MCID: TCL003
MIFTS: 46

T Cell Deficiency

Categories: Immune diseases

Aliases & Classifications for T Cell Deficiency

MalaCards integrated aliases for T Cell Deficiency:

Name: T Cell Deficiency 12 15
T Lymphocyte Immunodeficiency 12
T-Lymphocyte Deficiency 74
T Cell Immunodeficiency 12
T Lymphocyte Deficiency 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11200

Summaries for T Cell Deficiency

Disease Ontology : 12 A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells.

MalaCards based summary : T Cell Deficiency, also known as t lymphocyte immunodeficiency, is related to immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia and immune defect due to absence of thymus. An important gene associated with T Cell Deficiency is CD247 (CD247 Molecule), and among its related pathways/superpathways are Allograft rejection and Immune response NFAT in immune response. The drugs Fludarabine and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and thymus, and related phenotypes are cellular and hematopoietic system

Wikipedia : 77 T cell deficiency is a deficiency of T cells, caused by decreased function of individual T cells, it... more...

Related Diseases for T Cell Deficiency

Diseases related to T Cell Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 144)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia 31.6 LRBA MAGT1
2 immune defect due to absence of thymus 31.1 FOXN1 IL2 SMARCAL1 ZAP70
3 combined t cell and b cell immunodeficiency 29.3 IL2 IL7R ZAP70
4 severe combined immunodeficiency 28.8 IL2 IL7R PTPRC ZAP70
5 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 12.8
6 t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations 12.6
7 t cell immunodeficiency primary 12.3
8 skeletal dysplasia-t-cell immunodeficiency-developmental delay syndrome 12.2
9 ectodermal dysplasia and immunodeficiency 2 12.1
10 epidermodysplasia verruciformis 4 11.5
11 purine nucleoside phosphorylase deficiency 11.4
12 digeorge syndrome 11.3
13 t-cell receptor-alpha/beta deficiency 11.3
14 schimke immunoosseous dysplasia 11.0
15 immunodeficiency due to defect in mapbp-interacting protein 11.0
16 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 10.2 IL7R PTPRC
17 cd45 deficiency 10.0 PTPRC ZAP70
18 hepatitis 9.9
19 common variable immunodeficiency 9.9
20 severe combined immunodeficiency, x-linked 9.8 IL2 IL7R
21 multiple sclerosis 9.8
22 systemic lupus erythematosus 9.8
23 anemia, autoimmune hemolytic 9.8
24 graft-versus-host disease 9.8
25 adult t-cell leukemia 9.8
26 arthritis 9.8
27 hematopoietic stem cell transplantation 9.8
28 hemolytic anemia 9.8
29 leukemia 9.8
30 glucose intolerance 9.8
31 pneumocystosis 9.8
32 pneumonia 9.8
33 t-cell leukemia 9.8
34 lupus erythematosus 9.8
35 toxoplasmosis 9.8
36 hyper ige syndrome 9.8
37 cartilage-hair hypoplasia 9.7
38 sudden infant death syndrome 9.7
39 thymoma, familial 9.7
40 marshall-smith syndrome 9.7
41 immunodeficiency 9 9.7
42 immunodeficiency 22 9.7
43 pure red-cell aplasia 9.7
44 dyskeratosis congenita 9.7
45 thymoma 9.7
46 purpura 9.7
47 lung lymphoma 9.7
48 mucormycosis 9.7
49 hypereosinophilic syndrome 9.7
50 lymphopenia 9.7 IL2 IL7R MAGT1

Graphical network of the top 20 diseases related to T Cell Deficiency:



Diseases related to T Cell Deficiency

Symptoms & Phenotypes for T Cell Deficiency

MGI Mouse Phenotypes related to T Cell Deficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 CD247 FOXN1 IL2 IL7R LAMTOR2 PTPRC
2 hematopoietic system MP:0005397 9.85 CD247 FOXN1 IL2 IL7R LRBA MAGT1
3 endocrine/exocrine gland MP:0005379 9.8 CD247 FOXN1 IL2 IL7R PTPRC RHOH
4 immune system MP:0005387 9.65 CD247 FOXN1 IL2 IL7R LRBA MAGT1
5 normal MP:0002873 9.1 CD247 FOXN1 IL7R MAGT1 PTPRC ZAP70

Drugs & Therapeutics for T Cell Deficiency

Drugs for T Cell Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 1, Phase 2,Phase 2 75607-67-9, 21679-14-1 30751
2
Busulfan Approved, Investigational Phase 1, Phase 2,Phase 2 55-98-1 2478
3
Vidarabine Approved, Investigational Phase 1, Phase 2 24356-66-9 21704 32326
4
Mycophenolic acid Approved Phase 2 24280-93-1 446541
5
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
6
Pentostatin Approved, Investigational Phase 2 53910-25-1 439693 40926
7
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 5284616 6436030
8
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643 439492
9
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
10
Mesna Approved, Investigational Phase 2 3375-50-6 598
11
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
12 Immunosuppressive Agents Phase 1, Phase 2,Phase 2
13 Antiviral Agents Phase 1, Phase 2
14 Alkylating Agents Phase 1, Phase 2
15 Antineoplastic Agents, Alkylating Phase 1, Phase 2
16 Antilymphocyte Serum Phase 1, Phase 2
17 Anti-Infective Agents Phase 1, Phase 2
18 Immunologic Factors Phase 1, Phase 2,Phase 2
19 Antimetabolites Phase 1, Phase 2,Phase 2
20 Antimetabolites, Antineoplastic Phase 1, Phase 2,Phase 2
21 Antineoplastic Agents, Immunological Phase 1, Phase 2
22 Antibodies Phase 1, Phase 2
23 Antibodies, Monoclonal Phase 1, Phase 2
24 Immunoglobulins Phase 1, Phase 2
25 Acidophilus Not Applicable
26 Antirheumatic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Pilot Trial of Allogeneic Blood or Marrow Transplantation for Primary Immunodeficiencies Recruiting NCT02579967 Phase 2 Immunosuppression Only Conditioning;Reduced Intensity Conditioning;Myeloablative Conditioning;GVHD Prophylaxis
3 Allogeneic Hematopoietic Cell Transplantation for Disorders of T-cell Proliferation and/or Dysregulation Recruiting NCT03663933 Phase 2 Immunosuppression Only Conditioning (IOC);Reduced Intensity Conditioning (RIC);GVHD Prophylaxis
4 Allogeneic SCT Of Pts With SCID And Other Primary Immunodeficiency Disorders Terminated NCT00579137 Phase 1, Phase 2 Fludarabine
5 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Active, not recruiting NCT02231710 Phase 1
6 Lactobacillus Plantarum as Therapy for NK-T Cell Deficiency Completed NCT00011141 Not Applicable Oral lactobacillus administration
7 Evaluation of HIV-Negative Patients With Low CD4+ T Lymphocyte Counts Completed NCT00001319
8 Developing Newborn Screening for Infants With Primary Immunodeficiency Completed NCT00113464
9 Breadth of Donor Options for People With Inherited Diseases Requiring Allogeneic Hematopoietic Stem Cell Transplant in the Era of Alternative Donor Transplants Using Post-Transplantation Cyclophosphamide Enrolling by invitation NCT03188419

Search NIH Clinical Center for T Cell Deficiency

Genetic Tests for T Cell Deficiency

Anatomical Context for T Cell Deficiency

MalaCards organs/tissues related to T Cell Deficiency:

42
T Cells, B Cells, Thymus, Skin, Thyroid, Bone Marrow, Neutrophil

Publications for T Cell Deficiency

Articles related to T Cell Deficiency:

(show top 50) (show all 125)
# Title Authors Year
1
21st Century FOX: Toward Gene Therapy for the Regulatory T Cell Deficiency Syndrome IPEX. ( 30735648 )
2019
2
Baboon envelope LVs efficiently transduced human adult, fetal, and progenitor T cells and corrected SCID-X1 T-cell deficiency. ( 30755435 )
2019
3
Regulatory T-cell deficiency leads to pathogenic bullous pemphigoid antigen 230 autoantibody and autoimmune bullous disease. ( 29704595 )
2018
4
Regulatory T-cell deficiency and autoimmune skin disease: Beyond the scurfy mouse and immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. ( 30196121 )
2018
5
Correction of T cell deficiency in ZAP-70 knock-out mice by simple intraperitoneal adoptive transfer of thymocytes. ( 29431868 )
2018
6
Tregopathies: Monogenic diseases resulting in regulatory T-cell deficiency. ( 30527062 )
2018
7
Tap water: A possible source of nontuberculous mycobacterial infection in patients with T cell deficiency. ( 30527279 )
2018
8
Expansion of cytotoxic CD56bright natural killer cells during T-cell deficiency after allogeneic hematopoietic stem cell transplantation. ( 28778795 )
2017
9
Roles of Aluminum Hydroxide and Monophosphoryl Lipid A Adjuvants in Overcoming CD4+ T Cell Deficiency To Induce Isotype-Switched IgG Antibody Responses and Protection by T-Dependent Influenza Vaccine. ( 27881702 )
2017
10
Both mucosal-associated invariant and natural killer T-cell deficiency in multiple myeloma can be countered by PD-1 inhibition. ( 28385777 )
2017
11
Mucosal-Associated Invariant T Cell Deficiency in Chronic Obstructive Pulmonary Disease. ( 26552490 )
2016
12
Peripheral invariant natural killer T cell deficiency in metabolically unhealthy but normal weight versus metabolically healthy but obese individuals. ( 28322093 )
2016
13
Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. ( 25468195 )
2015
14
Invariant natural killer T cell deficiency leads to the development of spontaneous liver inflammation dependent on γδT cells in mice. ( 25791517 )
2015
15
Hypomorphic interleukin-7 receptor α-chain mutations and T-cell deficiency: a delay in diagnosis. ( 26123418 )
2015
16
Invariant Natural Killer T Cell Deficiency and Functional Impairment in Sleep Apnea: Links to Cancer Comorbidity. ( 26414901 )
2015
17
T cell deficiency in spinal cord injury: altered locomotor recovery and whole-genome transcriptional analysis. ( 26546062 )
2015
18
Syndrome of selective IgM deficiency with severe T cell deficiency associated with disseminated cutaneous mycobacterium avium intracellulaire infection. ( 26550546 )
2015
19
Interleukin-7 signalling defects in naive CD4+ T cells of HIV patients with CD4+ T-cell deficiency on antiretroviral therapy are associated with T-cell activation and senescence. ( 24499954 )
2014
20
Attenuated adipose tissue and skeletal muscle inflammation in obese mice with combined CD4+ and CD8+ T cell deficiency. ( 24530773 )
2014
21
Blood dendritic cell levels associated with impaired IL-12 production and T-cell deficiency in patients with kidney disease: implications for post-transplant viral infections. ( 24963818 )
2014
22
Mucosal-associated invariant T cell deficiency in systemic lupus erythematosus. ( 25225673 )
2014
23
Combined B- and T-cell deficiency does not protect against obesity-induced glucose intolerance and inflammation. ( 23478176 )
2013
24
Vδ2 T cell deficiency in granulomatosis with polyangiitis (Wegener's granulomatosis). ( 23891739 )
2013
25
Regulatory T-cell deficiency in rheumatic heart disease: a preliminary observational study. ( 23610999 )
2013
26
The protective effects of T cell deficiency against brain injury are ischemic model-dependent in rats. ( 23228347 )
2013
27
Fine-tuning of regulatory T cell function: the role of calcium signals and naive regulatory T cells for regulatory T cell deficiency in multiple sclerosis. ( 23576680 )
2013
28
Impaired spatial memory in mice lacking CD3ζ is associated with altered NMDA and AMPA receptors signaling independent of T-cell deficiency. ( 24259588 )
2013
29
Natural killer T cell deficiency in active adult-onset Still's Disease: correlation of deficiency of natural killer T cells with dysfunction of natural killer cells. ( 22605480 )
2012
30
Enzyme replacement therapy partially prevents invariant Natural Killer T cell deficiency in the Fabry disease mouse model. ( 22425450 )
2012
31
CD8 T cell deficiency impairs control of Epstein--Barr virus and worsens with age in multiple sclerosis. ( 21791511 )
2012
32
CD8+ T-Cell Deficiency, Epstein-Barr Virus Infection, Vitamin D Deficiency, and Steps to Autoimmunity: A Unifying Hypothesis. ( 22312480 )
2012
33
IL-15 ex vivo overcomes CD4+ T cell deficiency for the induction of human antigen-specific CD8+ T cell responses. ( 21474552 )
2011
34
T cell deficiency does not reduce lesions in mice produced by intracerebral injection of NMO-IgG and complement. ( 21492943 )
2011
35
CD4+ T-cell deficiency in HIV patients responding to antiretroviral therapy is associated with increased expression of interferon-stimulated genes in CD4+ T cells. ( 22006994 )
2011
36
Can T-cell deficiency affect spatial learning ability following toluene exposure? ( 19923859 )
2010
37
Lung metastasis fails in MMTV-PyMT oncomice lacking S100A4 due to a T-cell deficiency in primary tumors. ( 20103644 )
2010
38
Profound invariant natural killer T-cell deficiency in inflammatory arthritis. ( 20444757 )
2010
39
Functional T-cell deficiency in adolescents who experience serogroup C meningococcal disease despite receiving the meningococcal serogroup C conjugate vaccine. ( 20463106 )
2010
40
Hematopoietic stem cell transplantation for profound T-cell deficiency (combined immunodeficiency). ( 20493397 )
2010
41
Consequences of increased CD45RA and RC isoforms for TCR signaling and peripheral T cell deficiency resulting from heterogeneous nuclear ribonucleoprotein L-like mutation. ( 20505149 )
2010
42
Skin inflammation arising from cutaneous regulatory T cell deficiency leads to impaired viral immune responses. ( 20548030 )
2010
43
Newborn screening for T-cell deficiency. ( 20864885 )
2010
44
Congenital T cell deficiency in a patient with CHARGE syndrome. ( 19187738 )
2009
45
Invariant natural killer (iNK) T cell deficiency in patients with common variable immunodeficiency. ( 19664144 )
2009
46
Common variable immunodeficiency with regulatory T-cell deficiency treated with rapamycin. ( 19230472 )
2009
47
The effects of T cell deficiency on the development of worms and granuloma formation in mice infected with Schistosoma japonicum. ( 18246371 )
2008
48
Immunological mechanisms and clinical implications of regulatory T cell deficiency in a systemic autoimmune disorder: roles of IL-2 versus IL-15. ( 18465774 )
2008
49
Generating functional CD8+ T cell memory response under transient CD4+ T cell deficiency: implications for vaccination of immunocompromised individuals. ( 18506880 )
2008
50
Reduced protection from simian immunodeficiency virus SIVmac251 infection afforded by memory CD8+ T cells induced by vaccination during CD4+ T-cell deficiency. ( 18667509 )
2008

Variations for T Cell Deficiency

Expression for T Cell Deficiency

Search GEO for disease gene expression data for T Cell Deficiency.

Pathways for T Cell Deficiency

Pathways related to T Cell Deficiency according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.63 CD247 IL2 PTPRC ZAP70
2
Show member pathways
12.32 CD247 IL2 PTPRC ZAP70
3
Show member pathways
12.11 CD247 PTPRC ZAP70
4
Show member pathways
11.99 CD247 IL2 PTPRC ZAP70
5
Show member pathways
11.85 CD247 IL2 ZAP70
6
Show member pathways
11.69 CD247 RHOH ZAP70
7 11.67 IL2 IL7R PTPRC
8 11.65 CD247 RHOH ZAP70
9
Show member pathways
11.64 CD247 IL2 PTPRC ZAP70
10
Show member pathways
11.62 CD247 PTPRC ZAP70
11 11.6 IL2 IL7R PTPRC
12
Show member pathways
11.58 CD247 PTPRC ZAP70
13 11.4 IL2 IL7R PTPRC
14 11.31 CD247 PTPRC ZAP70
15 11.3 CD247 ZAP70
16 11.3 IL2 IL7R PTPRC
17 11.09 IL2 ZAP70
18 11.06 IL2 ZAP70
19 10.99 CD247 IL2
20 10.93 CD247 IL2
21 10.37 IL7R PTPRC ZAP70

GO Terms for T Cell Deficiency

Cellular components related to T Cell Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immunological synapse GO:0001772 9.16 RHOH ZAP70
2 T cell receptor complex GO:0042101 8.96 CD247 ZAP70
3 oligosaccharyltransferase complex GO:0008250 8.62 MAGT1 STT3B

Biological processes related to T Cell Deficiency according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.7 CD247 IL7R PTPRC
2 T cell receptor signaling pathway GO:0050852 9.61 CD247 PTPRC ZAP70
3 T cell activation GO:0042110 9.51 PTPRC ZAP70
4 positive regulation of B cell proliferation GO:0030890 9.49 IL2 PTPRC
5 B cell proliferation GO:0042100 9.48 IL7R PTPRC
6 protein N-linked glycosylation via asparagine GO:0018279 9.46 MAGT1 STT3B
7 negative thymic T cell selection GO:0045060 9.4 PTPRC ZAP70
8 positive thymic T cell selection GO:0045059 9.37 PTPRC ZAP70
9 positive regulation of alpha-beta T cell proliferation GO:0046641 9.32 PTPRC ZAP70
10 positive regulation of isotype switching to IgG isotypes GO:0048304 9.26 IL2 PTPRC
11 negative regulation of T cell mediated cytotoxicity GO:0001915 9.16 IL7R PTPRC
12 positive regulation of T cell differentiation GO:0045582 9.13 IL2 PTPRC ZAP70
13 T cell differentiation GO:0030217 9.02 IL2 IL7R PTPRC RHOH ZAP70

Molecular functions related to T Cell Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dolichyl-diphosphooligosaccharide-protein glycotransferase activity GO:0004579 8.62 MAGT1 STT3B

Sources for T Cell Deficiency

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
Content
Loading form....