ADASCID
MCID: SVR095
MIFTS: 47

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency (ADASCID)

Categories: Blood diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Severe Combined Immunodeficiency, Autosomal Recessive, T...

MalaCards integrated aliases for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency:

Name: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 57 6
Severe Combined Immunodeficiency Due to Ada Deficiency 57 72 29 6 39
Partial Adenosine Deaminase Deficiency 29 6 17 70
Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency 58 70
Adenosine Deaminase Deficiency, Partial 57 13
Adenosine Deaminase Deficiency 72 70
Scid Due to Ada Deficiency 57 72
Ada Deficiency 58 72
Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/b-Cell-Negative/nk-Cell-Negative Due to Adenosine Deaminase Deficiency 72
Severe Combined Immunodeficiency Autosomal Recessive T-Cell Negative/b-Cell Negative/nk-Cell Negative Due to Adenosine Deaminase Deficiency 72
Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/b Cell-Negative/nk Cell-Negative Due to Adenosine Deaminase Deficiency 72
Scid Due to Adenosine Deaminase Deficiency 58
Scid Due to Ada Deficiency, Early-Onset 57
Ada-Scid 57
Adascid 72

Characteristics:

Orphanet epidemiological data:

58
severe combined immunodeficiency due to adenosine deaminase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
somatic mosaicism
autosomal recessive

Miscellaneous:
late onset combined immunodeficiency with allelic variant
85-90% with manifestations in first months of life
10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age
recurrent bacterial, viral, and fungal infections
treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy


HPO:

31
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency:
Inheritance autosomal recessive inheritance somatic mosaicism


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare immunological diseases


External Ids:

OMIM® 57 102700
MeSH 44 D016511
MESH via Orphanet 45 C531816
ICD10 via Orphanet 33 D81.3
UMLS via Orphanet 71 C0268124 C0392607
Orphanet 58 ORPHA277
UMLS 70 C0268124 C0392607 C1863239

Summaries for Severe Combined Immunodeficiency, Autosomal Recessive, T...

UniProtKB/Swiss-Prot : 72 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency: An autosomal recessive disorder accounting for about 50% of non-X- linked SCIDs. SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell- mediated cellular immunity due to a defect in T-cell development. ADA deficiency has been diagnosed in chronically ill teenagers and adults (late or adult onset). Population and newborn screening programs have also identified several healthy individuals with normal immunity who have partial ADA deficiency.

MalaCards based summary : Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency, also known as severe combined immunodeficiency due to ada deficiency, is related to adenosine deaminase deficiency and severe combined immunodeficiency. An important gene associated with Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency is ADA (Adenosine Deaminase). The drugs Adenosine and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and t cells, and related phenotypes are failure to thrive and sinusitis

OMIM® : 57 Severe combined immunodeficiency (SCID) resulting from inherited ADA deficiency causes a variable phenotypic spectrum, the most severe being SCID presenting in infancy and usually resulting in early death. Ten to 15% of patients have a 'delayed' clinical onset by age 6 to 24 months, and a smaller percentage of patients have 'later' onset, diagnosed from ages 4 years to adulthood, showing less severe infections and gradual immunologic deterioration. Finally, 'partial' ADA deficiency occurs in a subset of immunocompetent individuals who show decreased enzyme activity in erythrocytes, but retain substantial enzyme activity ranging from 5 to 80% of normal in leukocytes and other nucleated cells (summary by Arredondo-Vega et al., 1994). ADA deficiency accounts for approximately 15% of all SCID cases and one-third of cases of autosomal recessive SCID (Hershfield, 2003). (102700) (Updated 20-May-2021)

Related Diseases for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Diseases related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 adenosine deaminase deficiency 32.4 LOC107303343 ADA
2 severe combined immunodeficiency 30.6 LOC107303343 ADA
3 combined immunodeficiency 30.3 LOC107303343 ADA
4 severe combined immunodeficiency, x-linked 11.3
5 lymphopenia 10.6
6 neutropenia 10.3
7 purine nucleoside phosphorylase deficiency 10.3
8 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
9 bronchitis 10.2
10 thyroiditis 10.2
11 lung disease 10.2
12 hashimoto thyroiditis 10.1
13 omenn syndrome 10.1
14 abdominal obesity-metabolic syndrome 1 10.1
15 exanthem 10.1
16 autosomal recessive disease 10.1
17 pulmonary alveolar proteinosis 10.1
18 hypothyroidism 10.1
19 candidiasis 10.1
20 chickenpox 10.1
21 hypereosinophilic syndrome 10.1
22 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 10.1
23 combined t and b cell immunodeficiency 10.1
24 autoimmune disease 10.0
25 burkitt lymphoma 10.0
26 osteoporosis 10.0
27 cryptorchidism, unilateral or bilateral 10.0
28 type 1 diabetes mellitus 10.0
29 sucrase-isomaltase deficiency, congenital 10.0
30 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
31 myelofibrosis 10.0
32 wiskott-aldrich syndrome 10.0
33 muscular dystrophy, duchenne type 10.0
34 branchiootic syndrome 1 10.0
35 dermatitis, atopic 10.0
36 human immunodeficiency virus type 1 10.0
37 bone mineral density quantitative trait locus 8 10.0
38 bone mineral density quantitative trait locus 15 10.0
39 inosine triphosphatase deficiency 10.0
40 hemoglobin h disease 10.0
41 graft-versus-host disease 10.0
42 mumps 10.0
43 bacterial infectious disease 10.0
44 t cell deficiency 10.0
45 arteriovenous malformation 10.0
46 hemosiderosis 10.0
47 common variable immunodeficiency 10.0
48 hepatitis a 10.0
49 telangiectasis 10.0
50 diarrhea 10.0

Graphical network of the top 20 diseases related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency:



Diseases related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency

Symptoms & Phenotypes for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Human phenotypes related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 Frequent (79-30%) HP:0001508
2 sinusitis 58 31 Frequent (79-30%) HP:0000246
3 diarrhea 58 31 Frequent (79-30%) HP:0002014
4 b lymphocytopenia 58 31 Frequent (79-30%) HP:0010976
5 splenomegaly 31 HP:0001744
6 hepatomegaly 31 HP:0002240
7 recurrent upper respiratory tract infections 58 Frequent (79-30%)
8 recurrent otitis media 58 Frequent (79-30%)
9 autoimmunity 58 Frequent (79-30%)
10 lymphopenia 58 Frequent (79-30%)
11 platyspondyly 31 HP:0000926
12 asthma 31 HP:0002099
13 abnormality of pelvic girdle bone morphology 31 HP:0002644
14 recurrent pneumonia 58 Frequent (79-30%)
15 eosinophilia 31 HP:0001880
16 pneumonia 31 HP:0002090
17 increased circulating total ige level 58 Frequent (79-30%)
18 abnormality of humoral immunity 58 Frequent (79-30%)
19 decreased circulating iga level 31 HP:0002720
20 severe combined immunodeficiency 31 HP:0004430
21 anterior rib cupping 31 HP:0000907
22 decreased circulating total igm 31 HP:0002850
23 inflammatory abnormality of the skin 58 Frequent (79-30%)
24 aplasia of the thymus 31 HP:0005359
25 autoimmune hemolytic anemia 31 HP:0001890
26 b-cell lymphoma 31 HP:0012191
27 autoimmune thrombocytopenia 31 HP:0001973
28 recurrent bacterial infections 31 HP:0002718
29 recurrent fungal infections 31 HP:0002841
30 recurrent viral infections 31 HP:0004429
31 decrease in t cell count 58 Frequent (79-30%)
32 severe b lymphocytopenia 31 HP:0005365
33 allergy 58 Frequent (79-30%)
34 absence of lymph node germinal center 58 Frequent (79-30%)
35 lack of t cell function 58 Frequent (79-30%)
36 recurrent opportunistic infections 58 Frequent (79-30%)
37 pulmonary insufficiency 58 Frequent (79-30%)
38 anti-thyroid peroxidase antibody positivity 58 Frequent (79-30%)
39 absent tonsils 58 Frequent (79-30%)
40 diffuse mesangial sclerosis 31 HP:0001967
41 increased circulating ige level 31 HP:0003212
42 absent specific antibody response 31 HP:0005424
43 decreased circulating igg2 level 31 HP:0008348
44 reduced red cell adenosine deaminase level 31 HP:0030273
45 growth arrest lines 31 HP:0031164

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Immunology:
lymphopenia
absent specific antibody response
frequent fungal, viral, and opportunistic infections
absent b cells
absent t cells
more
Respiratory Airways:
asthma

Respiratory Lung:
pneumonia

Neoplasia:
b-cell lymphoma

Genitourinary Kidneys:
mesangial sclerosis

Skeletal Limbs:
thick growth arrest lines

Abdomen Spleen:
splenomegaly

Respiratory Nasopharynx:
sinusitis

Skeletal Spine:
platyspondyly

Hematology:
eosinophilia
autoimmune hemolytic anemia
idiopathic thrombocytopenia

Abdomen Gastrointestinal:
diarrhea

Chest External Features:
cupping and flaring of costochondral junctions

Skeletal Pelvis:
pelvic dysplasia

Laboratory Abnormalities:
reduced erythrocyte adenosine deaminase activity
increased ige levels
low or absent iga levels
low or absent igm levels
absent igg2 subclass
more

Clinical features from OMIM®:

102700 (Updated 20-May-2021)

Drugs & Therapeutics for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Drugs for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational Phase 2, Phase 3 58-61-7 60961
2
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
3 Immunosuppressive Agents Phase 1, Phase 2
4 Alkylating Agents Phase 1, Phase 2
5 Immunologic Factors Phase 1, Phase 2
6
Zidovudine Approved Phase 1 30516-87-1 35370
7
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
8
Mycophenolic acid Approved Phase 1 24280-93-1 446541
9
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
10 Antimetabolites Phase 1
11 Anti-Infective Agents Phase 1
12 Reverse Transcriptase Inhibitors Phase 1
13 Antiviral Agents Phase 1
14 Anti-HIV Agents Phase 1
15 Anti-Retroviral Agents Phase 1
16 Antirheumatic Agents Phase 1
17 Antibiotics, Antitubercular Phase 1
18 Anti-Bacterial Agents Phase 1
19 Cyclosporins Phase 1
20 Calcineurin Inhibitors Phase 1
21 Dermatologic Agents Phase 1
22 Antifungal Agents Phase 1
23 Antitubercular Agents Phase 1
24
tannic acid Approved 1401-55-4
25
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
26 Anti-Arrhythmia Agents
27 Vasodilator Agents
28 Neurotransmitter Agents
29 Analgesics

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 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
2 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) Suspended NCT04140539 Phase 2, Phase 3
3 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
4 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
5 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
6 Phase I Gene Therapy Protocol for Adenosine Deaminase Deficiency Completed NCT01279720 Phase 1, Phase 2
7 Treatment of ADA-SCID by Gene Therapy on Somatic Cells Completed NCT00599781 Phase 1, Phase 2
8 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID Completed NCT00598481 Phase 2 Busulfan;PEG-ADA
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 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
11 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
12 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
13 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
14 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
15 Evaluation of Referring HCPs' and Parents'/Carers' Understanding of Specific Risks Associated With Strimvelis™ Treatment Recruiting NCT03232203 STRIMVELIS
16 Single Arm, Open-Label, Multicenter, Registry Study of Revcovi (Elapegademase-lvlr) Treatment in ADA-SCID Patients Requiring Enzyme Replacement Therapy Recruiting NCT03878069
17 Gene Transfer for Adenosine Deaminase-severe Combined Immunodeficiency (ADA-SCID) Using an Improved Self-inactivating Lentiviral Vector (TYF-ADA) Recruiting NCT03645460
18 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
19 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
20 Protocol For The Emergency Use Of Adoptive Immunotherapy With CMV-Specific T Cells Following HLA-Matched Unrelated Donor Bone Marrow Transplant Of An Infant With ADA-SCIDs And Pre Transplant CMV Infection No longer available NCT00547235
21 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 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency

Genetic Tests for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Genetic tests related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency:

# Genetic test Affiliating Genes
1 Severe Combined Immunodeficiency Due to Ada Deficiency 29 ADA
2 Partial Adenosine Deaminase Deficiency 29

Anatomical Context for Severe Combined Immunodeficiency, Autosomal Recessive, T...

MalaCards organs/tissues related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency:

40
Bone, Bone Marrow, T Cells, Thymus, B Cells, Lymph Node, Liver

Publications for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Articles related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency:

(show top 50) (show all 142)
# Title Authors PMID Year
1
Gene therapy for immunodeficiency due to adenosine deaminase deficiency. 6 57
19179314 2009
2
Genotype is an important determinant of phenotype in adenosine deaminase deficiency. 57 6
14499267 2003
3
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. 6 57
9758612 1998
4
Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency. 57 6
9414266 1998
5
Adenosine deaminase deficiency in adults. 6 57
9108404 1997
6
Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. 6 57
8673127 1996
7
Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency. 57 6
8614422 1996
8
Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency. 57 6
8051429 1994
9
Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery. 6 57
8023852 1994
10
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. 6 57
8178821 1994
11
Heterogeneity of phenotype in two siblings with adenosine deaminase deficiency. 57 6
8120281 1994
12
An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover. 57 6
8031011 1994
13
Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype. 57 6
8227344 1993
14
Hot spot mutations in adenosine deaminase deficiency. 57 6
2166947 1990
15
Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency. 6 57
1974554 1990
16
Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency. 57 6
2783588 1989
17
Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements. 6 57
3366897 1988
18
Immunologic reconstitution after haploidentical bone marrow transplantation for immune deficiency disorders: treatment of bone marrow cells with monoclonal antibody CT-2 and complement. 57 6
3304460 1987
19
Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing. 57 6
3475710 1987
20
One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity. 6 57
3007108 1986
21
Immunological and biochemical profiles in response to transfusion therapy in an adenosine deaminase-deficient patient with severe combined immunodeficiency disease. 6 57
498598 1979
22
Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency. 6 57
980079 1976
23
Adenosine-deaminase deficiency in a child diagnosed prenatally. 57 6
46025 1975
24
The binding site of human adenosine deaminase for CD26/Dipeptidyl peptidase IV: the Arg142Gln mutation impairs binding to cd26 but does not cause immune deficiency. 61 6
11067872 2000
25
Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases. 6
31319225 2019
26
Rethinking newborn screening for severe combined immunodeficiency: Lessons from an international partnership for patients with primary immunodeficiencies in Pakistan. 6
30858051 2019
27
ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome. 6
29744787 2018
28
Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade´s Experience. 6
28266921 2017
29
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. 6
27484032 2016
30
Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency. 6
27129325 2016
31
Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing. 6
27872624 2016
32
Combined immunodeficiencies: twenty years experience from a single center in Turkey. 6
27095930 2016
33
Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities. 6
26255240 2015
34
Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience. 6
26376800 2015
35
Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome. 6
25875700 2015
36
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
37
Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy. 6
23260757 2013
38
Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans. 6
22968453 2012
39
Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis. 6
22447032 2012
40
Severe combined immunodeficiency due to adenosine deaminase deficiency. 6
22764473 2012
41
Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency. 6
25954555 2012
42
Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. 6
21664875 2011
43
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. 6
21624848 2011
44
Determination of adenosine deaminase activity in dried blood spots by a nonradiochemical assay using reversed-phase high-performance liquid chromatography. 6
20544538 2010
45
Polyethylene glycol-modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency. 6
19665771 2009
46
Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient. 6
18952502 2009
47
Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. 6
17185467 2007
48
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. 6
16825284 2006
49
Reduced thymic output, increased spontaneous apoptosis and oligoclonal B cells in polyethylene glycol-adenosine deaminase-treated patients. 6
16276484 2005
50
Adenosine kinase inhibition promotes survival of fetal adenosine deaminase-deficient thymocytes by blocking dATP accumulation. 57
12163459 2002

Variations for Severe Combined Immunodeficiency, Autosomal Recessive, T...

ClinVar genetic disease variations for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency:

6 (show top 50) (show all 211)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADA NM_000022.4(ADA):c.643G>A (p.Ala215Thr) SNV Pathogenic 1967 rs114025668 GRCh37: 20:43251683-43251683
GRCh38: 20:44623042-44623042
2 ADA NM_000022.4(ADA):c.454C>A (p.Leu152Met) SNV Pathogenic 1979 rs121908728 GRCh37: 20:43254234-43254234
GRCh38: 20:44625593-44625593
3 ADA NM_000022.4(ADA):c.7C>T (p.Gln3Ter) SNV Pathogenic 377441 rs1057520217 GRCh37: 20:43280242-43280242
GRCh38: 20:44651601-44651601
4 ADA NM_000022.4(ADA):c.424C>T (p.Arg142Ter) SNV Pathogenic 552928 rs780014431 GRCh37: 20:43254264-43254264
GRCh38: 20:44625623-44625623
5 LOC107303343 , ADA NM_000022.4(ADA):c.95+1G>A SNV Pathogenic 555196 rs778343059 GRCh37: 20:43264867-43264867
GRCh38: 20:44636226-44636226
6 ADA NM_000022.4(ADA):c.478+1G>A SNV Pathogenic 265025 rs761242509 GRCh37: 20:43254209-43254209
GRCh38: 20:44625568-44625568
7 ADA NM_000022.4(ADA):c.956_960del (p.Glu319fs) Deletion Pathogenic 193544 rs771266745 GRCh37: 20:43249674-43249678
GRCh38: 20:44621033-44621037
8 ADA NM_000022.4(ADA):c.646G>A (p.Gly216Arg) SNV Pathogenic 1968 rs121908723 GRCh37: 20:43251680-43251680
GRCh38: 20:44623039-44623039
9 ADA NM_000022.4(ADA):c.698C>T (p.Thr233Ile) SNV Pathogenic 1980 rs121908729 GRCh37: 20:43251552-43251552
GRCh38: 20:44622911-44622911
10 ADA NM_000022.4(ADA):c.1019_1020AG[1] (p.Arg341fs) Microsatellite Pathogenic 847778 GRCh37: 20:43248996-43248997
GRCh38: 20:44620355-44620356
11 ADA NM_000022.4(ADA):c.362+5_362+8del Microsatellite Pathogenic 417999 rs763595926 GRCh37: 20:43255089-43255092
GRCh38: 20:44626448-44626451
12 ADA NM_000022.4(ADA):c.226C>T (p.Arg76Trp) SNV Pathogenic 1962 rs121908736 GRCh37: 20:43255233-43255233
GRCh38: 20:44626592-44626592
13 ADA NM_000022.4(ADA):c.890C>A (p.Pro297Gln) SNV Pathogenic 1961 rs121908718 GRCh37: 20:43249744-43249744
GRCh38: 20:44621103-44621103
14 ADA NM_000022.4(ADA):c.631C>T (p.Arg211Cys) SNV Pathogenic 1966 rs121908740 GRCh37: 20:43251695-43251695
GRCh38: 20:44623054-44623054
15 ADA and overlap with 1 gene(s) NC_000020.11:g.(?_44651555)_(44651627_?)del Deletion Pathogenic 584223 GRCh37: 20:43280196-43280268
GRCh38: 20:44651555-44651627
16 ADA NM_000022.4(ADA):c.821C>T (p.Pro274Leu) SNV Pathogenic 1964 rs121908738 GRCh37: 20:43251253-43251253
GRCh38: 20:44622612-44622612
17 ADA NM_000022.4(ADA):c.446G>A (p.Arg149Gln) SNV Pathogenic 1963 rs121908737 GRCh37: 20:43254242-43254242
GRCh38: 20:44625601-44625601
18 ADA NM_000022.4(ADA):c.302G>A (p.Arg101Gln) SNV Pathogenic 1956 rs121908714 GRCh37: 20:43255157-43255157
GRCh38: 20:44626516-44626516
19 ADA NM_000022.4(ADA):c.690dup (p.Leu231fs) Duplication Pathogenic 960034 GRCh37: 20:43251559-43251560
GRCh38: 20:44622918-44622919
20 ADA NM_000022.4(ADA):c.645_648dup (p.Glu217fs) Duplication Pathogenic 959920 GRCh37: 20:43251677-43251678
GRCh38: 20:44623036-44623037
21 ADA NM_000022.4(ADA):c.879_898del (p.Thr294fs) Deletion Pathogenic 968429 GRCh37: 20:43249736-43249755
GRCh38: 20:44621095-44621114
22 ADA NC_000020.11:g.(?_44651565)_(44651768_?)del Deletion Pathogenic 830495 GRCh37: 20:43280206-43280409
GRCh38:
23 ADA NM_000022.4(ADA):c.970del (p.Arg324fs) Deletion Pathogenic 860314 GRCh37: 20:43249664-43249664
GRCh38: 20:44621023-44621023
24 ADA NM_000022.4(ADA):c.705del (p.Leu236fs) Deletion Pathogenic 839704 GRCh37: 20:43251545-43251545
GRCh38: 20:44622904-44622904
25 ADA NC_000020.11:g.(?_44636217)_(44636298_?)del Deletion Pathogenic 832749 GRCh37: 20:43264858-43264939
GRCh38:
26 ADA GRCh37/hg19 20q13.12(chr20:43264839-43265435) copy number gain Pathogenic 625690 GRCh37: 20:43264839-43265435
GRCh38:
27 ADA NM_000022.4(ADA):c.367del (p.Asp123fs) Deletion Pathogenic 624583 rs758073965 GRCh37: 20:43254321-43254321
GRCh38: 20:44625680-44625680
28 ADA NM_000022.4(ADA):c.455T>C (p.Leu152Pro) SNV Pathogenic 624582 rs1568845361 GRCh37: 20:43254233-43254233
GRCh38: 20:44625592-44625592
29 ADA NM_000022.4(ADA):c.736C>T (p.Gln246Ter) SNV Pathogenic 549915 rs1555844120 GRCh37: 20:43251514-43251514
GRCh38: 20:44622873-44622873
30 ADA NM_000022.4(ADA):c.385G>A (p.Val129Met) SNV Pathogenic 68260 rs121908731 GRCh37: 20:43254303-43254303
GRCh38: 20:44625662-44625662
31 ADA NM_000022.4(ADA):c.290A>G (p.Tyr97Cys) SNV Pathogenic 1981 rs267606634 GRCh37: 20:43255169-43255169
GRCh38: 20:44626528-44626528
32 ADA NM_000022.4(ADA):c.33+1G>C SNV Pathogenic 1976 rs587776534 GRCh37: 20:43280215-43280215
GRCh38: 20:44651574-44651574
33 ADA ADA, 7-BP INS, IVS8AS Indel Pathogenic 1975 GRCh37: 20:43251293-43251296
GRCh38:
34 ADA ADA, IVS2DS, G-A, +1 SNV Pathogenic 1974 GRCh37:
GRCh38:
35 ADA ADA, 3.25-KB DEL, ALU-RELATED Deletion Pathogenic 1960 GRCh37:
GRCh38:
36 ADA NM_000022.4(ADA):c.703C>T (p.Arg235Trp) SNV Pathogenic/Likely pathogenic 468281 rs778809577 GRCh37: 20:43251547-43251547
GRCh38: 20:44622906-44622906
37 ADA NM_000022.4(ADA):c.704G>A (p.Arg235Gln) SNV Pathogenic/Likely pathogenic 228244 rs79281338 GRCh37: 20:43251546-43251546
GRCh38: 20:44622905-44622905
38 LOC107303343 , ADA NM_000022.4(ADA):c.43C>G (p.His15Asp) SNV Pathogenic/Likely pathogenic 68263 rs121908725 GRCh37: 20:43264920-43264920
GRCh38: 20:44636279-44636279
39 ADA NM_000022.4(ADA):c.320T>C (p.Leu107Pro) SNV Pathogenic/Likely pathogenic 1965 rs121908739 GRCh37: 20:43255139-43255139
GRCh38: 20:44626498-44626498
40 ADA NM_000022.4(ADA):c.986C>T (p.Ala329Val) SNV Pathogenic/Likely pathogenic 1959 rs121908715 GRCh37: 20:43249032-43249032
GRCh38: 20:44620391-44620391
41 ADA NM_000022.4(ADA):c.632G>A (p.Arg211His) SNV Pathogenic/Likely pathogenic 1957 rs121908716 GRCh37: 20:43251694-43251694
GRCh38: 20:44623053-44623053
42 ADA NM_000022.4(ADA):c.872C>T (p.Ser291Leu) SNV Pathogenic/Likely pathogenic 1971 rs121908721 GRCh37: 20:43249762-43249762
GRCh38: 20:44621121-44621121
43 ADA NM_000022.4(ADA):c.466C>T (p.Arg156Cys) SNV Pathogenic/Likely pathogenic 1970 rs121908735 GRCh37: 20:43254222-43254222
GRCh38: 20:44625581-44625581
44 ADA NM_000022.4(ADA):c.529G>A (p.Val177Met) SNV Pathogenic/Likely pathogenic 68265 rs121908719 GRCh37: 20:43252920-43252920
GRCh38: 20:44624279-44624279
45 ADA NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) Deletion Pathogenic/Likely pathogenic 505549 rs886041796 GRCh37: 20:43252917-43252917
GRCh38: 20:44624276-44624276
46 ADA NM_000022.4(ADA):c.396dup (p.Val133fs) Duplication Pathogenic/Likely pathogenic 550821 rs1555844617 GRCh37: 20:43254291-43254292
GRCh38: 20:44625650-44625651
47 ADA NM_000022.4(ADA):c.859C>T (p.Gln287Ter) SNV Likely pathogenic 983708 GRCh37: 20:43249775-43249775
GRCh38: 20:44621134-44621134
48 ADA NM_000022.4(ADA):c.791G>A (p.Trp264Ter) SNV Likely pathogenic 983780 GRCh37: 20:43251283-43251283
GRCh38: 20:44622642-44622642
49 ADA NM_000022.4(ADA):c.516C>A (p.Tyr172Ter) SNV Likely pathogenic 983781 GRCh37: 20:43252933-43252933
GRCh38: 20:44624292-44624292
50 ADA NM_000022.4(ADA):c.511A>T (p.Lys171Ter) SNV Likely pathogenic 983782 GRCh37: 20:43252938-43252938
GRCh38: 20:44624297-44624297

UniProtKB/Swiss-Prot genetic disease variations for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency:

72 (show all 27)
# Symbol AA change Variation ID SNP ID
1 ADA p.His15Asp VAR_002210 rs121908725
2 ADA p.Gly20Arg VAR_002211 rs121908724
3 ADA p.Gly74Cys VAR_002212 rs121908730
4 ADA p.Arg76Trp VAR_002213 rs121908736
5 ADA p.Ala83Asp VAR_002215 rs121908726
6 ADA p.Arg101Leu VAR_002216 rs121908714
7 ADA p.Arg101Trp VAR_002217 rs121908717
8 ADA p.Arg101Gln VAR_002218 rs121908714
9 ADA p.Leu107Pro VAR_002219 rs121908739
10 ADA p.Val129Met VAR_002220 rs121908731
11 ADA p.Gly140Glu VAR_002221 rs121908732
12 ADA p.Arg149Gln VAR_002223 rs121908737
13 ADA p.Arg149Trp VAR_002224 rs121908733
14 ADA p.Arg156Cys VAR_002226 rs121908735
15 ADA p.Arg156His VAR_002227 rs121908722
16 ADA p.Val177Met VAR_002228 rs121908719
17 ADA p.Ala179Asp VAR_002229 rs121908727
18 ADA p.Gln199Pro VAR_002230 rs121908734
19 ADA p.Arg211Cys VAR_002231 rs121908740
20 ADA p.Arg211His VAR_002232 rs121908716
21 ADA p.Ala215Thr VAR_002233 rs114025668
22 ADA p.Gly216Arg VAR_002234 rs121908723
23 ADA p.Pro274Leu VAR_002236 rs121908738
24 ADA p.Ser291Leu VAR_002237 rs121908721
25 ADA p.Pro297Gln VAR_002238 rs121908718
26 ADA p.Leu304Arg VAR_002239 rs199422327
27 ADA p.Ala329Val VAR_002240 rs121908715

Expression for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Search GEO for disease gene expression data for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency.

Pathways for Severe Combined Immunodeficiency, Autosomal Recessive, T...

GO Terms for Severe Combined Immunodeficiency, Autosomal Recessive, T...

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3 CDC
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