Combined Immunodeficiency

Categories: Blood diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Combined Immunodeficiency

MalaCards integrated aliases for Combined Immunodeficiency:

Name: Combined Immunodeficiency 11 11 28 5 14
Combined T Cell and B Cell Immunodeficiency 11 14
Combined T-Cell and B-Cell Immunodeficiency 33
Syndrome with Combined Immunodeficiency 58
Combined T and B Cell Immunodeficiency 33
Congenital Combined Immunodeficiency 11
Combined Immunodeficiency Syndrome 33
Lymphopenic Agammaglobulinaemia 33
Combined Immunity Deficiency 33


Orphanet: 58  
Rare immunological diseases

External Ids:

Disease Ontology 11 DOID:0111962 DOID:628
ICD9CM 34 279.2
NCIt 49 C27871
SNOMED-CT 68 442459007
ICD10 31 D81 D81.9
Orphanet 58 ORPHA331217
UMLS 71 C2711630

Summaries for Combined Immunodeficiency

Disease Ontology 11 Combined immunodeficiency: A primary immunodeficiency disease that involves multiple components of the immune system.

Combined t cell and b cell immunodeficiency: A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity.

MalaCards based summary: Combined Immunodeficiency, also known as combined t cell and b cell immunodeficiency, is related to severe combined immunodeficiency and severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative. An important gene associated with Combined Immunodeficiency is ZAP70 (Zeta Chain Of T Cell Receptor Associated Protein Kinase 70), and among its related pathways/superpathways are ERK Signaling and Innate Immune System. The drugs Immunoglobulins, Intravenous and Immunoglobulin G have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and t cells, and related phenotypes are Reduced mammosphere formation and immune system

Related Diseases for Combined Immunodeficiency

Diseases related to Combined Immunodeficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 720)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency 34.0 ZAP70 STAT1 RAG2 RAG1 RAC2 NHEJ1
2 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 33.9 RAG2 RAG1 JAK3 ADA
3 severe combined immunodeficiency with sensitivity to ionizing radiation 33.9 ZAP70 RAG2 RAG1 NHEJ1 JAK3 IL2RG
4 severe combined immunodeficiency, x-linked 33.9 JAK3 IL7R IL2RG ADA
5 bare lymphocyte syndrome, type ii 33.7 ZAP70 RAG2 RAG1 NHEJ1 JAK3 IL7R
6 adenosine deaminase deficiency 33.7 RAG2 RAG1 JAK3 IL2RG CD3D ADA
7 omenn syndrome 33.7 ZAP70 STAT1 RAG2 RAG1 NHEJ1 JAK3
8 reticular dysgenesis 33.5 RAG1 NHEJ1 JAK3 IL2RG DCLRE1C ADA
9 immunodeficiency 19 33.3 ZAP70 CD3D ADA
10 immunodeficiency 16 33.2 ICOSLG CD27 CARMIL2
11 immunodeficiency 11 32.9 MALT1 CARMIL2
12 immunodeficiency 17 32.9 ZAP70 CD3D
13 immunodeficiency 55 32.9 IL2RG ADA
14 immune deficiency disease 32.9 ZAP70 TFRC STAT1 RAG2 RAG1 RAC2
15 lig4 syndrome 32.7 RAG2 RAG1 NHEJ1 DCLRE1C
16 purine nucleoside phosphorylase deficiency 32.6 ZAP70 RAG2 RAG1 NHEJ1 JAK3 IL2RG
17 cd3zeta deficiency 32.3 RAG1 CD3D ARPC1B
18 immunodeficiency 41 with lymphoproliferation and autoimmunity 32.3 STAT1 IL7R IL2RG
19 recombinase activating gene 1 deficiency 32.3 RAG2 RAG1
20 janus kinase-3 deficiency 32.3 RAG2 JAK3
21 immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia 32.2 CARMIL2 ARPC1B
22 lymphopenia 32.1 RAG1 RAC2 IL7R IL2RG ADA
23 combined t and b cell immunodeficiency 31.6 ZAP70 TFRC STAT1 RAC2 MALT1 ICOSLG
24 agammaglobulinemia 31.6 RAG1 IL2RG ICOSLG
25 t cell deficiency 31.6 ZAP70 RAG2 RAG1 IL7R IL2RG ICOSLG
26 common variable immunodeficiency 31.5 ZAP70 RAG2 RAG1 RAC2 JAK3 ICOSLG
27 leukemia, acute lymphoblastic 31.4 ZAP70 RAG1 JAK3 IL7R ICOSLG ADA
28 t-cell acute lymphoblastic leukemia 31.2 ZAP70 TFRC STAT1 RAG2 RAG1 ICOSLG
29 chickenpox 31.1 STAT1 CD27 ADA
30 anemia, autoimmune hemolytic 31.0 ZAP70 RAG1 ICOSLG CD27
31 b cell deficiency 31.0 STAT1 RAG2 RAG1 ICOSLG CD27
32 immunodeficiency with hyper-igm, type 1 30.9 RAG2 RAG1 ICOSLG CD27
33 leukemia, chronic lymphocytic 30.8 ZAP70 TFRC STAT1 ICOSLG CD27 ADA
34 myeloma, multiple 30.8 TFRC STAT1 IL7R ICOSLG CD27
35 chronic granulomatous disease 30.8 STAT1 RAG1 RAC2 JAK3 IL2RG ADA
36 sarcoidosis 1 30.7 STAT1 ICOSLG CD27 ADA
37 cd40 ligand deficiency 30.7 ZAP70 STAT1 IL2RG ICOSLG DCLRE1C CD27
38 chronic mucocutaneous candidiasis 30.6 STAT1 MALT1 ICOSLG
39 immunoglobulin alpha deficiency 30.6 RAG1 ICOSLG CD27
40 lymphoma, non-hodgkin, familial 30.5 TFRC RAG1 MALT1 ICOSLG CD27
41 hyper ige syndrome 30.5 STAT1 JAK3 ICOSLG
42 skin disease 30.5 ZAP70 STAT1 JAK3 IL7R ICOSLG
43 systemic lupus erythematosus 30.4 ZAP70 TFRC STAT1 RAG2 RAG1 ICOSLG
44 human immunodeficiency virus infectious disease 30.4 STAT1 IL7R IL2RG ICOSLG ADA
45 lymphoma, mucosa-associated lymphoid type 30.2 ZAP70 MALT1 ICOSLG
46 immunodeficiency 104 11.7
47 short-limb skeletal dysplasia with severe combined immunodeficiency 11.7
48 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 11.7
49 combined cellular and humoral immune defects with granulomas 11.7
50 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 11.6

Graphical network of the top 20 diseases related to Combined Immunodeficiency:

Diseases related to Combined Immunodeficiency

Symptoms & Phenotypes for Combined Immunodeficiency

GenomeRNAi Phenotypes related to Combined Immunodeficiency according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.23 BCL11B CD27 CD3D DCLRE1C JAK3 STAT1

MGI Mouse Phenotypes related to Combined Immunodeficiency:

# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 10.3 ADA ARPC1B BCL11B CARMIL2 CD27 CD3D
2 cellular MP:0005384 10.21 ADA BCL11B CD27 DCLRE1C IL2RG IL7R
3 endocrine/exocrine gland MP:0005379 10.18 ADA BCL11B CARMIL2 DCLRE1C IL2RG IL7R
4 normal MP:0002873 10.03 ADA IL2RG IL7R RAG1 RAG2 STAT1
5 neoplasm MP:0002006 10 BCL11B IL2RG IL7R NHEJ1 RAG1 RAG2
6 hematopoietic system MP:0005397 9.93 ADA ARPC1B BCL11B CARMIL2 CD27 CD3D
7 skeleton MP:0005390 9.81 ADA ARPC1B BCL11B IL2RG RAG1 RAG2
8 respiratory system MP:0005388 9.8 ADA IL2RG RAG1 RAG2 STAT1 TFRC
9 integument MP:0010771 9.28 ARPC1B BCL11B CARMIL2 MALT1 RAG1 RAG2

Drugs & Therapeutics for Combined Immunodeficiency

Drugs for Combined Immunodeficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins, Intravenous Phase 3
2 Immunoglobulin G Phase 3
3 gamma-Globulins Phase 3
4 Rho(D) Immune Globulin Phase 3
Mycophenolic acid Approved, Investigational Phase 2 24280-93-1 446541
Levoleucovorin Approved, Experimental, Investigational Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 4112 126941
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
Melphalan Approved Phase 2 148-82-3 4053 460612
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
Busulfan Approved, Investigational Phase 2 55-98-1 2478
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
Alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
Lenograstim Approved, Investigational Phase 2 135968-09-1
Fludarabine Approved Phase 1, Phase 2 75607-67-9, 21679-14-1 30751 657237
Plerixafor Approved Phase 2 110078-46-1 65015
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
D-Phenylalanine Approved, Experimental, Investigational, Nutraceutical Phase 2 63-91-2, 673-06-3 6140 71567
20 Calcineurin Inhibitors Phase 2
21 Antitubercular Agents Phase 2
22 Dermatologic Agents Phase 2
23 Folic Acid Antagonists Phase 2
24 Folate Phase 2
25 Vitamin B9 Phase 2
26 Vitamin B Complex Phase 2
27 Antilymphocyte Serum Phase 1, Phase 2
28 Thymoglobulin Phase 1, Phase 2
29 Alkylating Agents Phase 1, Phase 2
30 Antineoplastic Agents, Alkylating Phase 1, Phase 2
31 Cyclosporins Phase 2
32 Insulin, Globin Zinc Phase 1, Phase 2
Insulin Phase 1, Phase 2
34 Hormones Phase 1, Phase 2
35 Mitogens Phase 1, Phase 2
36 Antineoplastic Agents, Immunological Phase 1, Phase 2
37 Antiviral Agents Phase 2
38 Anti-Retroviral Agents Phase 2
39 Anti-HIV Agents Phase 2
40 Immunoglobulins Phase 1, Phase 2
41 Antibodies Phase 1, Phase 2
42 Antibodies, Monoclonal Phase 1, Phase 2
43 Adjuvants, Immunologic Phase 2
Zidovudine Approved Phase 1 30516-87-1 35370
45 Reverse Transcriptase Inhibitors Phase 1
Elapegademase Approved 1709806-75-6
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
Tannic acid Approved 1401-55-4 16129878 16129778
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
Vidarabine Approved, Investigational 24356-66-9 21704

Interventional clinical trials:

(show top 50) (show all 73)
# Name Status NCT ID Phase Drugs
1 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
2 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
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 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) Withdrawn NCT04140539 Phase 2, Phase 3
5 Lentiviral Gene Transfer for Treatment of Children Older Than 2 Years of Age With X-Linked Severe Combined Immunodeficiency Unknown status NCT03315078 Phase 1, Phase 2 Palifermin;Busulfan
6 Gene Transfer for X-linked Severe Combined Immunodeficiency (SCID-X1) Using a Self-inactivating Lentiviral Vector (TYF-IL-2Rg) Unknown status NCT03217617 Phase 1, Phase 2
7 Protocol No. 2 of Gene Therapy for X-linked Severe Combined Immunodeficiency (SCID-X1) Using a Self Retroviral Vector - SCID2 Completed NCT01410019 Phase 1, Phase 2
8 Efficacy and Safety of Cryopreserved Formulation of Autologous CD34+ Hematopoietic Stem Cells Transduced Ex Vivo With Elongation Factor 1 Alpha Shortened (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
9 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
10 Treatment of ADA-SCID by Gene Therapy on Somatic Cells Completed NCT00599781 Phase 1, Phase 2
11 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
12 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
13 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
14 Phase I Gene Therapy Protocol for Adenosine Deaminase Deficiency Completed NCT01279720 Phase 1, Phase 2
15 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
16 Autologous Transplantation of Bone Marrow CD34+ Stem/Progenitor Cells After Addition of a Normal Human ADA Complementary DNA (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
17 Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning Recruiting NCT03311503 Phase 1, Phase 2
18 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
19 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 Human T Lymphoid Progenitor (HTLP) injection
20 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
21 A Phase I/II Feasibility Study of Gene Transfer for Artemis-Deficient Severe Combined Immunodeficiency (ART-SCID) Using a Self-Inactivating Lentiviral Vector (AProArt) to Transduce Autologous CD34 Hematopoietic Cells Recruiting NCT03538899 Phase 1, Phase 2 AProArt;Busulfan
22 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
23 A Phase 1/2 Study to Evaluate the Safety, Tolerability, and Efficacy of JSP191 for Hematopoietic Cell Transplantation Conditioning to Achieve Engraftment and Immune Reconstitution in Subjects With SCID Recruiting NCT02963064 Phase 1, Phase 2
24 A Randomized Trial of Low Versus Moderate Exposure Busulfan for Infants With Severe Combined Immunodeficiency (SCID) Receiving TCRαβ+/CD19+ Depleted Transplantation: A Phase II Study by the Primary Immune Deficiency Treatment Consortium (PIDTC) and Pediatric Blood and Marrow Transplant Consortium (PBMTC) Recruiting NCT03619551 Phase 2 Busulfan
25 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 Active, not recruiting NCT03765632 Phase 1, Phase 2 Busulfan;Peg-Ada
26 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 Active, not recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
27 Multi-site Phase I/II Trial Evaluating the Treatment of SCID-X1 Patients With Retrovirus-mediated Gene Transfer Active, not recruiting NCT01129544 Phase 1, Phase 2
28 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
29 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
30 A Phase 1/2 Open Label Non Randomized Study, Multicentric, Single Arm Evaluating the Safety and Efficacy of Gene Therapy of the Severe Combined Immunodeficiency (SCID) Caused by Mutations in the Human DCLRE1C Gene (Artemis) by Transplantation of a Single Dose of Autologous CD34+ Cells Transduced ex Vivo With the G2ARTE Lentiviral Vector Expressing the DCLRE1C cDNA Not yet recruiting NCT05071222 Phase 1, Phase 2
31 Efficacy and Safety of Cryopreserved Autologous Mobilized Peripheral Blood CD34+ Hematopoietic Stem and Progenitor Cells Transduced Ex Vivo With the EFS-ADA Lentiviral Vector in Patients With Severe Combined Immune Deficiency Due To Adenosine Deaminase Deficiency Not yet recruiting NCT05432310 Phase 1, Phase 2
32 Lentiviral Gene Transfer for Treatment of Children Older Than 2 Years of Age With X-Linked Severe Combined Immunodeficiency Suspended NCT01306019 Phase 1, Phase 2 Palifermin;Busulfan
33 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
34 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
35 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
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 Hematopoietic Stem Cells Transplantation in Children With Combined Immunodeficiency (CID): Selective Depletion of Naive Cells From the Graft Terminated NCT02737384 Phase 2
38 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
39 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
40 Ex Vivo Retroviral Gene Transfer For Treatment of X-Linked Severe Combined Immunodeficiency (XSCID) Completed NCT00028236 Phase 1 Gene-Transduced Autologous CD34+ Stem Cells
41 Transplantation of Highly Purified Haploidentical CD133 Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome Completed NCT00152100 Phase 1 Filgrastim, Alemtuzumab
42 Treatment of SCID Due to ADA Deficiency With Autologous Cord Blood or Bone Marrow CD34+ Cells Transduced With a Human ADA Gene Completed NCT00018018 Phase 1 CD34+ cells transduced with ADA retrovir
43 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
44 Safety and Early Efficacy Study of TBX-1400 in Patients With Severe Combined Immunodeficiency Not yet recruiting NCT02860559 Phase 1
45 Gene Therapy for SCID-X1 Using a Self-inactivating (SIN) Gammaretroviral Vector Unknown status NCT01175239
46 Gene Transfer for Adenosine Deaminase-severe Combined Immunodeficiency (ADA-SCID) Using an Improved Self-inactivating Lentiviral Vector (TYF-ADA) Unknown status NCT03645460
47 Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China Unknown status NCT02231983
48 Newborn Screening for SCID in a High-Risk Population Completed NCT00845416
49 Study Through Imaging of Mediastinal and Abdominopelvic Secondary Lymphoid Organs (Lymph Nodes) in Patients With Severe Combined Immunodeficiencies (SCID) Who Have Recieved Bone Narrow Allograft Completed NCT04246840
50 Evaluation of the Clinical Utility and Cost Effectiveness Ratio of Generalized Neonatal Screening for Severe Combined Immunodeficiencies (SCID) by Quantification of TRECs on Guthrie Cards Completed NCT02244450

Search NIH Clinical Center for Combined Immunodeficiency

Genetic Tests for Combined Immunodeficiency

Genetic tests related to Combined Immunodeficiency:

# Genetic test Affiliating Genes
1 Combined Immunodeficiency 28

Anatomical Context for Combined Immunodeficiency

Organs/tissues related to Combined Immunodeficiency:

MalaCards : Bone Marrow, Bone, T Cells, B Cells, Lung, Myeloid, Liver

Publications for Combined Immunodeficiency

Articles related to Combined Immunodeficiency:

(show top 50) (show all 6211)
# Title Authors PMID Year
Loss of human ICOSL results in combined immunodeficiency. 62 5
30498080 2018
Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B. 62 5
27959755 2016
Newborn tandem mass spectroscopy screening for adenosine deaminase deficiency. 62
35914665 2022
JAK: Not Just Another Kinase. 62
36252553 2022
IL-7: Comprehensive review. 62
36201890 2022
Navigating diagnostic options for inborn errors of immunity in children: a case-based illustration. 62
36081368 2022
CARMIL2 Immunodeficiency with Epstein Barr Virus Associated Smooth Muscle Tumor (EBV-SMT). Report of a Case with Comprehensive Review of Literature. 62
34738861 2022
SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma. 62
36474126 2022
Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E. 62
36459342 2022
Transplantation of human cells into Interleukin-2 receptor gamma gene knockout pigs under several conditions. 62
35765545 2022
Transplantation to save the life, TSH screening to save the brain: A report and brief literature review of autoimmune thyroid disease after HSCT for severe combined immunodeficiency. 62
36182049 2022
A novel frameshift variant in TNFRSF13B in a Chinese patient with late-onset combined immunodeficiency. 62
36469306 2022
Natural history of infants with non-SCID T cell lymphopenia identified on newborn screen. 62
36368643 2022
Building connections between biomedical sciences and ethics for medical students. 62
36456922 2022
Chronic reduction of store operated Ca2+ entry is viable therapeutically but is associated with cardiovascular complications. 62
36181482 2022
Investigation of murine host sex as a biological variable in epithelial barrier function and muscle contractility in human intestinal organoids. 62
36250916 2022
Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study. 62
36324046 2022
Neutralization and receptor use of infectious culture-derived rat hepacivirus as a model for HCV. 62
35445423 2022
Individualized therapy based on the combination of mini-PDX and NGS for a patient with metastatic AFP-producing and HER-2 amplified gastric cancer. 62
36245818 2022
Extra-hematopoietic immunomodulatory role of the guanine-exchange factor DOCK2. 62
36380073 2022
NFκB pathway dysregulation due to reduced RelB expression leads to severe autoimmune disorders and declining immunity. 62
36402602 2022
A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation. 62
36378426 2022
The use of animal models in rheumatoid arthritis research. 62
36411592 2022
Inborn Errors of Immunity in Patients with Adverse Events Following BCG Vaccination in Brazil. 62
35907101 2022
Kinetics of immune responses elicited after three mRNA COVID-19 vaccine doses in predominantly antibody-deficient individuals. 62
36320330 2022
The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions. 62
36456360 2022
Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan. 62
36385359 2022
The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. 62
36456361 2022
Hematopoietic stem cell transplantation in serine/threonine kinase 4 (STK4) deficiency: Report of two cases and literature review. 62
36394186 2022
TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan. 62
35902420 2022
Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature. 62
35972040 2022
Gene therapy for inborn errors of immunity: past, present and future. 62
36434109 2022
Knockout of SLy1 decreases double-negative thymocyte proliferation and protects mice from p53-induced tumor formation. 62
36401605 2022
DNA replication-associated inborn errors of immunity. 62
36395985 2022
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients. 62
35947323 2022
The role of the CBM complex in allergic inflammation and disease. 62
35981904 2022
The role of bronchoscopy in eosinophilia and pulmonary involvement. 62
36413116 2022
Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant. 62
36410285 2022
EPG5-Related Disorder 62
36228046 2022
A Novel RAC2 Mutation Causing Combined Immunodeficiency. 62
36190591 2022
Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome. 62
35879406 2022
Haploidentical CD3+ TCR αβ/CD19+ depleted HSCT for MHC Class II deficiency and persistent SARS-CoV-2 pneumonitis. 62
36210925 2022
Physiologically-based pharmacokinetic modeling of immunoglobulin and antibody coadministration in patients with primary human immunodeficiency. 62
35860862 2022
Eczema herpeticum vs dermatitis herpetiformis as a clue of dedicator of cytokinesis 8 deficiency diagnosis: A case report. 62
36312485 2022
Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency. 62
36258138 2022
Uncommon histopathological features of cytomegalovirus encephalitis and measles inclusion body encephalitis on autopsy in two patients with primary immunodeficiency. 62
36278299 2022
Hematopoietic Stem Cell Transplantation in ARPC1B Deficiency. 62
35767111 2022
Clinical features of very early-onset inflammatory bowel disease in Japan: a retrospective single-center study. 62
35686293 2022
Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT. 62
36279417 2022
Parental coping with uncertainties along the severe combined immunodeficiency journey. 62
36303152 2022

Variations for Combined Immunodeficiency

ClinVar genetic disease variations for Combined Immunodeficiency:

5 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARPC1B NM_005720.4(ARPC1B):c.739_743del (p.Leu247fs) DEL Pathogenic
827687 rs760191638 GRCh37: 7:98988832-98988836
GRCh38: 7:99391209-99391213
2 overlap with 2 genes NC_000007.14:g.99369754_99378887del DEL Pathogenic
827686 GRCh37: 7:98967376-98976509
GRCh38: 7:99369753-99378886
3 CARMIL2 NM_001013838.3(CARMIL2):c.1590C>A (p.Asn530Lys) SNV Pathogenic
562177 rs1567629968 GRCh37: 16:67682876-67682876
GRCh38: 16:67648973-67648973
4 CARMIL2 NM_001013838.3(CARMIL2):c.871+1G>T SNV Pathogenic
266036 rs886041044 GRCh37: 16:67681506-67681506
GRCh38: 16:67647603-67647603
5 CARMIL2 NM_001013838.3(CARMIL2):c.490dup (p.Ala164fs) DUP Pathogenic
266035 rs886041043 GRCh37: 16:67680638-67680639
GRCh38: 16:67646735-67646736
6 BCL11B NM_138576.4(BCL11B):c.1323T>G (p.Asn441Lys) SNV Pathogenic
254673 rs750610248 GRCh37: 14:99641850-99641850
GRCh38: 14:99175513-99175513
7 MALT1 NM_006785.4(MALT1):c.1060del (p.Arg354fs) DEL Pathogenic
242616 rs786200954 GRCh37: 18:56390320-56390320
GRCh38: 18:58723088-58723088
8 CD27-AS1, CD27 NM_001242.5(CD27):c.250dup (p.Cys84fs) DUP Pathogenic
827694 rs1592117677 GRCh37: 12:6554702-6554703
GRCh38: 12:6445536-6445537
9 ZAP70 NM_001079.4(ZAP70):c.283C>T (p.Pro95Ser) SNV Pathogenic
827753 rs1573262398 GRCh37: 2:98340782-98340782
GRCh38: 2:97724319-97724319
10 CD27-AS1, CD27 NM_001242.5(CD27):c.319C>T (p.Arg107Cys) SNV Pathogenic
827695 rs371761387 GRCh37: 12:6559389-6559389
GRCh38: 12:6450223-6450223
11 TFRC NM_001128148.3(TFRC):c.58T>C (p.Tyr20His) SNV Pathogenic
218163 rs863225436 GRCh37: 3:195802210-195802210
GRCh38: 3:196075339-196075339
12 STAT1 NM_007315.4(STAT1):c.1154C>T (p.Thr385Met) SNV Pathogenic
144006 rs587777630 GRCh37: 2:191851647-191851647
GRCh38: 2:190986921-190986921
13 ZAP70 NM_001079.4(ZAP70):c.574C>T (p.Arg192Trp) SNV Pathogenic
222951 rs199840952 GRCh37: 2:98349356-98349356
GRCh38: 2:97732893-97732893
14 ZAP70 NM_001079.4(ZAP70):c.1079G>C (p.Arg360Pro) SNV Pathogenic
222950 rs869025224 GRCh37: 2:98351172-98351172
GRCh38: 2:97734709-97734709
15 RAC2 NM_002872.5(RAC2):c.184G>A (p.Glu62Lys) SNV Likely Pathogenic
464885 rs1555908409 GRCh37: 22:37628882-37628882
GRCh38: 22:37232842-37232842
16 ICOSLG NM_015259.6(ICOSLG):c.499C>T (p.Pro167Ser) SNV Likely Pathogenic
1339546 GRCh37: 21:45655353-45655353
GRCh38: 21:44235470-44235470
17 PLAA NM_001031689.3(PLAA):c.1487-1G>A SNV Likely Pathogenic
598964 rs1426488816 GRCh37: 9:26913946-26913946
GRCh38: 9:26913948-26913948
18 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) SNV Likely Pathogenic
42901 rs3218716 GRCh37: 14:23894525-23894525
GRCh38: 14:23425316-23425316
19 MYOC NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) SNV Likely Pathogenic
7949 rs74315329 GRCh37: 1:171605478-171605478
GRCh38: 1:171636338-171636338
20 ADAR NM_001111.5(ADAR):c.1646C>A (p.Ala549Asp) SNV Uncertain Significance
598987 rs1557882064 GRCh37: 1:154571017-154571017
GRCh38: 1:154598541-154598541
21 COL6A2 NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala) SNV Uncertain Significance
598977 rs753298014 GRCh37: 21:47545737-47545737
GRCh38: 21:46125823-46125823
22 SCNN1A NM_001038.6(SCNN1A):c.1427G>A (p.Arg476Gln) SNV Uncertain Significance
598965 rs72657556 GRCh37: 12:6458505-6458505
GRCh38: 12:6349339-6349339
23 CACNA1A NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) SNV Uncertain Significance
386521 rs563345694 GRCh37: 19:13323262-13323262
GRCh38: 19:13212448-13212448

Expression for Combined Immunodeficiency

Search GEO for disease gene expression data for Combined Immunodeficiency.

Pathways for Combined Immunodeficiency

Pathways related to Combined Immunodeficiency according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
Show member pathways
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12.11 ZAP70 RAC2 MALT1 CD3D
Show member pathways
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11.84 STAT1 JAK3 IL2RG
Show member pathways
13 11.78 STAT1 JAK3 IL2RG
Show member pathways
11.68 STAT1 JAK3 IL2RG
15 11.54 ZAP70 STAT1 CD3D
16 11.37 STAT1 JAK3 IL2RG
17 11.27 ZAP70 MALT1 CD3D ARPC1B
18 10.67 NHEJ1 DCLRE1C
19 10.58 RAG2 RAG1 JAK3 IL7R IL2RG
Show member pathways
10.41 IL7R IL2RG

GO Terms for Combined Immunodeficiency

Cellular components related to Combined Immunodeficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 clathrin-coated endocytic vesicle membrane GO:0030669 9.73 CD3D IL7R TFRC
2 external side of plasma membrane GO:0009897 9.47 TFRC IL7R IL2RG ICOSLG CD3D CD27
3 nonhomologous end joining complex GO:0070419 9.46 DCLRE1C NHEJ1
4 DNA recombinase complex GO:0097519 9.26 RAG2 RAG1

Biological processes related to Combined Immunodeficiency according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 10.34 RAG1 JAK3 ICOSLG DCLRE1C CD3D ZAP70
2 cytokine-mediated signaling pathway GO:0019221 10.19 STAT1 JAK3 IL7R IL2RG
3 T cell receptor signaling pathway GO:0050852 10.13 ZAP70 MALT1 ICOSLG CD3D ADA
4 T cell activation GO:0042110 10.07 ZAP70 ICOSLG ADA
5 immune system process GO:0002376 10.04 CD3D DCLRE1C ICOSLG JAK3 MALT1 ZAP70
6 B cell activation GO:0042113 10.02 ICOSLG MALT1 ZAP70
7 T cell homeostasis GO:0043029 10 RAG1 JAK3 IL7R
8 B cell differentiation GO:0030183 10 DCLRE1C IL2RG JAK3 NHEJ1 RAG1 RAG2
9 positive regulation of T cell differentiation in thymus GO:0033089 9.95 IL7R IL2RG ADA
10 V(D)J recombination GO:0033151 9.93 RAG2 RAG1 DCLRE1C
11 thymocyte apoptotic process GO:0070242 9.91 BCL11B ADA
12 positive thymic T cell selection GO:0045059 9.91 ZAP70 CD3D
13 positive regulation of T cell differentiation GO:0045582 9.91 ZAP70 RAG1 CD27 ADA
14 positive regulation of alpha-beta T cell differentiation GO:0046638 9.9 ZAP70 ADA
15 interleukin-2-mediated signaling pathway GO:0038110 9.88 JAK3 IL2RG
16 T cell differentiation GO:0030217 9.87 ZAP70 RAG2 NHEJ1 IL7R ADA
17 interleukin-4-mediated signaling pathway GO:0035771 9.84 IL2RG JAK3
18 pre-B cell allelic exclusion GO:0002331 9.81 RAG2 RAG1
19 interleukin-7-mediated signaling pathway GO:0038111 9.8 IL7R IL2RG
20 alpha-beta T cell differentiation GO:0046632 9.8 ADA ZAP70 BCL11B
21 negative regulation of T cell apoptotic process GO:0070233 9.63 BCL11B CD27 IL7R RAG1
22 negative regulation of thymocyte apoptotic process GO:0070244 9.56 ADA BCL11B JAK3 RAG1
23 T cell differentiation in thymus GO:0033077 9.4 RAG1 IL7R IL2RG BCL11B ADA RAG2

Molecular functions related to Combined Immunodeficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 interleukin-7 receptor activity GO:0004917 8.92 IL7R IL2RG

Sources for Combined Immunodeficiency

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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