD8A CD4
13 11.81 IL7 CD8A CD4 CD34
Show member pathways
11.78 JAK3 IRF4 IL2RG
15 11.67 RAG2 CD4 CD34 ADA
Show member pathways
11.62 JAK3 IL2RG IL2
17 11.59 JAK3 IRF4 IL2RG
Show member pathways
11.57 IL2RG IL2 CD8A
19 11.5 PTPRC CD4 CD34
20 11.5 PTPRC IRF4 IL2 CD8A CD4 CD34
21 11.46 PTPRC IRF4 IL7 IL2 CD8A CD4
Show member pathways
11.42 JAK3 IL7 IL2RG
23 11.37 JAK3 IL2RG IL2 CD4
24 11.16 IL7 IL2 CD4
Show member pathways
11.13 JAK3 IL2RG IL2
26 11.1 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 cell surface GO:0009986 9.73 PTPRC IL2RG CD4 CD34 CCR6 ADA
2 external side of plasma membrane GO:0009897 9.23 PTPRC IL2RG ICOSLG CD8A CD4 CD34
3 DNA recombinase complex GO:0097519 9.16 RAG2 RAG1
4 nonhomologous end joining complex GO:0070419 9.13 PRKDC NHEJ1 DCLRE1C

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 10.03 RAG1 JAK3 IL2 ICOSLG DCLRE1C CD4
2 immune response GO:0006955 10.02 RAG1 IL7 IL2RG IL2 CD8A CD4
3 immune system process GO:0002376 10.01 PRKDC JAK3 IRF4 IL2 ICOSLG DCLRE1C
4 cytokine-mediated signaling pathway GO:0019221 9.97 JAK3 IRF4 IL7 IL2RG IL2 CD4
5 DNA recombination GO:0006310 9.88 RAG2 RAG1 PRKDC DCLRE1C
6 positive regulation of T cell proliferation GO:0042102 9.84 PTPRC JAK3 IL2 CD4
7 double-strand break repair GO:0006302 9.81 PRKDC NHEJ1 DCLRE1C
8 double-strand break repair via nonhomologous end joining GO:0006303 9.81 PRKDC NHEJ1 DCLRE1C
9 response to ionizing radiation GO:0010212 9.79 PRKDC NHEJ1 DCLRE1C
10 T cell differentiation in thymus GO:0033077 9.77 RAG2 RAG1 PRKDC
11 interleukin-7-mediated signaling pathway GO:0038111 9.76 JAK3 IL7 IL2RG
12 positive regulation of B cell proliferation GO:0030890 9.76 PTPRC IL7 IL2 ADA
13 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.72 PTPRC IRF4 CD4
14 interleukin-15-mediated signaling pathway GO:0035723 9.7 JAK3 IL2RG CD4
15 interleukin-2-mediated signaling pathway GO:0038110 9.69 JAK3 IL2RG IL2
16 positive regulation of organ growth GO:0046622 9.66 RAG2 IL7
17 positive regulation of isotype switching to IgG isotypes GO:0048304 9.65 PTPRC IL2
18 regulation of JAK-STAT cascade GO:0046425 9.65 PTPRC JAK3
19 negative regulation of T cell apoptotic process GO:0070233 9.65 RAG1 DOCK8
20 T cell differentiation GO:0030217 9.65 RAG2 PTPRC NHEJ1 IL2 CD4
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 B cell differentiation GO:0030183 9.63 RAG2 RAG1 PTPRC NHEJ1 JAK3 DCLRE1C
24 enzyme linked receptor protein signaling pathway GO:0007167 9.62 JAK3 CD4
25 B cell lineage commitment GO:0002326 9.62 RAG2 PRKDC
26 V(D)J recombination GO:0033151 9.62 RAG2 RAG1 PRKDC DCLRE1C
27 interleukin-4-mediated signaling pathway GO:0035771 9.61 JAK3 IL2RG
28 negative regulation of thymocyte apoptotic process GO:0070244 9.61 RAG1 JAK3 ADA
29 pre-B cell allelic exclusion GO:0002331 9.6 RAG2 RAG1
30 DN2 thymocyte differentiation GO:1904155 9.57 PTPRC CCR6
31 T cell lineage commitment GO:0002360 9.54 RAG2 PRKDC IL7
32 positive regulation of T cell differentiation GO:0045582 9.35 RAG1 PTPRC IL7 IL2 ADA
33 T cell activation GO:0042110 9.1 PTPRC IRF4 ICOSLG CD8A CD4 ADA

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 RAG2 RAG1 PTPRC PRKDC NHEJ1 LMO2

Sources for Combined T Cell and B Cell Immunodeficiency

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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