MCID: CMB003
MIFTS: 49

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

Classifications:

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
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 congenital combined immunodeficiency, is related to severe combined immunodeficiency, x-linked and severe combined immunodeficiency with sensitivity to ionizing radiation. An important gene associated with Combined T Cell and B Cell Immunodeficiency is ZAP70 (Zeta Chain Of T Cell Receptor Associated Protein Kinase 70), and among its related pathways/superpathways are Primary immunodeficiency and Innate Immune System. The drugs Adenosine and Rho(D) Immune Globulin have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and bone, 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 779)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency, x-linked 35.9 JAK3 IL2RG CD34 ADA
2 severe combined immunodeficiency with sensitivity to ionizing radiation 35.8 RAG2 RAG1 H2AC18
3 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 35.8 RAG2 RAG1 JAK3
4 t-b- severe combined immunodeficiency 35.5 RAG2 JAK3
5 adenosine deaminase deficiency 35.3 RAG2 RAG1 JAK3 IL2RG CD4 CD34
6 omenn syndrome 35.3 ZAP70 RAG2 RAG1 JAK3 IL2RG ICOSLG
7 bare lymphocyte syndrome, type ii 35.2 ZAP70 RAG2 RAG1 JAK3 IL2RG CD4
8 reticular dysgenesis 35.0 RAG1 JAK3 IL2RG ADA
9 immune deficiency disease 34.4 ZAP70 STAT1 RAG2 RAG1 RAC2 MYH7
10 combined cellular and humoral immune defects with granulomas 34.3 RAG2 RAG1
11 immunodeficiency 19 34.3 ZAP70 ADA
12 severe combined immunodeficiency 34.1 ZAP70 RAG2 RAG1 RAC2 MYH7 JAK3
13 purine nucleoside phosphorylase deficiency 33.6 ZAP70 RAG1 ADA
14 leukocyte adhesion deficiency, type i 33.5 RAC2 FERMT3 CCR6
15 janus kinase-3 deficiency 33.0 RAG2 JAK3 IL2RG
16 recombinase activating gene 1 deficiency 32.9 RAG2 RAG1
17 lymphopenia 32.6 ZAP70 RAG1 RAC2 MYH7 JAK3 IL2RG
18 leukemia, acute lymphoblastic 32.0 ZAP70 RAG1 JAK3 IRF4 ICOSLG H2AC18
19 common variable immunodeficiency 31.9 ZAP70 RAG2 RAG1 RAC2 JAK3 IRF4
20 digeorge syndrome 31.8 RAG2 RAG1 IL2RG H2AC18 CD4 CD27
21 t-cell lymphoblastic leukemia/lymphoma 31.7 ZAP70 RAG2 RAG1 IRF4 CD4 CCR6
22 t cell deficiency 31.7 ZAP70 RAG1 IL2RG ICOSLG CD4 CD27
23 chickenpox 31.7 STAT1 CD4 CD27 CCR6 ADA
24 exanthem 31.7 ICOSLG H2AC18 CD4 CCR6
25 myeloma, multiple 31.6 STAT1 IRF4 ICOSLG H2AC18 CD4 CD34
26 adult t-cell leukemia 31.6 JAK3 IRF4 CD4 CCR6 BCL11B
27 bacterial infectious disease 31.6 ICOSLG H2AC18 CD4 CCR6
28 leukemia, chronic lymphocytic 31.5 ZAP70 STAT1 IRF4 ICOSLG H2AC18 CD4
29 autosomal recessive disease 31.5 IRF4 ICOSLG H2AC18 CCR6
30 oral candidiasis 31.4 STAT1 CD4 CCR6
31 t-cell acute lymphoblastic leukemia 31.4 STAT1 RAG1 JAK3 CD34 BCL11B
32 leukemia, acute myeloid 31.4 STAT1 JAK3 ICOSLG H2AC18 CD4 CD34
33 acquired immunodeficiency syndrome 31.4 CD4 CD34 CCR6 ADA
34 anemia, autoimmune hemolytic 31.3 ZAP70 ICOSLG CD4 CCR6
35 listeriosis 31.3 ICOSLG H2AC18 CD4 CCR6
36 sarcoidosis 1 31.3 STAT1 ICOSLG CD4 CD27 CCR6 ADA
37 respiratory failure 31.3 MYH7 H2AC18 CD4 CCR6
38 allergic hypersensitivity disease 31.3 ICOSLG H2AC18 CD4 CCR6
39 lymphoma, non-hodgkin, familial 31.3 RAG1 IRF4 ICOSLG H2AC18 CD4 CD34
40 nervous system disease 31.2 IRF4 ICOSLG H2AC18 CD4 CCR6
41 b cell deficiency 31.2 RAG2 RAG1 IRF4 ICOSLG CD4 CD27
42 chediak-higashi syndrome 31.2 ICOSLG H2AC18 CD4 CCR6
43 leukemia, chronic myeloid 31.2 STAT1 IRF4 H2AC18 CD34 ADA
44 progressive multifocal leukoencephalopathy 31.1 STAT1 RAG1 ICOSLG CD4 CCR6
45 bacterial pneumonia 31.1 ICOSLG H2AC18 CD4 CCR6 ADA
46 immunoglobulin alpha deficiency 31.1 ICOSLG CD4 CD27 CCR6
47 skin disease 31.0 ZAP70 ICOSLG H2AC18 CD4 CCR6
48 immunodeficiency with hyper-igm, type 1 31.0 RAG2 RAG1 ICOSLG H2AC18 CD4 CD27
49 mouth disease 31.0 STAT1 ICOSLG H2AC18 CCR6
50 cd40 ligand deficiency 31.0 ZAP70 JAK3 IL2RG ICOSLG CD4 CD27

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 BCL11B CCR6 CD27 CD34 JAK3 STAT1

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

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.33 ADA ARPC1B BCL11B CARMIL2 CCR6 CD27
2 cellular MP:0005384 10.29 ADA BCL11B CD27 CD34 CD4 IL2RG
3 immune system MP:0005387 10.25 ADA ARPC1B BCL11B CARMIL2 CCR6 CD27
4 homeostasis/metabolism MP:0005376 10.21 ADA ARPC1B BCL11B CCR6 CD34 CD4
5 cardiovascular system MP:0005385 10.19 ADA BCL11B CCR6 FERMT3 JAK3 MYH7
6 endocrine/exocrine gland MP:0005379 10.13 ADA BCL11B CARMIL2 CD4 IL2RG JAK3
7 digestive/alimentary MP:0005381 10.06 ADA CD4 FERMT3 IL2RG JAK3 RAG1
8 integument MP:0010771 9.96 ARPC1B BCL11B CARMIL2 CD34 CD4 FERMT3
9 neoplasm MP:0002006 9.7 BCL11B CD34 IL2RG IRF4 RAG1 RAG2
10 normal MP:0002873 9.61 ADA CCR6 CD4 IL2RG MYH7 RAG1
11 skeleton MP:0005390 9.28 ADA ARPC1B BCL11B FERMT3 IL2RG RAG1

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 92)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational Phase 4 58-61-7 60961
2 Rho(D) Immune Globulin Phase 3
3 Immunoglobulins, Intravenous Phase 3
4 gamma-Globulins Phase 3
5 Immunoglobulin G Phase 3
6
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
7
leucovorin Approved Phase 2 58-05-9 6006 143
8
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
9
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
10
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
11
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
12
Ezetimibe Approved Phase 2 163222-33-1 150311
13
Lenograstim Approved, Investigational Phase 2 135968-09-1
14
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
15
Busulfan Approved, Investigational Phase 2 55-98-1 2478
16
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
17
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
18
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
19
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
20
Phenylalanine Approved, Investigational, Nutraceutical Phase 2 63-91-2 6140
21 Vitamin B Complex Phase 2
22 Folic Acid Antagonists Phase 2
23 Folate Phase 2
24 Vitamin B9 Phase 2
25 Micronutrients Phase 2
26 Antidotes Phase 2
27 Vitamins Phase 2
28 Hematinics Phase 2
29 Nutrients Phase 2
30 Trace Elements Phase 2
31 Antimetabolites Phase 2
32 Lipid Regulating Agents Phase 2
33 Hypolipidemic Agents Phase 2
34 Anticholesteremic Agents Phase 2
35 Antineoplastic Agents, Immunological Phase 2
36 Cyclosporins Phase 2
37 Anti-HIV Agents Phase 2
38 Adjuvants, Immunologic Phase 2
39 Plerixafor octahydrochloride Phase 2
40 Antiviral Agents Phase 2
41 Anti-Retroviral Agents Phase 2
42 Thymoglobulin Phase 2
43 Antilymphocyte Serum Phase 2
44 Insulin, Globin Zinc Phase 1, Phase 2
45 Hormones Phase 1, Phase 2
46 Mitogens Phase 1, Phase 2
47 insulin Phase 1, Phase 2
48 Antibodies, Monoclonal Phase 1, Phase 2
49
Zidovudine Approved Phase 1 30516-87-1 35370
50
Aldesleukin Approved Phase 1 85898-30-2, 110942-02-4

Interventional clinical trials:

(show top 50) (show all 89)
# 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 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 Completed NCT02999984 Phase 1, Phase 2 busulfan;PEG-ADA ERT
10 Phase I/II, Historical 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 Completed NCT01380990 Phase 1, Phase 2 Busulfan;Peg-Ada
11 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
12 Autologous Transplantation of Bone Marrow CD34+ Stem/Progenitor Cells After Addition of a Normal Human ADA cDNA by the EFS-ADA Lentiviral Vector for Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency (ADA-SCID) Completed NCT01852071 Phase 1, Phase 2 busulfan;PEG-ADA ERT
13 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID Completed NCT00598481 Phase 2
14 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
15 Mechanisms of Antifolate Efficacy in Arthritis Completed NCT00000395 Phase 2 Methotrexate
16 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
17 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
18 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
19 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
20 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
21 Efficacy and Safety of a Cryopreserved Formulation of Autologous CD34+ Haematopoietic Stem Cells Transduced ex Vivo With Elongation Factor 1α Short Form (EFS) Lentiviral Vector Encoding for Human ADA Gene in Subjects With Severe Combined Immunodeficiency (SCID) Due to Adenosine Deaminase Deficiency Recruiting NCT03765632 Phase 1, Phase 2 Busulfan;Peg-Ada
22 Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning Recruiting NCT03311503 Phase 1, Phase 2
23 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 Recruiting NCT03879876 Phase 1, Phase 2
24 Haplocompatible Transplant Using TCRα/β Depletion Followed by CD45RA-Depleted Donor Lymphocyte Infusions for Severe Combined Immunodeficiency (SCID) Recruiting NCT03597594 Phase 1, Phase 2 Anti-thymocyte globulin (rabbit);Busulfan;Fludarabine;Thiotepa
25 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
26 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
27 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
28 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
29 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
30 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
31 Ezetimibe as a Safe and Efficacious Treatment for Chronic Hepatitis C Recruiting NCT02971033 Phase 2 20mg ezetimibe;Placebo;40mg ezetimibe
32 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
33 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
34 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
35 Matched Related and Unrelated Donor Stem Cell Transplantation for Severe Combined Immune Deficiency (SCID): Busulfan-based Conditioning With h-ATG, Radiation, and Sirolimus Enrolling by invitation NCT04370795 Phase 1, Phase 2 Sirolimus;Busulfan;Horse -Anti-thymocyte;G-CSF
36 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
37 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
38 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
39 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
40 Hematopoietic Stem Cells Transplantation in Children With Combined Immunodeficiency (CID): Selective Depletion of Naive Cells From the Graft Terminated NCT02737384 Phase 2
41 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
42 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
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 Treatment of EBV, CMV, and Adenovirus Infections in Primary Immunodeficiency Disorders With Viral-specific Cytotoxic T-Lymphocytes Completed NCT02510404 Phase 1
50 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

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 Congenital 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:

40
T Cells, B Cells, Bone, Bone Marrow, Nk Cells, Lung, Skin

Publications for Combined T Cell and B Cell Immunodeficiency

Articles related to Combined T Cell and B Cell Immunodeficiency:

# Title Authors PMID Year
1
Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988-2012). 61
26464197 2015
2
Cartilage-hair hypoplasia: follow-up of immunodeficiency in two patients. 61
24402619 2014
3
Current classification and status of primary immunodeficiency diseases in Taiwan. 61
18581721 2008
4
Cutaneous granulomas masquerading as tuberculoid leprosy in a patient with congenital combined immunodeficiency. 61
11514920 2001

Variations for Combined T Cell and B Cell Immunodeficiency

ClinVar genetic disease variations for Combined T Cell and B Cell Immunodeficiency:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CARMIL2 NM_001013838.3(CARMIL2):c.1590C>A (p.Asn530Lys)SNV Pathogenic 562177 rs1567629968 16:67682876-67682876 16:67648973-67648973
2 ARPC1B NC_000007.14:g.99369754_99378887deldeletion Pathogenic 827686 7:98967377-98976510
3 ZAP70 NM_001079.4(ZAP70):c.283C>T (p.Pro95Ser)SNV Pathogenic 827753 2:98340782-98340782 2:97724319-97724319
4 ARPC1B NM_005720.4(ARPC1B):c.739_743del (p.Leu247fs)deletion Pathogenic 827687 7:98988832-98988836 7:99391209-99391213
5 CD27 NM_001242.4(CD27):c.250dup (p.Cys84fs)duplication Pathogenic 827694 12:6554702-6554703 12:6445536-6445537
6 CD27 NM_001242.4(CD27):c.319C>T (p.Arg107Cys)SNV Pathogenic 827695 12:6559389-6559389 12:6450223-6450223
7 STAT1 NM_007315.3(STAT1):c.1154C>T (p.Thr385Met)SNV Pathogenic 144006 rs587777630 2:191851647-191851647 2:190986921-190986921
8 ZAP70 NM_001079.3(ZAP70):c.574C>T (p.Arg192Trp)SNV Pathogenic 222951 rs199840952 2:98349356-98349356 2:97732893-97732893
9 ZAP70 NM_001079.3(ZAP70):c.1079G>C (p.Arg360Pro)SNV Pathogenic 222950 rs869025224 2:98351172-98351172 2:97734709-97734709
10 BCL11B NM_138576.4(BCL11B):c.1323T>G (p.Asn441Lys)SNV Pathogenic 254673 rs750610248 14:99641850-99641850 14:99175513-99175513
11 RAC2 NM_002872.5(RAC2):c.184G>A (p.Glu62Lys)SNV Pathogenic/Likely pathogenic 464885 rs1555908409 22:37628882-37628882 22:37232842-37232842
12 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)SNV Pathogenic/Likely pathogenic 42901 rs3218716 14:23894525-23894525 14:23425316-23425316
13 MYOC NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)SNV Likely pathogenic 7949 rs74315329 1:171605478-171605478 1:171636338-171636338
14 PLAA NM_001031689.3(PLAA):c.1487-1G>ASNV Likely pathogenic 598964 rs1426488816 9:26913946-26913946 9:26913948-26913948
15 TFRC NM_001128148.3(TFRC):c.58T>C (p.Tyr20His)SNV Conflicting interpretations of pathogenicity 218163 rs863225436 3:195802210-195802210 3:196075339-196075339
16 CACNA1A NM_001127221.1(CACNA1A):c.6128C>T (p.Thr2043Met)SNV Uncertain significance 386521 rs563345694 19:13323262-13323262 19:13212448-13212448
17 SCNN1A NM_001038.6(SCNN1A):c.1427G>A (p.Arg476Gln)SNV Uncertain significance 598965 rs72657556 12:6458505-6458505 12:6349339-6349339
18 COL6A2 NM_001849.3(COL6A2):c.2008A>G (p.Thr670Ala)SNV Uncertain significance 598977 rs753298014 21:47545737-47545737 21:46125823-46125823
19 ADAR NM_001111.5(ADAR):c.1646C>A (p.Ala549Asp)SNV Uncertain significance 598987 rs1557882064 1:154571017-154571017 1:154598541-154598541

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:

36
# 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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 ZAP70 STAT1 RAG2 RAG1 JAK3 IRF4
2
Show member pathways
13.7 ZAP70 STAT1 RAC2 MYH7 JAK3 IL2RG
3
Show member pathways
13.26 ZAP70 STAT1 RAC2 JAK3 IL2RG CD4
4
Show member pathways
13.21 STAT1 RAG2 RAG1 JAK3 IRF4 IL2RG
5
Show member pathways
12.75 STAT1 RAC2 JAK3 CD4 CCR6
6
Show member pathways
12.72 STAT1 RAC2 MYH7 ICOSLG CD4
7
Show member pathways
12.27 ZAP70 STAT1 JAK3 IRF4 IL2RG CD4
8
Show member pathways
12.23 ZAP70 RAC2 IL2RG ICOSLG CD4
9 12.01 ZAP70 STAT1 RAG1 JAK3 IRF4 CD34
10
Show member pathways
11.96 STAT1 JAK3 IL2RG
11 11.84 STAT1 JAK3 IRF4 IL2RG
12
Show member pathways
11.74 JAK3 IRF4 IL2RG
13
Show member pathways
11.69 STAT1 JAK3 IL2RG CD4
14 11.61 IRF4 CD4 CD34
15 11.57 IRF4 CD4 CD34 CCR6
16 11.52 JAK3 IRF4 IL2RG
17 11.51 RAG2 CD4 CD34 ADA
18 11.38 JAK3 IL2RG CD4
19
Show member pathways
11.34 STAT1 JAK3 IL2RG
20 10.9 RAG2 RAG1 JAK3 IL2RG
21 10.75 ZAP70 RAG2 RAG1 JAK3 IL2RG CD4

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 9.63 IL2RG CD4 CD34 CD27 CCR6 ADA
2 external side of plasma membrane GO:0009897 9.17 IL2RG ICOSLG CD4 CD34 CD27 CCR6
3 DNA recombinase complex GO:0097519 8.96 RAG2 RAG1

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.99 ZAP70 RAG1 IL2RG CD4 CCR6
2 adaptive immune response GO:0002250 9.96 ZAP70 RAG1 JAK3 ICOSLG CD4
3 cytokine-mediated signaling pathway GO:0019221 9.85 STAT1 JAK3 IRF4 IL2RG CD4
4 B cell differentiation GO:0030183 9.76 RAG2 RAG1 JAK3
5 T cell differentiation GO:0030217 9.69 ZAP70 RAG2 CD4
6 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.61 IRF4 CD4
7 interleukin-2-mediated signaling pathway GO:0038110 9.61 JAK3 IL2RG
8 T cell differentiation in thymus GO:0033077 9.61 RAG2 RAG1 BCL11B
9 V(D)J recombination GO:0033151 9.6 RAG2 RAG1
10 positive regulation of alpha-beta T cell differentiation GO:0046638 9.58 ZAP70 ADA
11 positive regulation of calcium-mediated signaling GO:0050850 9.58 ZAP70 CD4 ADA
12 negative regulation of T cell apoptotic process GO:0070233 9.57 RAG1 CD27
13 T cell migration GO:0072678 9.55 ZAP70 CCR6
14 enzyme linked receptor protein signaling pathway GO:0007167 9.54 JAK3 CD4
15 interleukin-15-mediated signaling pathway GO:0035723 9.54 JAK3 IL2RG CD4
16 interleukin-4-mediated signaling pathway GO:0035771 9.52 JAK3 IL2RG
17 interleukin-9-mediated signaling pathway GO:0038113 9.5 STAT1 JAK3 IL2RG
18 regulation of cell-cell adhesion mediated by integrin GO:0033632 9.49 FERMT3 ADA
19 pre-B cell allelic exclusion GO:0002331 9.48 RAG2 RAG1
20 interleukin-21-mediated signaling pathway GO:0038114 9.43 STAT1 JAK3 IL2RG
21 negative regulation of thymocyte apoptotic process GO:0070244 9.33 RAG1 JAK3 ADA
22 positive regulation of T cell differentiation GO:0045582 9.26 ZAP70 RAG1 CD27 ADA
23 T cell activation GO:0042110 9.02 ZAP70 IRF4 ICOSLG CD4 ADA

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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