MCID: CMB003
MIFTS: 55

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 15
Combined Immunodeficiency 12 38 30 6
Congenital Combined Immunodeficiency 12

Classifications:



External Ids:

Disease Ontology 12 DOID:628
KEGG 38 H00093
ICD9CM 36 279.2
NCIt 51 C27871
ICD10 34 D81 D81.9
UMLS 74 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, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative and combined immunodeficiency, x-linked. 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 alemtuzumab 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

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 360)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 34.7 JAK3 RAG1 RAG2
2 combined immunodeficiency, x-linked 34.4 IL2RG ZAP70
3 severe combined immunodeficiency with sensitivity to ionizing radiation 34.2 DCLRE1C NHEJ1 PRKDC RAG1
4 severe combined immunodeficiency, x-linked 34.1 ADA IL2 IL2RG IL7 IL7R JAK3
5 jak3-deficient severe combined immunodeficiency 33.8 IL15 IL2 JAK3
6 adenosine deaminase deficiency 33.8 ADA IL2RG
7 omenn syndrome 33.3 ADA DCLRE1C IL2RG IL7R RAG1 RAG2
8 immunodeficiency 19 33.1 JAK3 ZAP70
9 combined cellular and humoral immune defects with granulomas 32.9 RAG1 RAG2
10 immunodeficiency with hyper-igm, type 3 32.4 CD40LG DOCK8 RAG1
11 recombinase activating gene 1 deficiency 32.0 RAG1 RAG2
12 lig4 syndrome 32.0 DCLRE1C NHEJ1 PRKDC RAG1 RAG2
13 interleukin-7 receptor alpha deficiency 31.6 IL2RG IL7 IL7R JAK3
14 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 30.6 CD40LG IL2 IL7R RAG1 RAG2
15 immune defect due to absence of thymus 30.4 IL2 ZAP70
16 lymphopenia 30.2 IL2 IL2RG IL7 IL7R RAG1
17 common variable immunodeficiency 29.8 ADA CD40LG IL2 RAG1
18 t cell deficiency 29.8 IL2 IL7R ZAP70
19 leukemia, chronic lymphocytic 29.4 CD40LG IL2 IL7 ZAP70
20 severe combined immunodeficiency 29.3 ADA DCLRE1C IL15 IL2 IL2RG IL7
21 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 12.7
22 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 12.6
23 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 12.6
24 achondroplasia and severe combined immunodeficiency 12.5
25 zap70-related severe combined immunodeficiency 12.5
26 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 12.4
27 combined immunodeficiency with skin granulomas 12.4
28 short-limb skeletal dysplasia with severe combined immunodeficiency 12.3
29 bare lymphocyte syndrome, type ii 12.3
30 combined immunodeficiency due to crac channel dysfunction 12.2
31 t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta 12.2
32 severe combined immunodeficiency due to ikk2 deficiency 12.2
33 reticular dysgenesis 12.2
34 severe combined immunodeficiency, atypical 12.2
35 combined immunodeficiency due to partial rag1 deficiency 12.1
36 zap70-related combined immunodeficiency 12.1
37 immunodeficiency 17 11.9
38 immunodeficiency 18 11.9
39 immunodeficiency 26 with or without neurologic abnormalities 11.8
40 zap-70 deficiency 11.8
41 immunodeficiency 21 11.8
42 immunodeficiency 16 11.7
43 immunodeficiency 49 11.7
44 immunodeficiency 52 11.7
45 hyper-ige recurrent infection syndrome 2, autosomal recessive 11.7
46 t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations 11.6
47 gastrointestinal defects and immunodeficiency syndrome 11.6
48 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia 11.6
49 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 11.6
50 immunodeficiency 9 11.6

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:

27
# 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:

47 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.39 ADA CD34 CD40LG DCLRE1C DOCK8 IL15
2 cellular MP:0005384 10.37 ADA CD34 CD40LG DCLRE1C DOCK8 IL2
3 immune system MP:0005387 10.36 ADA CD34 CD40LG DCLRE1C DOCK8 IL15
4 endocrine/exocrine gland MP:0005379 10.33 ADA CD40LG DCLRE1C IL15 IL2 IL2RG
5 cardiovascular system MP:0005385 10.16 ADA CD40LG DCLRE1C IL15 IL2 LMO2
6 digestive/alimentary MP:0005381 10.08 ADA IL2 IL2RG JAK3 PRKDC RAG1
7 mortality/aging MP:0010768 10.03 ADA CD40LG IL15 IL2 IL2RG JAK3
8 integument MP:0010771 9.97 CD34 CD40LG LMO2 PRKDC RAG1 RAG2
9 liver/biliary system MP:0005370 9.87 ADA IL2 LMO2 PRKDC RAG1 RAG2
10 neoplasm MP:0002006 9.85 CD34 IL2 IL2RG IL7R LMO2 NHEJ1
11 renal/urinary system MP:0005367 9.5 ADA CD40LG IL15 LMO2 PRKDC RAG1
12 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 95)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-61-7 60961
2
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 216503-57-0
3
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
4
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 55-98-1 2478
5
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 24356-66-9 21704 32326
6
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Not Applicable 6055-19-2, 50-18-0 2907
7 Antimetabolites Phase 2, Phase 3,Phase 1,Not Applicable
8 Alkylating Agents Phase 2, Phase 3,Phase 1,Not Applicable
9 Immunologic Factors Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
10 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable
11 Antirheumatic Agents Phase 2, Phase 3,Phase 1,Not Applicable
12 Anti-Infective Agents Phase 2, Phase 3,Phase 1,Not Applicable
13 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 1,Not Applicable
14 Antiviral Agents Phase 2, Phase 3,Phase 1,Not Applicable
15 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 1,Not Applicable
16 Rho(D) Immune Globulin Phase 3
17 Immunoglobulins, Intravenous Phase 3
18 gamma-Globulins Phase 3
19 Immunoglobulin G Phase 3
20 Immunoglobulins Phase 3,Phase 1,Phase 2
21 Antibodies Phase 3,Phase 1,Phase 2
22
Lenograstim Approved, Investigational Phase 2,Phase 1 135968-09-1
23
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
24
Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
25
Hydroxyurea Approved Phase 2 127-07-1 3657
26
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
27
leucovorin Approved Phase 2,Not Applicable 58-05-9 6006 143
28
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
29
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
30
Methotrexate Approved Phase 2,Not Applicable 1959-05-2, 59-05-2 126941
31
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1,Not Applicable 22916-47-8 4189
32
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
33
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2,Not Applicable 59-30-3 6037
34 Vasodilator Agents Phase 2,Phase 1,Not Applicable
35 Peripheral Nervous System Agents Phase 2,Phase 1,Not Applicable
36 Anti-Arrhythmia Agents Phase 2,Phase 1,Not Applicable
37 Analgesics Phase 2,Phase 1,Not Applicable
38 Neurotransmitter Agents Phase 2,Phase 1,Not Applicable
39 Antilymphocyte Serum Phase 1, Phase 2,Phase 2,Not Applicable
40 Antineoplastic Agents, Immunological Phase 2,Phase 1,Not Applicable
41 Thymoglobulin Phase 1, Phase 2,Phase 2
42 Nucleic Acid Synthesis Inhibitors Phase 2,Not Applicable
43 phenylalanine Phase 2
44 Vidarabine Phosphate Phase 2
45 Antibiotics, Antitubercular Phase 2,Phase 1
46 Folic Acid Antagonists Phase 2,Not Applicable
47 Anti-Bacterial Agents Phase 2,Phase 1
48 Folate Phase 2,Not Applicable
49 Antitubercular Agents Phase 2,Phase 1
50 Calcineurin Inhibitors Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 75)
# Name Status NCT ID Phase Drugs
1 Retroviral Insertion Site Methodology Study Not yet recruiting NCT03311074 Phase 4
2 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
3 Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients Completed NCT00220766 Phase 3 Immune Globulin Intravenous [Human], 10% Caprylate/Chromatography Purified;Dextrose, 5% in Water
4 EZN-2279 in Patients With ADA-SCID Active, not recruiting NCT01420627 Phase 3
5 Gene Therapy for X-linked Severe Combined Immunodeficiency Unknown status NCT01410019 Phase 1, Phase 2
6 MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID Completed NCT00794508 Phase 2
7 Autologous Transplant of EFS-ADA Modified Bone Marrow Cells for ADA-Deficient Severe Combined Immunodeficiency (SCID) Completed NCT01852071 Phase 1, Phase 2
8 Gene Therapy for ADA-SCID Completed NCT00599781 Phase 1, Phase 2
9 IMM 0212: Busulfan With Fludarabine and Antithymocyte Globulin as Preparative Therapy for Hematopoietic Stem Cell Transplant for the Treatment of Severe Congenital T-Cell Immunodeficiency Completed NCT00228852 Phase 1, Phase 2 Busulfan, Fludarabine and ATG
10 Gene Therapy ADA Deficiency Completed NCT01279720 Phase 1, Phase 2
11 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
12 Autologous Gene Therapy for Artemis-Deficient SCID Recruiting NCT03538899 Phase 1, Phase 2 AProArt;Busulfan
13 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
14 Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants Recruiting NCT01512888 Phase 1, Phase 2 Busulfan
15 Lentiviral Gene Transfer for Treatment of Children Older Than 2 Years of Age With X-Linked Severe Combined Immunodeficiency Recruiting NCT03315078 Phase 1, Phase 2 Palifermin;Busulfan
16 Gene Transfer for SCID-X1 Using a Self-inactivating Lentiviral Vector (TYF-IL-2Rg) Recruiting NCT03217617 Phase 1, Phase 2
17 Conditioning SCID Infants Diagnosed Early Recruiting NCT03619551 Phase 2 Busulfan
18 Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning Recruiting NCT03311503 Phase 1, Phase 2
19 Gene Therapy for Patients With ADA Adenosine Deaminase (ADA) Deficiency Recruiting NCT03765632 Phase 1, Phase 2 Lentiviral transduced CD34+ cells
20 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
21 Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
22 Alpha/Beta T and CD19+ Depleted Peripheral Stem Cells for Patients With Primary Immunodeficiencies Recruiting NCT02990819 Phase 2
23 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
24 Gene Transfer for Severe Combined Immunodeficiency, X-linked (SCID-X1) Using a Self-inactivating (SIN) Gammaretroviral Vector Active, not recruiting NCT01129544 Phase 1, Phase 2
25 Autologous Cryopreserved CD34+ Hematopoietic Cells Transduced With EFS-ADA Lentivirus for ADA SCID Active, not recruiting NCT02999984 Phase 1, Phase 2
26 Lentiviral Gene Therapy for Adenosine Deaminase (ADA) Deficiency Active, not recruiting NCT01380990 Phase 1, Phase 2
27 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID Active, not recruiting NCT00598481 Phase 2
28 Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies Active, not recruiting NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
29 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Enrolling by invitation NCT01852370 Phase 1, Phase 2
30 Haplocompatible Transplant Using TCRα/β Depletion Followed by CD45RA-Depleted Donor Lymphocyte Infusions for Severe Combined Immunodeficiency (SCID) Not yet recruiting NCT03597594 Phase 1, Phase 2 Anti-thymocyte globulin (rabbit);Busulfan;Fludarabine;Thiotepa
31 Safety and Efficacy Study of Human T Lymphoid Progenitor (HTLP) Injection After Partially HLA Compatible Allogeneic Hematopoietic Stem Cell Transplantation in SCID Patients Not yet recruiting NCT03879876 Phase 1, Phase 2
32 Treatment for Growth Failure in Patients With X-Linked Severe Combined Immunodeficiency: Phase 2 Study of Insulin-Like Growth Factor-1 Terminated NCT00490100 Phase 1, Phase 2 Increlex
33 SCID Bu/Flu/ATG Study With T Cell Depletion Terminated NCT02127892 Phase 1, Phase 2
34 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
35 Allogeneic SCT Of Pts With SCID And Other Primary Immunodeficiency Disorders Terminated NCT00579137 Phase 1, Phase 2 Fludarabine
36 Hematopoietic Stem Cells Transplantation in Children With Combined Immunodeficiency (CID) Terminated NCT02737384 Phase 2
37 Sirolimus Prophylaxis for aGVHD in TME SCID Withdrawn NCT02177760 Phase 2 Sirolimus
38 Transplantation of Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome Completed NCT00152100 Phase 1 Filgrastim, Alemtuzumab
39 Stem Cell Gene Therapy to Treat X-Linked Severe Combined Immunodeficiency (XSCID) Completed NCT00028236 Phase 1 Gene-Transduced Autologous CD34+ Stem Cells
40 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
41 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
42 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
43 Multivirus-specific Cytotoxic T Lymphocytes (mCTL) Active, not recruiting NCT02510404 Phase 1
44 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Active, not recruiting NCT02231710 Phase 1
45 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
46 Safety and Early Efficacy Study of TBX-1400 in Patients With Severe Combined Immunodeficiency Not yet recruiting NCT02860559 Phase 1
47 Lentiviral Gene Therapy for X-linked Severe Combined Immunodeficiency Not yet recruiting NCT03601286 Phase 1 Lentiviral vector transduced CD34+ cells
48 Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China Unknown status NCT02231983
49 Gene Therapy for X-linked Severe Combined Immunodeficiency (SCID-X1) Unknown status NCT01175239 Not Applicable
50 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

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 30

Anatomical Context for Combined T Cell and B Cell Immunodeficiency

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

42
T Cells, Bone, Bone Marrow, B Cells, Skin, Liver, Thymus

Publications for Combined T Cell and B Cell Immunodeficiency

Articles related to Combined T Cell and B Cell Immunodeficiency:

(show top 50) (show all 1591)
# Title Authors Year
1
Severe combined immunodeficiency (SCID) presenting in childhood, with agammaglobulinemia, associated with novel compound heterozygous mutations in DCLRE1C. ( 30630113 )
2019
2
Hematopoietic Stem Cell Transplantation Beyond Severe Combined Immunodeficiency: Seeking a Cure for Primary Immunodeficiency. ( 30832892 )
2019
3
Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1. ( 29778502 )
2019
4
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia. ( 30565242 )
2019
5
Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017. ( 30683812 )
2019
6
Lymphopenia and Severe Combined Immunodeficiency (SCID) - Think Before You Ink. ( 30879237 )
2019
7
Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned. ( 30466767 )
2019
8
Successful in utero stem cell transplantation in X-linked severe combined immunodeficiency. ( 30683657 )
2019
9
Persistent systemic rotavirus vaccine infection in a child with X-linked SCID. ( 30687932 )
2019
10
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India. ( 30778343 )
2019
11
Cost-effectiveness of newborn screening for severe combined immunodeficiency. ( 30805731 )
2019
12
Purine Nucleoside Phosphorylate Deficiency Severe Combined Immunodeficiency in an Infant: Subtle Diagnostic Clues. ( 30819998 )
2019
13
Rethinking newborn screening for severe combined immunodeficiency: Lessons from an international partnership for patients with primary immunodeficiencies in Pakistan. ( 30858051 )
2019
14
Low Exposure Busulfan Conditioning to Achieve Sufficient Multi-lineage Chimerism in Patients with Severe Combined Immunodeficiency. ( 30876930 )
2019
15
A Novel FOXN1 Variant Is Identified in Two Siblings with Nude Severe Combined Immunodeficiency. ( 30903456 )
2019
16
A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency. ( 30850927 )
2019
17
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. ( 30591564 )
2019
18
A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency. ( 30654050 )
2019
19
Iterative Excretion of Human Cosaviruses from Different Genotypes Associated with Combined Immunodeficiency Disorder. ( 30726837 )
2019
20
A combined immunodeficiency with severe infections, inflammation and allergy caused by ARPC1B deficiency. ( 30771411 )
2019
21
Preclinical Development of a Lentiviral Vector for Gene Therapy of X-Linked Severe Combined Immunodeficiency. ( 29707600 )
2018
22
T-Cell Receptor Excision Circles in HIV-Exposed, Uninfected Newborns Measured During a National Newborn Screening Program for Severe Combined Immunodeficiency. ( 29980289 )
2018
23
Antigen Loading (e.g., Glutamic Acid Decarboxylase 65) of Tolerogenic DCs (tolDCs) Reduces Their Capacity to Prevent Diabetes in the Non-Obese Diabetes (NOD)-Severe Combined Immunodeficiency Model of Adoptive Cotransfer of Diabetes As Well As in NOD Mice. ( 29503651 )
2018
24
Keeping it in the family: the case for considering late-onset combined immunodeficiency a subset of common variable immunodeficiency disorders. ( 29806948 )
2018
25
Bacterial and <i>Pneumocystis</i> Infections in the Lungs of Gene-Knockout Rabbits with Severe Combined Immunodeficiency. ( 29593714 )
2018
26
Antiviral T Cells for Adenovirus in the Pretransplant Period: A Bridge Therapy for Severe Combined Immunodeficiency. ( 29753156 )
2018
27
EBV-positive B-cell lymphoma manifestation of the liver in an infant with RAG1 severe combined immunodeficiency disease. ( 29856523 )
2018
28
Molecular diagnosis of severe combined immunodeficiency using whole-exome sequencing. ( 29937439 )
2018
29
Fatal P. jirovecii and Cytomegalovirus Infections in an Infant with Normal Trecs Count: Pitfalls of Newborn Screening for Severe Combined Immunodeficiency. ( 29613974 )
2018
30
BCGosis in Infants with Severe Combined ImmunoDeficiency (SCID). ( 29417456 )
2018
31
T<sup>+</sup> NK<sup>+</sup> IL-2 Receptor I^ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency. ( 29948574 )
2018
32
Diffuse large B-cell lymphoma chemotherapy reveals a combined immunodeficiency syndrome in cartilage hair hypoplasia. ( 29688570 )
2018
33
Severe Combined Immunodeficiency: A Case Series and Review from a Tertiary Pediatric Hospital. ( 29757593 )
2018
34
Severe combined immunodeficiency in Sting V154M/WT mice. ( 29800647 )
2018
35
Co-appearance of OPV and BCG vaccine-derived complications in two infants with severe combined immunodeficiency. ( 29804197 )
2018
36
X-Linked Severe Combined Immunodeficiency and Hepatoblastoma: A Case Report and Review of Literature. ( 29620683 )
2018
37
Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C. ( 28981982 )
2018
38
High Rates of Positive Severe Combined Immunodeficiency Screening Among Newborns with Severe Intestinal Failure. ( 29505141 )
2018
39
First Occurrence of Plasmablastic Lymphoma in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease Patient and Review of the Literature. ( 29456531 )
2018
40
A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing. ( 29551298 )
2018
41
Combined Immunodeficiency with Ring Chromosome 21. ( 29656336 )
2018
42
High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots. ( 29713328 )
2018
43
Good's Syndrome-Association of the Late Onset Combined Immunodeficiency with Thymoma: Review of Literature and Case Report. ( 29512373 )
2018
44
Newborn Screening for Severe Combined Immunodeficiency. ( 29749587 )
2018
45
A severe combined immunodeficiency disease mouse model of human adenocarcinoma with lepidic-predominant growth. ( 30287185 )
2018
46
Successful Treatment With Ledipasvir/Sofosbuvir in an Infant With Severe Combined Immunodeficiency Caused by Adenosine Deaminase Deficiency With HCV Allowed Gene Therapy with Strimvelis. ( 30014500 )
2018
47
Strimvelis® for Treating Severe Combined Immunodeficiency Caused by Adenosine Deaminase Deficiency: An Evidence Review Group Perspective of a NICE Highly Specialised Technology Evaluation. ( 30334168 )
2018
48
Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency. ( 29479355 )
2018
49
Late thymic deficiency after HLA-haploidentical hematopoietic stem cell transplantation for severe combined immunodeficiency. ( 30529243 )
2018
50
Hematopoietic Stem Cell Transplantation in Primary Immunodeficiencies Beyond Severe Combined Immunodeficiency. ( 30590619 )
2018

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:

38
# 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 31)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 CD34 CD40LG IL15 IL2 IL2RG IL7
2
Show member pathways
13.28 CD40LG IL15 IL2 IL2RG IL7 IL7R
3
Show member pathways
13.22 CD40LG IL15 IL2 IL2RG IL7 IL7R
4
Show member pathways
12.76 CD40LG IL15 IL2 RFX5 RFXAP ZAP70
5 12.73 IL15 IL2 IL2RG IL7 IL7R JAK3
6
Show member pathways
12.65 IL15 IL2 IL2RG IL7 IL7R JAK3
7
Show member pathways
12.49 IL2 IL2RG JAK3 ZAP70
8
Show member pathways
12.3 CD40LG IL2 IL2RG ZAP70
9
Show member pathways
12.28 IL15 IL2 IL2RG IL7 IL7R JAK3
10 12.27 IL15 IL2 IL2RG JAK3
11 12.21 CD34 CD40LG DCLRE1C IL2 JAK3 RAG1
12
Show member pathways
11.99 IL15 IL2 IL2RG IL7 IL7R
13
Show member pathways
11.94 IL2 IL2RG JAK3
14
Show member pathways
11.84 IL2 IL2RG JAK3
15 11.83 CD34 IL15 IL2 IL7 IL7R
16 11.8 CD34 IL7 IL7R
17 11.78 IL15 IL2 IL7R JAK3
18 11.69 ADA CD34 RAG2
19 11.66 CD34 IL2 IL7R
20
Show member pathways
11.61 IL2 IL2RG JAK3
21 11.57 CD40LG IL2RG JAK3
22 11.56 CD34 IL15 IL2 IL7 IL7R
23 11.48 CD34 CD40LG IL7R
24 11.41 IL2 IL2RG JAK3
25
Show member pathways
11.37 IL2RG IL7 IL7R JAK3
26 11.15 IL15 IL2 IL7
27 11.14 CD40LG IL2 IL2RG ZAP70
28
Show member pathways
11.13 IL2 IL2RG JAK3
29 11.12 CD40LG IL15 IL2 IL7
30 10.93 ADA CD40LG DCLRE1C IL2RG IL7R JAK3
31 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:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.35 ADA CD34 CD40LG IL2RG IL7R
2 nonhomologous end joining complex GO:0070419 8.8 DCLRE1C NHEJ1 PRKDC

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 9.97 DCLRE1C IL2 JAK3 RAG1 ZAP70
2 cytokine-mediated signaling pathway GO:0019221 9.96 IL2 IL2RG IL7 IL7R JAK3
3 immune response GO:0006955 9.92 CD40LG IL15 IL2 IL2RG IL7 IL7R
4 DNA recombination GO:0006310 9.84 DCLRE1C PRKDC RAG1 RAG2
5 positive regulation of T cell proliferation GO:0042102 9.81 CD40LG IL15 IL2 JAK3
6 double-strand break repair GO:0006302 9.8 DCLRE1C NHEJ1 PRKDC
7 double-strand break repair via nonhomologous end joining GO:0006303 9.8 DCLRE1C NHEJ1 PRKDC
8 response to ionizing radiation GO:0010212 9.78 DCLRE1C NHEJ1 PRKDC
9 positive regulation of B cell proliferation GO:0030890 9.76 ADA IL2 IL7
10 T cell differentiation in thymus GO:0033077 9.72 PRKDC RAG1 RAG2
11 interleukin-7-mediated signaling pathway GO:0038111 9.71 IL2RG IL7 IL7R JAK3
12 regulation of T cell differentiation GO:0045580 9.7 ADA IL15 RAG1
13 lymph node development GO:0048535 9.67 IL15 IL7R
14 positive regulation of calcium-mediated signaling GO:0050850 9.67 ADA ZAP70
15 interleukin-15-mediated signaling pathway GO:0035723 9.67 IL15 IL2RG JAK3
16 positive regulation of interleukin-17 production GO:0032740 9.65 IL15 IL2
17 positive regulation of organ growth GO:0046622 9.65 IL7 RAG2
18 positive regulation of alpha-beta T cell differentiation GO:0046638 9.65 ADA ZAP70
19 interleukin-2-mediated signaling pathway GO:0038110 9.65 IL2 IL2RG JAK3
20 T cell differentiation GO:0030217 9.65 IL2 IL7R NHEJ1 RAG2 ZAP70
21 positive regulation of T cell differentiation in thymus GO:0033089 9.64 ADA IL7R
22 interleukin-9-mediated signaling pathway GO:0038113 9.64 IL2RG JAK3
23 tyrosine phosphorylation of STAT protein GO:0007260 9.63 IL15 JAK3
24 negative regulation of T cell apoptotic process GO:0070233 9.63 DOCK8 IL7R RAG1
25 interleukin-21-mediated signaling pathway GO:0038114 9.62 IL2RG JAK3
26 positive regulation of tissue remodeling GO:0034105 9.61 IL15 IL2
27 negative regulation of thymocyte apoptotic process GO:0070244 9.61 ADA JAK3 RAG1
28 B cell lineage commitment GO:0002326 9.6 PRKDC RAG2
29 interleukin-4-mediated signaling pathway GO:0035771 9.59 IL2RG JAK3
30 pre-B cell allelic exclusion GO:0002331 9.58 RAG1 RAG2
31 T cell lineage commitment GO:0002360 9.54 IL7 PRKDC RAG2
32 V(D)J recombination GO:0033151 9.46 DCLRE1C PRKDC RAG1 RAG2
33 B cell differentiation GO:0030183 9.43 CD40LG DCLRE1C JAK3 NHEJ1 RAG1 RAG2
34 positive regulation of T cell differentiation GO:0045582 9.02 ADA IL2 IL7 RAG1 ZAP70
35 immune system process GO:0002376 10.06 DCLRE1C IL2 JAK3 PRKDC ZAP70
36 negative regulation of apoptotic process GO:0043066 10.06 ADA CD40LG IL2 IL7 PRKDC

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 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.33 IL2 IL2RG JAK3
2 cytokine activity GO:0005125 9.26 CD40LG IL15 IL2 IL7
3 interleukin-7 receptor activity GO:0004917 8.62 IL2RG IL7R
4 protein binding GO:0005515 10.16 ADA CD40LG DCLRE1C DOCK8 IL15 IL2

Sources for Combined T Cell and B Cell Immunodeficiency

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