ADA
MCID: ADN001
MIFTS: 47

Adenosine Deaminase Deficiency (ADA)

Categories: Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Adenosine Deaminase Deficiency

MalaCards integrated aliases for Adenosine Deaminase Deficiency:

Name: Adenosine Deaminase Deficiency 12 74 24 52 25 36 54 15 37 71
Ada Deficiency 24 52 25
Ada-Scid 24 52 25
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 52 25
Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency 52 71
Adenosine Deaminase Deficient Severe Combined Immunodeficiency 52 25
Severe Combined Immunodeficiency Due to Ada Deficiency 52 25
Scid Due to Ada Deficiency 52 25
Ada 12

Classifications:



External Ids:

Disease Ontology 12 DOID:5810
KEGG 36 H02309
NCIt 49 C3962
SNOMED-CT 67 44940001
ICD10 32 D81.3 D81.30
UMLS 71 C0268124 C0392607

Summaries for Adenosine Deaminase Deficiency

Genetics Home Reference : 25 Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system. The main symptoms of ADA deficiency are pneumonia, chronic diarrhea, and widespread skin rashes. Affected children also grow much more slowly than healthy children and some have developmental delay. Most individuals with ADA deficiency are diagnosed with SCID in the first 6 months of life. Without treatment, these babies usually do not survive past age 2. In about 10 percent to 15 percent of cases, onset of immune deficiency is delayed to between 6 and 24 months of age (delayed onset) or even until adulthood (late onset). Immune deficiency in these later-onset cases tends to be less severe, causing primarily recurrent upper respiratory and ear infections. Over time, affected individuals may develop chronic lung damage, malnutrition, and other health problems.

MalaCards based summary : Adenosine Deaminase Deficiency, also known as ada deficiency, is related to pericardial tuberculosis and pleural empyema. An important gene associated with Adenosine Deaminase Deficiency is ADA (Adenosine Deaminase), and among its related pathways/superpathways are Purine metabolism and Primary immunodeficiency. The drugs Adenosine and Levoleucovorin have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are hematopoietic system and cellular

Disease Ontology : 12 A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP.

NIH Rare Diseases : 52 Adenosine deaminase deficiency (ADA deficiency) is an inherited condition that damages the immune system and is a common cause of severe combined immunodeficiency (SCID) . People with SCID due to ADA deficiency are unable to fight off most types of infections, including bacterial, viral and fungal infections. Most people with ADA deficiency develop symptoms before 6 months of age. The earliest symptoms of ADA deficiency include pneumonia, chronic diarrhea, widespread skin rashes, slowed growth, and/or developmental delay . Some people with ADA deficiency will develop symptoms later in life. The symptoms in the late-onset form are typically milder than in the form that occurs in infancy. ADA deficiency is caused by mutations in the ADA gene and is inherited in an autosomal recessive manner. Diagnosis may be suspected by newborn screening or symptoms and confirmed by blood and genetic test results. Currently, the most effective treatment is transplantation of blood-forming stem cells from the bone marrow of a healthy brother or sister of the person with ADA deficiency.

KEGG : 36 Adenosine deaminase (ADA) deficiency causes severe combined immunodeficiency disease (SCID). Profound lymphopenia in this disorder has been attributed to toxic levels of ADA substrates, particularly deoxyadenosine, generated from nucleic acid breakdown associated with cell turnover in marrow, thymus, and lymph nodes. Most patients have SCID, which is usually diagnosed in infancy and is often fatal, but some patients are diagnosed later in childhood or as adults. More than 50 ADA mutations are known. Most patients are heteroallelic, and most alleles are rare.

Wikipedia : 74 Adenosine deaminase deficiency is an autosomal recessive metabolic disorder that causes... more...

GeneReviews: NBK1483

Related Diseases for Adenosine Deaminase Deficiency

Diseases related to Adenosine Deaminase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 358)
# Related Disease Score Top Affiliating Genes
1 pericardial tuberculosis 32.3 CD4 ADA
2 pleural empyema 32.1 CD4 ADA
3 pericardial effusion 32.1 CD4 CD34 ADA
4 immunodeficiency 19 31.8 CD3D ADA
5 severe combined immunodeficiency, x-linked 31.7 LMO2 JAK3 IL2RG CD34 ADA
6 miliary tuberculosis 31.7 CD4 ADA
7 gastrointestinal tuberculosis 31.6 CD4 ADA
8 central nervous system tuberculosis 31.6 CD4 ADA
9 abdominal tuberculosis 31.5 CD4 ADA
10 hematologic cancer 31.4 PNP DNTT CD4 CD34 ADA
11 leukemia, chronic lymphocytic 31.3 PNP DNTT CD4 CD34 ADA
12 granulomatous disease, chronic, x-linked 31.3 LMO2 IL2RG CD34 ADA
13 reticular dysgenesis 31.2 RAG1 PNP JAK3 IL2RG ADA
14 pericardium disease 31.2 CD4 CD34 ADA
15 t-cell lymphoblastic leukemia/lymphoma 31.2 RAG2 RAG1 PNP LMO2 CD4 ADA
16 acquired immunodeficiency syndrome 31.2 CD4 CD34 ADA
17 leukemia, acute lymphoblastic 30.6 RAG1 LMO2 JAK3 DNTT CD4 CD34
18 lymphopenia 30.5 RAG1 PNP JAK3 IL2RG ADA
19 purine nucleoside phosphorylase deficiency 30.5 RAG1 PNP AHCY ADA
20 lymphoma, non-hodgkin, familial 30.3 RAG1 PNP GBA DNTT CD4 CD34
21 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 30.1 RAG2 RAG1 JAK3
22 t cell deficiency 29.9 RAG1 IL2RG CD4
23 b cell deficiency 29.6 RAG2 RAG1 CD4
24 immune deficiency disease 29.4 RAG2 RAG1 PNP JAK3 IL2RG CD4
25 common variable immunodeficiency 29.4 RAG2 RAG1 PNP JAK3 ADA
26 chronic granulomatous disease 29.2 LMO2 JAK3 ADA
27 pancytopenia 29.2 ITPA GBA CD4 CD34
28 leukemia, acute myeloid 28.7 LMO2 JAK3 DNTT CD4 CD34
29 combined t cell and b cell immunodeficiency 28.7 RAG2 RAG1 PNP LMO2 JAK3 IL2RG
30 severe combined immunodeficiency 28.6 RAG2 RAG1 PNP LMO2 JAK3 IL2RG
31 omenn syndrome 28.1 RAG2 RAG1 PNP JAK3 IL2RG CD4
32 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 13.1
33 pleurisy 11.5
34 pleural tuberculosis 11.5
35 pulmonary tuberculosis 11.5
36 meningitis 11.5
37 peritonitis 11.5
38 tuberculous peritonitis 11.5
39 pericarditis 11.5
40 cryptococcal meningitis 11.5
41 neural tube defects 11.5
42 mycobacterium tuberculosis 1 11.5
43 tuberculous meningitis 11.4
44 leukemia, chronic myeloid 11.4
45 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome 11.4
46 aseptic meningitis 11.4
47 maturity-onset diabetes of the young 11.4
48 middle east respiratory syndrome 11.4
49 congenital hemolytic anemia 11.4
50 bacterial pneumonia 11.4

Graphical network of the top 20 diseases related to Adenosine Deaminase Deficiency:



Diseases related to Adenosine Deaminase Deficiency

Symptoms & Phenotypes for Adenosine Deaminase Deficiency

MGI Mouse Phenotypes related to Adenosine Deaminase Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.24 ADA ADORA2A ADORA3 CD34 CD3D CD4
2 cellular MP:0005384 10.17 ADA CD34 CD4 GBA IL2RG ITPA
3 cardiovascular system MP:0005385 10.11 ADA ADORA2A ADORA3 GBA ITPA JAK3
4 homeostasis/metabolism MP:0005376 10.1 ADA ADK ADORA2A ADORA3 CD34 CD4
5 immune system MP:0005387 10.1 ADA ADORA2A ADORA3 CD34 CD3D CD4
6 endocrine/exocrine gland MP:0005379 10.01 ADA CD4 GBA IL2RG JAK3 PNP
7 integument MP:0010771 9.81 ADORA2A ADORA3 CD34 CD4 GBA ITPA
8 mortality/aging MP:0010768 9.73 ADA ADK AHCY CD4 GBA IL2RG
9 respiratory system MP:0005388 9.28 ADA ADK ADORA2A ADORA3 GBA IL2RG

Drugs & Therapeutics for Adenosine Deaminase Deficiency

Drugs for Adenosine Deaminase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational Phase 4 58-61-7 60961
2
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
3
leucovorin Approved Phase 2 58-05-9 6006 143
4
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
5
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
6
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
7 Antimetabolites Phase 2
8 Dermatologic Agents Phase 2
9 Antirheumatic Agents Phase 2
10 Micronutrients Phase 2
11 Vitamin B Complex Phase 2
12 Antidotes Phase 2
13 Folic Acid Antagonists Phase 2
14 Vitamins Phase 2
15 Hematinics Phase 2
16 Folate Phase 2
17 Nutrients Phase 2
18 Vitamin B9 Phase 2
19 Trace Elements Phase 2
20 Protective Agents Phase 2
21 Alkylating Agents Phase 1, Phase 2
22 Immunosuppressive Agents Phase 1, Phase 2
23 Immunologic Factors Phase 1, Phase 2
24
Zidovudine Approved Phase 1 30516-87-1 35370
25
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
26
Mycophenolic acid Approved Phase 1 24280-93-1 446541
27
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
28 Anti-HIV Agents Phase 1
29 Anti-Infective Agents Phase 1
30 Reverse Transcriptase Inhibitors Phase 1
31 Antiviral Agents Phase 1
32 Anti-Retroviral Agents Phase 1
33 Antitubercular Agents Phase 1
34 Anti-Bacterial Agents Phase 1
35 Antifungal Agents Phase 1
36 Cyclosporins Phase 1
37 Antibiotics, Antitubercular Phase 1
38 Calcineurin Inhibitors Phase 1
39
tannic acid Approved 1401-55-4
40
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
41 Anti-Arrhythmia Agents
42 Vasodilator Agents
43 Neurotransmitter Agents
44 Analgesics

Interventional clinical trials:

(show all 24)
# 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 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
3 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
4 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
5 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
6 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
7 Phase I Gene Therapy Protocol for Adenosine Deaminase Deficiency Completed NCT01279720 Phase 1, Phase 2
8 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID Completed NCT00598481 Phase 2
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 Mechanisms of Antifolate Efficacy in Arthritis Completed NCT00000395 Phase 2 Methotrexate
12 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
13 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
14 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
15 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
16 Treatment of Severe Combined Immunodeficiency Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency With Autologous Lymphocytes of CD34+ Cells Transduced With a Human ADA Gene: A Natural History Study Completed NCT00001255 ADA PBSC;ADA Umbilical Cord Blood Cells;Transduced Lymphocytes
17 Clinical Course in Cystic Fibrosis: The Effects of Pseudomonas Aeruginosa and Potential Modifier Genes Completed NCT00043225
18 Evaluation of Referring HCPs' and Parents'/Carers' Understanding of Specific Risks Associated With Strimvelis™ Treatment Recruiting NCT03232203 STRIMVELIS
19 Single Arm, Open-Label, Multicenter, Registry Study of Revcovi (Elapegademase-lvlr) Treatment in ADA-SCID Patients Requiring Enzyme Replacement Therapy Recruiting NCT03878069
20 Gene Transfer for Adenosine Deaminase-severe Combined Immunodeficiency (ADA-SCID) Using an Improved Self-inactivating Lentiviral Vector (TYF-ADA) Recruiting NCT03645460
21 Molecular and Clinical Studies of Primary Immunodeficiency Diseases Active, not recruiting NCT00006319
22 An Observational Long-term Follow-up Study for Patients Previously Treated With Autologous ex Vivo Gene Therapy for Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency (ADA-SCID) Enrolling by invitation NCT04049084
23 Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Registry for Patients Treated With Strimvelis (Previously GSK2696273) Gene Therapy: Long-Term Prospective, Non-Interventional Follow-up of Safety and Effectiveness Enrolling by invitation NCT03478670
24 Quality of Life and Neuropsychiatric Sequelae in Patients Treated With Gene Therapy for ADA-SCID and in Their Parents Withdrawn NCT01182857

Search NIH Clinical Center for Adenosine Deaminase Deficiency

Genetic Tests for Adenosine Deaminase Deficiency

Anatomical Context for Adenosine Deaminase Deficiency

MalaCards organs/tissues related to Adenosine Deaminase Deficiency:

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

Publications for Adenosine Deaminase Deficiency

Articles related to Adenosine Deaminase Deficiency:

(show top 50) (show all 559)
# Title Authors PMID Year
1
Gene therapy for adenosine deaminase deficiency. 54 61 24
20493400 2010
2
Neurologic abnormalities in patients with adenosine deaminase deficiency. 24 54 61
17765813 2007
3
Bilateral sensorineural deafness in adenosine deaminase-deficient severe combined immunodeficiency. 24 54 61
14760277 2004
4
Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy. 24 61 54
11807006 2002
5
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. 61 54 24
9758612 1998
6
Adenosine deaminase deficiency in adults. 54 61 24
9108404 1997
7
Sensorineural deafness in siblings with adenosine deaminase deficiency. 54 61 24
8879650 1996
8
Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency. 24 54 61
8614422 1996
9
IgG antibody response to polyethylene glycol-modified adenosine deaminase in patients with adenosine deaminase deficiency. 61 24 54
1569204 1992
10
Hot spot mutations in adenosine deaminase deficiency. 54 24 61
2166947 1990
11
Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency. 61 52
30194989 2019
12
Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency. 24 61
27129325 2016
13
Adenosine Deaminase Deficiency - More Than Just an Immunodeficiency. 24 61
27579027 2016
14
Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency. 61 24
26682746 2015
15
Lentiviral vectors for the treatment of primary immunodeficiencies. 24 61
24619149 2014
16
Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency. 61 24
23280131 2013
17
Characteristic scapular and rib changes on chest radiographs of children with ADA-deficiency SCIDS in the first year of life. 61 24
23179487 2013
18
Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. 61 24
22791287 2012
19
Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis. 24 61
22578972 2012
20
Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency. 61 24
22409989 2012
21
Non-infectious lung disease in patients with adenosine deaminase deficient severe combined immunodeficiency. 61 24
22350222 2012
22
Multicentric dermatofibrosarcoma protuberans in patients with adenosine deaminase-deficient severe combined immune deficiency. 24 61
22153773 2012
23
Autoimmune dysregulation and purine metabolism in adenosine deaminase deficiency. 61 24
22969765 2012
24
Somatic mosaicism caused by monoallelic reversion of a mutation in T cells of a patient with ADA-SCID and the effects of enzyme replacement therapy on the revertant phenotype. 61 24
21671975 2011
25
Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency. 24 61
21725047 2011
26
Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: a reliable and inexpensive method using tandem mass spectrometry. 61 24
21624616 2011
27
The different extent of B and T cell immune reconstitution after hematopoietic stem cell transplantation and enzyme replacement therapies in SCID patients with adenosine deaminase deficiency. 61 24
21057082 2010
28
Role of reduced intensity conditioning in T-cell and B-cell immune reconstitution after HLA-identical bone marrow transplantation in ADA-SCID. 61 24
20460637 2010
29
Late-onset adenosine deaminase deficiency presenting with Heck's disease. 24 61
20039061 2010
30
Bone marrow transplantation and alternatives for adenosine deaminase deficiency. 61 24
20493398 2010
31
How I treat ADA deficiency. 61 24
19638621 2009
32
Gene therapy for immunodeficiency due to adenosine deaminase deficiency. 24 61
19179314 2009
33
Burkitt's lymphoma in a patient with adenosine deaminase deficiency-severe combined immunodeficiency treated with polyethylene glycol-adenosine deaminase. 24 61
17586199 2007
34
Prolonged pancytopenia in a gene therapy patient with ADA-deficient SCID and trisomy 8 mosaicism: a case report. 61 24
16973956 2007
35
Successful reconstitution of immunity in ADA-SCID by stem cell gene therapy following cessation of PEG-ADA and use of mild preconditioning. 61 24
16905365 2006
36
Reduced thymic output, increased spontaneous apoptosis and oligoclonal B cells in polyethylene glycol-adenosine deaminase-treated patients. 61 24
16276484 2005
37
Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. 61 24
15032591 2004
38
Recalcitrant palmoplantar warts associated with adult-onset adenosine deaminase deficiency. 24 61
12100213 2002
39
Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. 24 61
12089448 2002
40
Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency. 24 61
11445793 2001
41
Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. 24 61
8673127 1996
42
Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency. 24 61
8178821 1994
43
Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase. 61 24
3807953 1987
44
Long-Term Outcome of Adenosine Deaminase-Deficient Patients-a Single-Center Experience. 52
28748310 2017
45
Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience. 24
26376800 2015
46
Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome. 24
25875700 2015
47
Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. 24
24290292 2014
48
B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients. 24
24506932 2014
49
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. 24
24552285 2014
50
Early-onset stroke and vasculopathy associated with mutations in ADA2. 24
24552284 2014

Variations for Adenosine Deaminase Deficiency

Expression for Adenosine Deaminase Deficiency

Search GEO for disease gene expression data for Adenosine Deaminase Deficiency.

Pathways for Adenosine Deaminase Deficiency

Pathways related to Adenosine Deaminase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Purine metabolism hsa00230
2 Primary immunodeficiency hsa05340

GO Terms for Adenosine Deaminase Deficiency

Cellular components related to Adenosine Deaminase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.35 IL2RG CD4 CD3D CD34 ADA
2 DNA recombinase complex GO:0097519 8.62 RAG2 RAG1

Biological processes related to Adenosine Deaminase Deficiency according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of inflammatory response GO:0050728 9.76 GBA ADORA2A ADA
2 B cell differentiation GO:0030183 9.69 RAG2 RAG1 JAK3
3 positive regulation of T cell activation GO:0050870 9.6 CD4 ADA
4 positive regulation of T cell differentiation GO:0045582 9.59 RAG1 ADA
5 positive regulation of calcium-mediated signaling GO:0050850 9.58 CD4 ADA
6 positive regulation of T cell proliferation GO:0042102 9.58 PNP JAK3 CD4
7 regulation of T cell differentiation GO:0045580 9.57 RAG1 ADA
8 purine nucleotide catabolic process GO:0006195 9.56 PNP ITPA
9 interleukin-2-mediated signaling pathway GO:0038110 9.55 JAK3 IL2RG
10 V(D)J recombination GO:0033151 9.54 RAG2 RAG1
11 positive regulation of alpha-beta T cell differentiation GO:0046638 9.52 PNP ADA
12 T cell differentiation GO:0030217 9.5 RAG2 CD4 CD3D
13 interleukin-9-mediated signaling pathway GO:0038113 9.49 JAK3 IL2RG
14 adenosine receptor signaling pathway GO:0001973 9.48 ADORA3 ADORA2A
15 interleukin-21-mediated signaling pathway GO:0038114 9.46 JAK3 IL2RG
16 enzyme linked receptor protein signaling pathway GO:0007167 9.43 JAK3 CD4
17 interleukin-4-mediated signaling pathway GO:0035771 9.37 JAK3 IL2RG
18 purine-containing compound salvage GO:0043101 9.33 PNP ADK ADA
19 pre-B cell allelic exclusion GO:0002331 9.26 RAG2 RAG1
20 interleukin-15-mediated signaling pathway GO:0035723 9.13 JAK3 IL2RG CD4
21 negative regulation of thymocyte apoptotic process GO:0070244 8.8 RAG1 JAK3 ADA

Molecular functions related to Adenosine Deaminase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.5 RAG1 PNP ITPA CD4 CD3D AHCY
2 G protein-coupled adenosine receptor activity GO:0001609 8.62 ADORA3 ADORA2A

Sources for Adenosine Deaminase Deficiency

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
Content
Loading form....