MCID: ADN001
MIFTS: 45

Adenosine Deaminase Deficiency malady

Categories: Genetic diseases, Rare diseases, Immune diseases

Aliases & Classifications for Adenosine Deaminase Deficiency

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Aliases & Descriptions for Adenosine Deaminase Deficiency:

Name: Adenosine Deaminase Deficiency 11 23 48 24 25 50 13 35 68
Ada Deficiency 23 48 24 25
Ada-Scid 23 48 25
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 48 25
Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency 48 68
Adenosine Deaminase Deficient Severe Combined Immunodeficiency 48 25
 
Severe Combined Immunodeficiency Due to Ada Deficiency 48 25
Scid Due to Ada Deficiency 48 25
Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease 24
Ada-Deficient Severe Combined Immunodeficiency Disease 24
Adenosine Deaminase 12
Ada 11

Classifications:



External Ids:

Disease Ontology11 DOID:5810
ICD1030 D81.3
NCIt45 C3962

Summaries for Adenosine Deaminase Deficiency

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NIH Rare Diseases:48 Adenosine deaminase deficiency (ADA) is an inherited condition that affects the immune system and typically leads to severe combined immunodeficiency (SCID). People with SCID have a reduced or absent immune response which leaves them vulnerable to frequent bacterial, viral, and fungal infections. Most people affected by ADA develop symptoms of the condition before 6 months of age. However, approximately 10-15% of affected people have a delayed onset of symptoms; diagnosis of these cases, which are often less severe, typically takes place later in childhood (often between age 1 and 10) or even into adulthood. Signs and symptoms of ADA include pneumonia, chronic diarrhea, widespread skin rashes, slowed growth and/or developmental delay. ADA is caused by changes (mutations) in the ADA gene and is inherited in an autosomal recessive manner. The most effective treatment is transplantation of blood-forming stem cells from the bone marrow of a healthy person.[8061 Last updated: 1/4/2015

MalaCards based summary: Adenosine Deaminase Deficiency, also known as ada deficiency, is related to cerebral lymphoma and adenosine deaminase 2 deficiency. An important gene associated with Adenosine Deaminase Deficiency is ADA (Adenosine Deaminase), and among its related pathways are Primary immunodeficiency and purine nucleotides de novo biosynthesis. Affiliated tissues include t cells, b cells and bone, and related mouse phenotypes are hematopoietic system and mortality/aging.

Disease Ontology:11 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.

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.

Wikipedia:71 Adenosine deaminase deficiency (also called ADA deficiency or ADA-SCID) is an autosomal... more...

GeneReviews for NBK1483

Related Diseases for Adenosine Deaminase Deficiency

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



Diseases related to adenosine deaminase deficiency

Symptoms & Phenotypes for Adenosine Deaminase Deficiency

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MGI Mouse Phenotypes related to Adenosine Deaminase Deficiency according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.5ADA, AHCY, GBA, IL2RG, ITPA
2MP:00107687.9ADA, ADK, AHCY, GBA, IL2RG, ITPA
3MP:00053887.6ADA, ADK, GBA, IL2RG, ITPA

Drugs & Therapeutics for Adenosine Deaminase Deficiency

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

(show all 18)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Adenosineapproved, investigationalPhase 3, Phase 1, Phase 239758-61-760961
Synonyms:
(2R,3R,4S,5R)-2-(6-Aminopurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3R,4S,5R)-2-(6-amino-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-delta-Ribofuranose
1odi
2fqy
2gl0
30143-02-3
4-Aminopyrazolo[3,4-d]pyrimidine ribonucleoside
46946-45-6
46969-16-8
58-61-7
6-Amino-9-.beta.-ribofuranosyl-9H-purine
6-Amino-9-beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-delta-ribofuranosyl-9H-purine
9-(beta-D-Arabinofuranosyl)adenine
9-beta-D-Arabinofuranosyladenine
9-beta-D-Ribofuranosidoadenine
9-beta-D-Ribofuranosyl-9H-purin-6-amine
9-beta-D-Ribofuranosyladenine
9-beta-delta-Arabinofuranosyladenine
9-beta-delta-Ribofuranosidoadenine
9-beta-delta-Ribofuranosyl-9H-purin-6-amine
9-beta-delta-Ribofuranosyladenine
9beta-D-Ribofuranosyladenine
9beta-D-ribofuranosyl-9H-Purin-6-amine
9beta-delta-Ribofuranosyladenine
9beta-delta-ribofuranosyl-9H-Purin-6-amine
A0152
A4036_SIGMA
A9251_SIGMA
AC1L1U8O
AC1Q1ID3
AC1Q52XU
ADN
AI3-52413
Ade-Rib
Ade-rib
Adenin riboside
Adenine 9-beta-D-arabinofuranoside
Adenine deoxyribonucleoside
Adenine nucleoside
Adenine riboside
Adenine-9-beta-D-ribofuranoside
Adenine-9beta-D-Ribofuranoside
Adenine-9beta-delta-Ribofuranoside
Adenocard
Adenocard (TN)
Adenocard, Adenosine
Adenocor
Adenoscan
Adenoscan (TN)
Adenosin
Adenosin [German]
Adenosina
Adenosine (JAN/USP)
Adenosine [USAN:BAN]
Adenosine, homopolymer
Adenosinum
Adensoine
Adenyldeoxyriboside
Ado
Adénosine
BB_NC-0565
BSPBio_001796
Bio1_000437
 
Bio1_000926
Bio1_001415
Boniton
C00212
CCRIS 2557
CHEBI:16335
CHEMBL477
CID60961
Caswell No. 010B
D000241
D00045
DB00640
Deoxyadenosine
Desoxyadenosine
EA6C60C2-6AFB-4264-A2F0-541373DB950E
EINECS 200-389-9
FT-0082881
HMS1920A13
HMS2091G13
KBio3_001296
LS-15085
MEDR-640
MLS000069638
MLS002153227
MolPort-001-838-229
Myocol
NCGC00023673-03
NCGC00023673-04
NCGC00023673-05
NCGC00023673-06
NCGC00023673-07
NSC 627048
NSC 7652
NSC627048
NSC7652
Nucleocardyl
Pallacor
Polyadenosine
Polyriboadenosine
S1647_Selleck
SDCCGMLS-0003108.P003
SMR000058216
SPBio_001194
SPECTRUM1500107
SR 96225
SR-96225
SUN-Y4001
Sandesin
Spectrum2_001257
Spectrum3_000288
TL8003749
UNII-K72T3FS567
USAF CB-10
V0098
Vidarabine
ZINC02169830
adenine-D-ribose
adenosine
b-D-Adenosine
beta-Adenosine
beta-D-Adenosine
beta-D-Ribofuranoside, adenine-9
beta-delta-Adenosine
bmse000061
nchembio.143-comp9
nchembio.186-comp109
nchembio.2007.56-comp13
nchembio.64-comp4
nchembio706-5
2
Busulfanapproved, investigationalPhase 2, Phase 154055-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
3Peripheral Nervous System AgentsPhase 1, Phase 222776
4Vasodilator AgentsPhase 1, Phase 23438
5Neurotransmitter AgentsPhase 1, Phase 217734
6Anti-Arrhythmia AgentsPhase 1, Phase 22969
7AnalgesicsPhase 1, Phase 211287
8AnestheticsPhase 1, Phase 29001
9
ZidovudineapprovedPhase 149430516-87-135370
Synonyms:
-Azido-3&prime
-deoxythymidine
1-(3-Azido-2,3-dideoxy-beta-D-ribofuranosyl)thymine
3&prime
3' Azido 2',3' Dideoxythymidine
3' Azido 3' deoxythymidine
3'-Azido-2',3'-Dideoxythymidine
3'-Azido-3'-deoxythymidine
3'-Azido-3'-deoxythymidine & Concanavalin A
3'-Azido-3'-deoxythymidine & Erythropoietin
3'-Azido-3'-deoxythymidine & Heteropolyoxotungstate PM-19
3'-Azido-3'-deoxythymidine & Interleukin-1
3'-Azido-3'-deoxythymidine & Interleukin-2
3'-Azido-3'-deoxythymidine & Interleukin-6
3'-Azido-3'-deoxythymidine & Lithium & Erythropoietin
3'-Azido-3'-deoxythymidine & Lithium & Interleukin-1
3'-Azido-3'-deoxythymidine & Lithium & Interleukin-6
3'-Azido-3'-deoxythymidine & Lymphoblastoid Interferon
3'-Azido-3'-deoxythymidine & Sho-Saiko-To
3'-Azido-3'-deoxythymidine (AIDS)
3'-Azido-3'deoxythymidine & Interferon .alpha.
3'-Azidothymidine
3'-Deoxy-3'-azidothymidine
3'-azido-3'-deoxythymidine, AZT
3-Azido-3-deoxythymidine
30516-87-1
399024-19-2
A2169_SIGMA
AC1L1TKL
AC1Q2OEK
AZT
AZT & CD4(178)-PE 40
AZT & Colony-stimulating factor 2
AZT & Concanavalin A (ConA)
AZT & EPO
AZT & GM-CSF
AZT & HPA
AZT & IFN.alpha.
AZT & IL-1
AZT & IL-2
AZT & IL-6
AZT & Interferon-.alpha.-2
AZT & Li & EPO
AZT & Li & GM-CSF
AZT & Li & IL-1
AZT & Li & IL-6
AZT & Lymphoblastoid Interferon
AZT & NP (from PHCA or HSA)
AZT & PM-19
AZT & SST
AZT & rIFN.alpha.2
AZT & rsCD4 & rIFN.alpha.A
AZT & rsT4
AZT & sCD4
AZT & srCD4
AZT (Antiviral)
AZT Antiviral
AZT TRANSPLACENTAL CARCINOGENESIS STUDY
AZT+PRO 140
AZT, Antiviral
Antiviral AZT
Apo-Zidovudine
Azidothymidine
Aztec
BB_NC-1012
BPBio1_000403
BRD-K72903603-001-04-6
BSPBio_000365
BSPBio_003153
BW A509U
BW-A 509U
BW-A-509U
BW-A509U
BWA 509U
BWA-509U
BWA509U
C07210
CCRIS 105
CHEBI:10110
CHEBI:127307
CHEMBL129
CID35370
 
CPD000058351
Compound S
Cpd S
D00413
D015215
DB00495
DRG-0004
DS-4152 & AZT
DivK1c_000524
HMS1921J20
HMS2090G11
HMS2092D06
HMS501K06
HSDB 6515
IDI1_000524
Interferon AD + 3'-azido-3'-deoxythymidine
Intron A & AZT
K7 [P Ti2 W10 O40]
KBio1_000524
KBio2_001828
KBio2_004396
KBio2_006964
KBio3_002653
KBioGR_000703
KBioSS_001828
LS-1159
Liposomal AZT-SN-1
Liposomal AZT-SN-3
MLS000028548
MLS001055351
MLS001076358
MLS002153202
MLS002222249
Met-SDF-1.beta. & AZT
Met-SDF-1.beta. & Zidovudine
MolPort-002-507-286
NCGC00023945-03
NCGC00023945-04
NCGC00023945-05
NCGC00023945-08
NCGC00178237-01
NCGC00178237-02
NINDS_000524
NSC 602670
Novo-Azt
PC-SOD+AZT
Prestwick3_000333
Propolis+AZT
Racemic Liposomal AZT
Retrovir
Retrovir (TN)
Retrovir(TM)
SAM002548971
SMR000058351
SN-1-dipalmitoylglycerophospho-AZT (in a lipid vesicle)
SN-3-dipalmitoylglycerophospho-AZT (in a lipid vesicle)
SPBio_000834
SPECTRUM1502109
STK801891
Spectrum2_000927
Spectrum3_001507
Spectrum4_000332
Spectrum5_001101
Spectrum_001348
UNII-4B9XT59T7S
ZDV
ZIDOVUDINE [AZT]
ZINC03779042
ZVD
Zidovudin
Zidovudina
Zidovudina [Spanish]
Zidovudine (JAN/USP/INN)
Zidovudine EP III
Zidovudine [USAN:INN:BAN:JAN]
Zidovudine+PRO 140
Zidovudinum
Zidovudinum [Latin]
antiviral
azidodeoxythymidine
rIFN-beta seron & AZT
racemic-dipalmitoylglycerophospho-AZT (in a lipid vesicle)
zidovudin
zidovudine
10Protein C115
11protein S20
12Thrombin288
13Immunoglobulins6045
14Factor VIII304
15Antibodies, Antiphospholipid29
16Antithrombin III665
17Antithrombins672
18Antibodies6045

Interventional clinical trials:

(show all 22)
idNameStatusNCT IDPhase
1EZN-2279 in Patients With ADA-SCIDRecruitingNCT01420627Phase 3
2Gene Therapy ADA DeficiencyCompletedNCT01279720Phase 1, Phase 2
3Gene Therapy for ADA-SCIDCompletedNCT00599781Phase 1, Phase 2
4MND-ADA Transduction of CD34+ Cells From Children With ADA-SCIDCompletedNCT00794508Phase 2
5Autologous Cryopreserved CD34+ Hematopoietic Cells Transduced With EFS-ADA Lentivirus for ADA SCIDRecruitingNCT02999984Phase 1, Phase 2
6Lentiviral Gene Therapy for Adenosine Deaminase (ADA) DeficiencyRecruitingNCT01380990Phase 1, Phase 2
7ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCIDActive, not recruitingNCT00598481Phase 2
8Autologous Transplant of EFS-ADA Modified Bone Marrow Cells for ADA-Deficient Severe Combined Immunodeficiency (SCID)Active, not recruitingNCT01852071Phase 1, Phase 2
9Imagery Rescripting in the Treatment of Post Traumatic Stress Disorder (PTSD) Following Early Chronic Interpersonal TraumaActive, not recruitingNCT01464892Phase 2
10Treatment 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 VectorCompletedNCT02022696Phase 1
11Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) DeficiencyCompletedNCT00018018Phase 1
12Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency: A Natural History StudyCompletedNCT00001255
13Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCIDCompletedNCT00006335
14Participation in a Research Registry for Immune DisordersRecruitingNCT01953016
15Natural History Study of SCID DisordersRecruitingNCT01186913
16Patients Treated for SCID (1968-2010)RecruitingNCT01346150
17The Role of Bacteria and Genetic Variations in Cystic FibrosisRecruitingNCT00043225
18Idiopathic CD4 LymphocytopeniaRecruitingNCT02113930
19Molecular and Clinical Studies of Primary Immunodeficiency DiseasesEnrolling by invitationNCT00006319
20Emergency Use of Adoptive Immunotherapy With CMV-Specific T Cells After Donor Bone Marrow Transplant of an Infant With Immunodeficiency Syndrome and CMV InfectionNo longer availableNCT00547235
21Comparative Prevalence of Psychiatric Manifestations in Purely Obstetrical Antiphospholipid SyndromeTerminatedNCT01649479
22Quality of Life and Neuropsychiatric Sequelae in Patients Treated With Gene Therapy for ADA-SCID and in Their ParentsWithdrawnNCT01182857

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Genetic Tests for Adenosine Deaminase Deficiency

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Genetic tests related to Adenosine Deaminase Deficiency:

id Genetic test Affiliating Genes
1 Adenosine Deaminase Deficiency24 ADA
2 Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease (scid)24

Anatomical Context for Adenosine Deaminase Deficiency

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MalaCards organs/tissues related to Adenosine Deaminase Deficiency:

36
T cells, B cells, Bone, Nk cells, Bone marrow, Testes, Liver

Publications for Adenosine Deaminase Deficiency

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Articles related to Adenosine Deaminase Deficiency:

(show top 50)    (show all 269)
idTitleAuthorsYear
1
Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency. (27129325)
2016
2
Medallion-Like Dermal Dendrocytic Hamartoma, Dermatofibrosarcoma Protuberans, and Adenosine Deaminase-Deficient Severe Combined Immunodeficiency. (27176810)
2016
3
Adenosine Deaminase Deficiency - More Than Just an Immunodeficiency. (27579027)
2016
4
Adenosine Deaminase Deficiency with a Novel Gene Mutation. (27086606)
2016
5
Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency. (26682746)
2015
6
Adenosine Deaminase Deficient Severe Combined Immunodeficiency Presenting as Atypical Haemolytic Uraemic Syndrome. (25875700)
2015
7
Outcomes in Two Japanese Adenosine Deaminase-Deficiency Patients Treated by Stem Cell Gene Therapy with No Cytoreductive Conditioning. (25875699)
2015
8
Neutropenia and myeloid dysplasia in a patient with delayed-onset adenosine deaminase deficiency. (23335557)
2013
9
Genetic and biochemical consequences of adenosine deaminase deficiency in humans. (24772956)
2013
10
Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency. (23280131)
2013
11
Preclinical Demonstration of Lentiviral Vector-mediated Correction of Immunological and Metabolic Abnormalities in Models of Adenosine Deaminase Deficiency. (24256635)
2013
12
Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency. (22805442)
2013
13
Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy. (23260757)
2013
14
Non-infectious lung disease in patients with adenosine deaminase deficient severe combined immunodeficiency. (22350222)
2012
15
Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency. (22409989)
2012
16
Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis. (22447032)
2012
17
Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. (22791287)
2012
18
Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans. (22968453)
2012
19
Pillars article: Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. The Lancet. 1972. 300: 1067-1069. (22262756)
2012
20
Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency. (25954555)
2012
21
Adenosine deaminase deficiency: unanticipated benefits from the study of a rare immunodeficiency. (22262755)
2012
22
Defective B cell tolerance in adenosine deaminase deficiency is corrected by gene therapy. (22622038)
2012
23
Severe combined immunodeficiency due to adenosine deaminase deficiency. (22764473)
2012
24
Autoimmune dysregulation and purine metabolism in adenosine deaminase deficiency. (22969765)
2012
25
Gene therapy for severe combined immunodeficiency due to adenosine deaminase deficiency. (22348551)
2012
26
Multicentric dermatofibrosarcoma protuberans in patients with adenosine deaminase-deficient severe combined immune deficiency. (22153773)
2012
27
Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis. (22578972)
2012
28
Hyperbilirubinemia and rapid fatal hepatic failure in severe combined immunodeficiency caused by adenosine deaminase deficiency (ADA-SCID). (21271505)
2011
29
Recombinant adeno-associated virus-mediated gene transfer for the potential therapy of adenosine deaminase-deficient severe combined immune deficiency. (21142972)
2011
30
Purine metabolism, immune reconstitution, and abdominal adipose tumor after gene therapy for adenosine deaminase deficiency. (21531016)
2011
31
Hematopoietic stem cell gene therapy for adenosine deaminase-deficient severe combined immunodeficiency leads to long-term immunological recovery and metabolic correction. (21865538)
2011
32
Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency. (21725047)
2011
33
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. (21057082)
2010
34
Gene therapy for adenosine deaminase deficiency. (20493400)
2010
35
Update on gene therapy for adenosine deaminase-deficient severe combined immunodeficiency. (20966749)
2010
36
Bone marrow transplantation and alternatives for adenosine deaminase deficiency. (20493398)
2010
37
Late-onset adenosine deaminase deficiency presenting with Heck's disease. (20039061)
2010
38
Development of gene therapy: potential in severe combined immunodeficiency due to adenosine deaminase deficiency. (24198507)
2009
39
Gene therapy for immunodeficiency due to adenosine deaminase deficiency. (19179314)
2009
40
Polyethylene glycol-modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency. (19665771)
2009
41
Hematopoietic stem cell gene therapy for adenosine deaminase deficient-SCID. (19224139)
2009
42
Progress in genetic therapy for severe combined immunodeficiency associated with adenosine deaminase deficiency. (19337228)
2009
43
Restoration of adenosine deaminase-deficient human thymocyte development in vitro by inhibition of deoxynucleoside kinases. (19018008)
2008
44
Adenosine deaminase deficiency can present with features of Omenn syndrome. (18243287)
2008
45
Adenosine deaminase deficiency associated severe combined immunodeficiency with disseminated varicella infection after vaccination: a case report]. (19099832)
2008
46
Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. (17185467)
2007
47
Neurologic abnormalities in patients with adenosine deaminase deficiency. (17765813)
2007
48
Autoimmune thyroiditis and acquired hypothyroidism in an infant with severe combined immunodeficiency due to adenosine deaminase deficiency. (17614781)
2007
49
Burkitt's lymphoma in a patient with adenosine deaminase deficiency-severe combined immunodeficiency treated with polyethylene glycol-adenosine deaminase. (17586199)
2007
50
Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006). (17300989)
2007

Variations for Adenosine Deaminase Deficiency

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Clinvar genetic disease variations for Adenosine Deaminase Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ADANM_000022.3(ADA): c.956_960delAAGAG (p.Glu319Glyfs)deletionLikely pathogenic, Pathogenicrs771266745GRCh37Chr 20, 43249674: 43249678
2ADANM_000022.3(ADA): c.320T> C (p.Leu107Pro)SNVPathogenicrs121908739GRCh37Chr 20, 43255139: 43255139
3ADANM_000022.3(ADA): c.646G> A (p.Gly216Arg)SNVPathogenicrs121908723GRCh37Chr 20, 43251680: 43251680
4ADANM_000022.3(ADA): c.986C> T (p.Ala329Val)SNV, CompoundHeterozygotePathogenicrs121908715GRCh37Chr 20, 43249032: 43249032

Expression for genes affiliated with Adenosine Deaminase Deficiency

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

Pathways for genes affiliated with Adenosine Deaminase Deficiency

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GO Terms for genes affiliated with Adenosine Deaminase Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of alpha-beta T cell differentiationGO:004663810.2ADA, PNP
2adenosine metabolic processGO:004608510.2ADA, ADK
3negative regulation of inflammatory responseGO:005072810.1ADA, GBA
4positive regulation of T cell proliferationGO:00421029.8ADK, PNP
5purine-containing compound salvageGO:00431019.2ADA, ADK, PNP

Sources for Adenosine Deaminase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet