CVID
MCID: CMM004
MIFTS: 68

Common Variable Immunodeficiency (CVID) malady

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

Aliases & Classifications for Common Variable Immunodeficiency

About this section
Sources:
11Disease Ontology, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 35LifeMap Discovery®, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Common Variable Immunodeficiency:

Name: Common Variable Immunodeficiency 35 11 48 25 54 50 39 13 68
Cvid 11 48 24 25 54
Common Variable Immune Deficiency 48 24 25
Idiopathic Immunoglobulin Deficiency 48 54
Immunodeficiency, Common Variable 25 27
Acquired Hypogammaglobulinemia 11 68
Primary Hypogammaglobulinemia 48 54
Primary Antibody Deficiency 48 54
 
Common Variable Hypogamma-Globulinemia 48
Common Variable Hypogammaglobulinemia 25
Immunoglobulin Deficiency, Late-Onset 48
Combined Variable Immune Deficiency 24
Common Variable Agammaglobulinemia 11
Hypogamma-Globulinemia, Acquired 48
Sporadic Hypogammaglobulinemia 11
Acquired Agammaglobulinemia 11

Characteristics:

Orphanet epidemiological data:

54
common variable immunodeficiency:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/100000; Age of onset: All ages

Classifications:



External Ids:

Disease Ontology11 DOID:12177
ICD1030 D83, D83.9
ICD9CM32 279.06
MeSH39 D017074
SNOMED-CT62 191010004, 23238000
Orphanet54 ORPHA1572
MESH via Orphanet40 D017074
ICD10 via Orphanet31 D83.0, D83.9, D83.1 D83.2, D83.8, more
UMLS via Orphanet69 C0009447

Summaries for Common Variable Immunodeficiency

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NIH Rare Diseases:48 Common variable immunodeficiency (cvid) is a group of disorders in which the immune system cannot make antibodies against agents that cause infection (such as bacteria). cvid is characterized by low levels of most or all of the immunoglobulin (ig) classes. this causes affected people to get frequent infections, particularly in the sinuses, lungs, and digestive tract. symptoms most commonly begin in early adulthood but have been found in children as young as age two. while in most cases the cause of cvid is unknown, it has been associated with changes (mutations) in at least 10 genes. about 10% of cases are due to mutations in the tnfrsf13b gene. treatment for cvid includes ig replacement therapy, which stops the cycle of recurrent infections. last updated: 3/14/2016

MalaCards based summary: Common Variable Immunodeficiency, also known as CVID, is related to cutaneous polyarteritis nodosa and immunodeficiency, common variable, 10, and has symptoms including Array, Array and Array. An important gene associated with Common Variable Immunodeficiency is TNFRSF13C (TNF Receptor Superfamily Member 13C), and among its related pathways are Interleukin-1 processing and Dendritic Cells Developmental Lineage Pathway. Affiliated tissues include b cells, lung and t cells, and related mouse phenotypes are liver/biliary system and homeostasis/metabolism.

Genetics Home Reference:25 Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinal tract, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas.

Disease Ontology:11 A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM).

Wikipedia:71 Common variable immunodeficiency (CVID) is an immune disorder characterized by recurrent infections and... more...

Related Diseases for Common Variable Immunodeficiency

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

(show top 50)    (show all 296)
idRelated DiseaseScoreTop Affiliating Genes
1cutaneous polyarteritis nodosa29.9CD40LG, CD79A
2immunodeficiency, common variable, 1011.8
3cd19-related common variable immune deficiency11.2
4cr2-related common variable immune deficiency11.2
5icos-related common variable immune deficiency11.2
6tnfrsf13b-related common variable immune deficiency11.2
7tnfrsf13c-related common variable immune deficiency11.2
8autoimmune lymphoproliferative syndrome, type iii11.1
9familial cold autoinflammatory syndrome 311.1
10immunodeficiency-centromeric instability-facial anomalies syndrome 111.1
11immunodeficiency, common variable, 110.9
12lymphoproliferative syndrome, x-linked, 110.8
13lymphoproliferative syndrome, x-linked, 210.8
14selective iga deficiency disease10.8
15immunodeficiency, common variable, 1210.7
16immunodeficiency, common variable, 8, with autoimmunity10.7
17bronchiectasis with or without elevated sweat chloride 210.7
18bronchiectasis with or without elevated sweat chloride 110.7
19bronchiectasis with or without elevated sweat chloride 310.7
20immunoglobulin g deficiency10.7
21primary melanoma of the central nervous system10.5TNFRSF13B, TNFRSF13C
22otulipenia10.5TNFRSF13B, TNFRSF13C, TNFSF13B
23alcoholic neuropathy10.4CD40LG, CD79A
24camptodactyly vertebral fusion10.4CD40LG, CD79A
25hyperparathyroidism, primary, caused by water clear cell hyperplasia10.4CD40LG, TNFSF13B
26lung combined large cell neuroendocrine carcinoma10.4CD40LG, IL2, IL4
27good syndrome10.4CD40LG, CD79A, TNFRSF13B
28hemangioma of orbit10.4CD40LG, CD79A, IL2
29tuberculosis10.4CD40LG, IL2, IL4
30spinal polio10.4CD40LG, CD79A
31alkhurma hemorrhagic fever10.4CD40LG, CD79A, IL4
32myiasis10.4CD40LG, IL2, IL4
33cutaneous ganglioneuroma10.4CD40LG, CD79A, IL4
34gestational diabetes10.4CD40LG, CD79A, SH2D1A
35rabies10.4CD40LG, CD79A
36abducens nerve disease10.4CD40LG, CD79A, TNFSF13B
37unilateral retinoblastoma10.4CD40LG, CD79A
38clostridium difficile colitis10.4CD79A, IL2, IL4
39mesangial proliferative glomerulonephritis10.4CD40LG, CD79A
40intermediate autosomal osteopetrosis10.4ICOS, NFKB2
41gonadal disease10.4CD79A, IL2, IL4
42intravascular angioleiomyoma10.4CD40LG, CD79A, IL4
43colonic benign neoplasm10.4CD27, CD40LG, CD79A
44oral cavity cancer10.4CD40LG, CD79A, IL4
45squamous cell papilloma of skin10.4CD40LG, CD79A, IL2
46delta chain disease10.4CD40LG, CD79A
47newcastle disease10.4CD40LG, CD79A, IL2
48barbiturate abuse10.4CD40LG, CD79A, IL4
49multinodular goiter10.4CD40LG, CD79A, IL2
50hypertrophic elongation of cervix10.4CD40LG, CD79A, IL4

Graphical network of the top 20 diseases related to Common Variable Immunodeficiency:



Diseases related to common variable immunodeficiency

Symptoms & Phenotypes for Common Variable Immunodeficiency

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Human phenotypes related to Common Variable Immunodeficiency:

 54 64 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachycephaly64 54 Very frequent (99-80%) HP:0000248
2 otitis media54 Very frequent (99-80%)
3 chronic otitis media64 54 Very frequent (99-80%) HP:0000389
4 purpura64 54 Frequent (79-30%) HP:0000979
5 abnormality of the liver54 Frequent (79-30%)
6 failure to thrive in infancy64 54 Occasional (29-5%) HP:0001531
7 splenomegaly64 54 Frequent (79-30%) HP:0001744
8 hemolytic anemia64 54 Frequent (79-30%) HP:0001878
9 lymphopenia64 54 Very frequent (99-80%) HP:0001888
10 autoimmune thrombocytopenia64 54 Very frequent (99-80%) HP:0001973
11 anal atresia64 54 Frequent (79-30%) HP:0002023
12 pneumonia64 54 Very frequent (99-80%) HP:0002090
13 restrictive lung disease54 Occasional (29-5%)
14 emphysema64 54 Occasional (29-5%) HP:0002097
15 bronchiectasis64 54 Frequent (79-30%) HP:0002110
16 recurrent respiratory infections54 Very frequent (99-80%)
17 vasculitis64 54 Occasional (29-5%) HP:0002633
18 lymphoma64 54 Occasional (29-5%) HP:0002665
19 lymphadenopathy64 54 Frequent (79-30%) HP:0002716
20 immunodeficiency64 54 Very frequent (99-80%) HP:0002721
21 arthralgia64 54 Occasional (29-5%) HP:0002829
22 recurrent bronchitis64 54 Very frequent (99-80%) HP:0002837
23 elevated hepatic transaminases64 54 Frequent (79-30%) HP:0002910
24 decreased antibody level in blood64 54 Very frequent (99-80%) HP:0004313
25 posterior pharyngeal cleft64 54 Occasional (29-5%) HP:0006783
26 gastrointestinal stroma tumor64 54 Occasional (29-5%) HP:0100723
27 restrictive ventilatory defect64 HP:0002091

MGI Mouse Phenotypes related to Common Variable Immunodeficiency according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537010.5CD19, CD79A, IL2, IL4, NFKB1, NFKB2
2MP:000537610.0BTK, CD19, CD40LG, CD79A, CD81, CR2
3MP:00053679.8CD19, CD40LG, CD79A, CR2, IL4, NFKB2
4MP:00053979.5BTK, CD19, CD27, CD40LG, CD79A, CD81
5MP:00053879.4BTK, CD19, CD27, CD40LG, CD79A, CD81

Drugs & Therapeutics for Common Variable Immunodeficiency

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

(show top 50)    (show all 96)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Rivastigmineapproved, investigationalPhase 483123441-03-277991
Synonyms:
(S)-3-(1-(Dimethylamino)ethyl)phenyl ethylmethylcarbamate
123441-03-2
3-((1S)-1-(Dimethylamino)ethyl)phenyl N-ethyl-N-methylcarbamate
3-((1S)-1-(Dimethylamino)ethyl)phenyl ethylmethylcarbamate
3-[(1S)-1-(dimethylamino)ethyl]phenyl ethyl(methyl)carbamate
AB1004572
AC1L2U92
BIDD:GT0316
C11766
CHEMBL636
CID77991
Carbamic acid, N-ethyl-N-methyl-, 3-[(1S)-1-(dimethylamino)ethyl]phenyl ester
Carbamic acid, ethylmethyl-, 3-((1S)-1-(dimethylamino)ethyl)phenyl ester
D03822
DB00989
ENA 713 free base
 
Ena 713 Free Base
Ethylmethylcarbamic acid 3-((1S)-1-(dimethylamino)ethyl)phenyl ester
Exelon
Exelon Patch
HMS2089H18
I06-2037
LS-172571
MolPort-003-666-662
NCGC00167531-01
Rivastigmine (JAN/USAN/INN)
Rivastigmine Hydrogen Tartrate
Rivastigmine [USAN:INN]
Rivastigmine hydrogen tartrate
SDZ 212-713
UNII-PKI06M3IW0
[3-[(1S)-1-(dimethylamino)ethyl]phenyl] N-ethyl-N-methylcarbamate
m-((S)-1-(Dimethylamino)ethyl)phenyl ethylmethylcarbamate
rivastigmine
2
Rifaximinapproved, investigationalPhase 410680621-81-46436173
Synonyms:
(2S,16Z,18E,20S,21S,22R,23R,24R,25S,26S,27S,28E)-5,6,21,23,25 Pentahydroxy-27-methoxy-2,4,11,16,20,22,24,26-octamethyl-2,7-(epoxypentadeca(1,11,13)trienimino)benzofuro(4,5-e)pyrido(1,2-a)benzimidazole-1,15(2H)-dione, 25-acetate
4-Deoxy-4'-methylpyrido(1',2'-1,2)imidazo(5,4-c)rifamycin SV
4-deoxy-4'-methylpyrido(1',2'-1,2)imidazo(5,4C)rifamycin
80621-81-4
88747-56-2
AC-19112
BRN 3584528
Bio-0556
C43H51N3O11
CHEMBL1617
D02554
DB01220
Fatroximin
Flonorm
L 105
L 105 (Ansamacrolide antibiotic)
L 105SV
LS-178059
LS-64147
Lormyx
Lumenax
MLS000759430
Normix
RedActiv
 
Rifacol
Rifamixin
Rifamycin L 105
Rifamycin L 105SV
Rifaxidin
Rifaximin
Rifaximin (USAN/INN)
Rifaximin [USAN:INN]
Rifaximina
Rifaximina [Spanish]
Rifaximine
Rifaximine [French]
Rifaximinum
Rifaximinum [Latin]
Rifaximinun
Rifaxin
Ritacol
S1790_Selleck
SMR000466324
Spiraxin
UNII-L36O5T016N
Xifaxan
Xifaxan, Rifacol, Fatroximin, Rifaximin
Xifaxsan
Xifaxsan (TN)
alpha-0817185
3ImmunoglobulinsPhase 4, Phase 36394
4AntibodiesPhase 4, Phase 36394
5Lithium carbonatePhase 4240554-13-2
6Cholinesterase InhibitorsPhase 4592
7Cholinergic AgentsPhase 43992
8Central Nervous System DepressantsPhase 413403
9Psychotropic DrugsPhase 46430
10Neuroprotective AgentsPhase 41716
11Neurotransmitter AgentsPhase 418340
12Antimanic AgentsPhase 4814
13Anti-Bacterial AgentsPhase 411226
14Protective AgentsPhase 47443
15Tranquilizing AgentsPhase 44265
16rifamycin SVPhase 4103
17Nucleic Acid Synthesis InhibitorsPhase 44962
18Anti-Infective AgentsPhase 4, Phase 222062
19Antidepressive AgentsPhase 42736
20RifamycinsPhase 4103
21Gastrointestinal AgentsPhase 48402
22Rho(D) Immune GlobulinPhase 4, Phase 3326
23Immunoglobulin GPhase 4, Phase 3275
24Immunoglobulins, IntravenousPhase 4, Phase 3333
25gamma-GlobulinsPhase 4, Phase 3326
26Pharmaceutical SolutionsPhase 3, Phase 28192
27
Sirolimusapproved, investigationalPhase 2194053123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
28
Pentostatinapproved, investigationalPhase 25553910-25-140926, 439693
Synonyms:
(8R)-3-(2-deoxy-beta-D-erythro-pentofuranosyl)-3,6,7,8-tetrahydroimidazo[4,5-d][1,3]diazepin-8-ol
(8R)-3-[(2R,4S,5R)-4-hydroxy-5-(hydroxymethyl)oxolan-2-yl]-7,8-dihydro-4H-imidazo[4,5-d][1,3]diazepin-8-ol
(R)-3-(2-Deoxy-.beta.-D-erythro-pentofuranosyl)-3,6,7,8-tetrahydroimidazo(4,5-d)(1,3)diazepin-8-ol
2'-DCF
2'-Deoxycoformycin
2'-Dexoycoformycin
53910-25-1
59979-24-7
AC1L97UQ
BIDD:GT0136
C02267
CHEBI:41829
CHEMBL1580
CI-825
CID439693
CL-67310465
CO-Vidarabine
Co-V
 
Co-vidarabine
Coforin
Covidarabine
D00155
DB00552
Deoxycoformycin
Nipent
Nipent (TN)
Oncopent
PD-81565
PD-ADI
Pentostatin
Pentostatin (JAN/USAN/INN)
Pentostatina
Pentostatine
Pentostatinum
Vidarbine
Vira A deaminase inhibitor
dCF
pentostatin
29
alemtuzumabapproved, investigationalPhase 2310216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
30
ThiotepaapprovedPhase 222652-24-45453
Synonyms:
 
Thioplex
31
Mycophenolic acidapprovedPhase 295224280-93-1446541
Synonyms:
(e)-6-(4-Hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoic acid
Acide mycophenolique
Acido micofenolico
Acidum mycophenolicum
 
Melbex
Micofenolico acido
Mycophenoic acid
Mycophenolate
Mycophenolsäure
Myfortic
32
MelphalanapprovedPhase 2729148-82-34053, 460612
Synonyms:
(2S)-2-amino-3-[4-[bis(2-chloroethyl)amino]phenyl]propanoic acid
(2s)-2-amino-3-(4-[bis(2-chloroethyl)amino]phenyl)propanoic acid
148-82-3
3-(P-(Bis(2-chloroethyl)amino)phenyl)-L-alanine
3-(p-(Bis(2-chloroethyl)amino)phenyl)-L-alanine
3-(p-(Bis(2-chloroethyl)amino)phenyl)alanine
3-P-(Di(2-chloroethyl)amino)-phenyl-L-alanine
3-p-(Di(2-chloroethyl)amino)-phenyl-L-alanine
3025 C.B.
3025 c.b
3223-07-2
4-(Bis(2-chloroethyl)amino)-L-phenylalanine
4-14-00-01689 (Beilstein Handbook Reference)
4-[Bis(2-chloroethyl)amino]-L-phenylalanine
4-[Bis-(2-chloroethyl)amino]-L-phenylalanine
AC1LA2OE
ALKERAN (TN)
AY3360000
Alanine Nitrogen Mustard
Alkeran
AmbotzHAA1563
At-290
BIDD:GT0044
BRD-K87827419-001-02-8
BRN 2816456
BSPBio_002407
C13H18Cl2N2O2
CB 3025
CB-3025
CCRIS 374
CHEBI:165415
CHEBI:28876
CHEMBL852
CID460612
D00369
DivK1c_000653
EINECS 205-726-3
HMS2090B09
HMS2091B16
HMS502A15
HSDB 3234
IDI1_000653
KBio1_000653
KBio2_000877
KBio2_003445
KBio2_006013
KBio3_001627
KBioGR_001284
KBioSS_000877
L-3-(P-(Bis(2-chloroethyl)amino)phenyl)alanine
L-3-(p-(Bis(2-chloroethyl)amino)phenyl)alanine
L-3-(para-(Bis(2-chloroethyl)amino)phenyl)alanine
L-PAM
L-Phenylalanine mustard
L-Sarcolysin
L-Sarcolysine
L-Sarkolysin
LS-15868
LS-865
 
Levofalan
Levofolan
Levopholan
M2011_SIGMA
MELPHALAN (SEE ALSO TRANSGENIC MODEL EVALUATION (MELPHALAN))
MLS001333666
MLS002153368
Melfalan
Melfalano
Melfalano [INN-Spanish]
Melphalan (JP15/USP/INN)
Melphalan [USAN:INN:BAN:JAN]
Melphalanum
Melphalanum [INN-Latin]
Mephalan
MolPort-003-665-535
NCGC00090757-01
NCGC00090757-02
NCGC00090757-03
NCI-C04853
NINDS_000653
NIOSH/AY3360000
NSC 241286
NSC 8806
NSC-8806
NSC241286
NSC8806
P-Di-(2-chloroethyl)amino-L-phenylalanine
P-L-Sarcolysin
P-N-Bis(2-chloroethyl)amino-L-phenylalanine
Phenylalanine mustard
Phenylalanine nitrogen mustard
Prestwick_1006
RCRA waste no. U150
Rcra waste number U150
SK-15673
SMP2_000174
SMR000058720
SPBio_000287
SPECTRUM1500382
Sarcolysine
Sarkolysin
Spectrum2_000074
Spectrum3_000684
Spectrum4_000882
Spectrum5_001601
Spectrum_000397
TL8001065
TRANSGENIC LEP (MELPHALAN) (SEE ALSO MELPHALAN)
TRANSGENIC MODEL EVALUATION (MELPHALAN)
UNII-Q41OR9510P
melphalan
p-Bis(beta-chloroethyl)aminophenylalanine
p-Di-(2-chloroethyl)amino-L-phenylalanine
p-L-Sarcolysin
p-L-sarcolysine
p-N,N-bis(2-chloroethyl)amino-L-phenylalanine
p-N-Bis(2-chloroethyl)amino-L-phenylalanine
p-N-Di(chloroethyl)aminophenylalanine
p-N-di(chloroethyl)aminophenylala nine
phenylalanine nitrogen mu stard
33
FludarabineapprovedPhase 2115421679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ARAA
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-fluoro ARA-A
21679-14-1
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
Fludara, Fludarabine
 
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
34
EverolimusapprovedPhase 21940159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
Zortress
everolimus
35
Mycophenolate mofetilapproved, investigationalPhase 2952128794-94-55281078
Synonyms:
115007-34-6
128794-94-5
140401-05-4
2-Morpholinoethyl (4E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (e)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-morpholin-4-ylethyl (4E)-6-[4-hydroxy-7-methyl-6-(methyloxy)-3-oxo-1,3-dihydro-2-benzofuran-5-yl]-4-methylhex-4-enoate
2-morpholin-4-ylethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enoate
4-Hexenoic acid, 6-(1,3-dihydro-4-hydroxy-6-methoxy-7-methyl -3-oxo-5-isobenzofuranyl)-4-methyl-, 2-(4-morpholinyl)ethyl ester, (4E)
AC-1562
AC1NQXZW
AC1Q6O6X
AR-1J6939
BB_NC-2566
C07908
C23H31NO7
CHEMBL1456
CID5281078
CellCept
CellCept, RS 61443, TM-MMF, Mycophenolate mofetil
Cellcept
Cellcept (TN)
D00752
DB00688
HMS2090A03
 
HSDB 7436
I01-0898
I06-1947
LS-172272
LS-75572
ME-MPA
MMF
MMF CellCept(TM)
MolPort-000-883-800
Munoloc
Mycophenolate mofetil (JAN/USAN)
Mycophenolic acid morpholinoethyl ester
Mycophenylate mofetil
NCGC00159459-02
NCGC00159459-03
NSC724229
R-99
RS 61443
RS-61443
RS-61443-190
S1501_Selleck
TL8000648
TM-MMF
UNII-9242ECW6R0
ZINC21297660
mycophenolate mofetil
36
Busulfanapproved, investigationalPhase 254555-98-12478
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)
37
Ustekinumabapproved, investigationalPhase 1, Phase 288815610-63-0
Synonyms:
 
Stelera
38
Cyclophosphamideapproved, investigationalPhase 2293550-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
39
Peginterferon alfa-2aapproved, investigationalPhase 2565198153-51-45360545
Synonyms:
198153-51-4
D02747
Pegasys
Pegasys (TN)
 
Peginterferon alfa-2a
Peginterferon alfa-2a (USAN/INN)
Peginterferon alfa-2a (genetical recombination)
Peginterferon alfa-2a (genetical recombination) (JAN)
Pegylated interferon alfa-2a
Pegylated interferon alpha2a
40Interleukin-12Phase 1, Phase 2133
41Antiviral AgentsPhase 29967
42Antirheumatic AgentsPhase 210956
43VaccinesPhase 26611
44Dermatologic AgentsPhase 1, Phase 25806
45Immunosuppressive AgentsPhase 213086
46AntimetabolitesPhase 212054
47Antimetabolites, AntineoplasticPhase 27361
48Antineoplastic Agents, AlkylatingPhase 24603
49Alkylating AgentsPhase 24827
50interferonsPhase 22175

Interventional clinical trials:

(show all 43)
idNameStatusNCT IDPhase
1The Rifaximin Study in CVIDCompletedNCT01946906Phase 4
2Efficacy and Safety of Vivaglobin® in Previously Untreated Patients With Primary ImmunodeficiencyCompletedNCT00520494Phase 4
3A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary ImmunodeficiencyCompletedNCT01289847Phase 4
4Efficacy and Safety of Two Pharmacologic Strategies on Neurocognitive Impairment in HIV Infection. The TRIANT-TE StudyCompletedNCT01348282Phase 4
5A Multi-centre Open Study to Assess the Safety and Efficacy of Subgam®CompletedNCT02247141Phase 3
6Efficacy and Safety of Intravenous Immunoglobulin IVIG-F10 in Patients With Primary Immunodeficiencies (PID)CompletedNCT00168012Phase 3
7Efficacy and Safety of Intravenous Immunoglobulin IgPro10 in Patients With Primary Immunodeficiencies (PID)CompletedNCT00168025Phase 3
8Safety and Efficacy of Intravenous Immunoglobulin IgPro10 in Patients With Primary Immunodeficiencies (PID)CompletedNCT00322556Phase 3
9Study of Subcutaneous Immune Globulin in Patients Requiring IgG Replacement TherapyCompletedNCT00542997Phase 3
10Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency DiseasesCompletedNCT01963143Phase 3
11Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases.CompletedNCT00278954Phase 3
12Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency PatientsCompletedNCT00220766Phase 3
13A Clinical Study of Intravenous ImmunoglobulinCompletedNCT00468273Phase 3
14Pharmacokinetics (PK) and Safety of Subgam-VF in Primary Immunodeficiency DiseasesActive, not recruitingNCT01884311Phase 3
15Study of Safety, Tolerability, and Efficacy of Ustekinumab for Symptomatic Gastrointestinal Inflammation Associated With Common Variable ImmunodeficiencyRecruitingNCT02199496Phase 1, Phase 2
16Pilot Trial of Allogeneic Blood or Marrow Transplanation for Primary ImmunodeficienciesRecruitingNCT02579967Phase 2
17Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency DiseasesRecruitingNCT01852370Phase 1, Phase 2
18Immune Disorder HSCT ProtocolRecruitingNCT01821781Phase 2
19Clinical and Virological Efficacy of Pegylated Interferon Alpha in the Treatment of Rhinovirus Infection in Patients With Primary Hypogammaglobulinemia: Randomized Controlled TrialNot yet recruitingNCT02661477Phase 2
20"Prime Boost" Vaccination Strategy Combining Conjugated Anti- Pneumococcal Vaccine (s0) and Polysaccharide Anti- Pneumococcal Vaccine (s4) Compared to Polysaccharide Anti- Pneumococcal Vaccine Alone (s4) In Patients With Common Variable ImmunodeficiencyTerminatedNCT01489618Phase 2
21Clinical Trial to Assess the Efficacy of Rituximab and Azathioprine in the Treatment of Granulomatous and Lymphocytic Interstitial Lung Disease (GLILD) in Adult Patients With Common Variable Immunodeficiency (CVID)WithdrawnNCT02789397Phase 2
22STA-5326 Meslylate to Treat Gut Inflammation Associated With Common Variable ImmunodeficiencyCompletedNCT00263237Phase 1
23B-Lymphocyte Stimulator (BLyS) To Treat Selective IgA DeficiencyCompletedNCT00024934Phase 1
24Multivirus-specific Cytotoxic T Lymphocytes (mCTL)RecruitingNCT02510404Phase 1
25Lymphocyte Immunophenotyping in Common Variable ImmunodeficiencyUnknown statusNCT01196702
26Immune System and Gut Abnormalities in Patients With Common Variable Immunodeficiency With and Without Gastrointestinal SymptomsCompletedNCT00015431
27Randomized Study of Polyethylene-Glycol-Conjugated Interleukin 2 in Patients With Common Variable ImmunodeficiencyCompletedNCT00004695
28Specific IgG Antibody in Patients With Primary Antibody Deficiencies Treated With Subcutaneous ImmunoglobulinCompletedNCT00661401
29Construction of a Health-related Quality of Life (HR-QOL) Questionnaire for Patients With Primary Antibody Deficiency DiseaseCompletedNCT02542228
30Study of Bone Disease in Older HIV-infected AdultsCompletedNCT00935935
31Text Messaging Intervention to Improve HIV Adherence in Rural Drug UsersCompletedNCT01343654
32Immune Regulation in Patients With Common Variable Immunodeficiency and Related SyndromesRecruitingNCT00001244
33Natural History of BronchiectasisRecruitingNCT00943514
34Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation DisordersRecruitingNCT00895271
35Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and OlderRecruitingNCT02960399
36Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune DeficienciesRecruitingNCT01652092
37Gamma Globulin Observations and Outcomes Database for Patients With Primary Immunodeficiency Disease (GOOD-SHEPARD-PI)RecruitingNCT01883921
38My Smart Age With HIV: Smartphone Self-assessment of FrailtyRecruitingNCT02663856
39Investigation of Immune Disorders and DeficienciesActive, not recruitingNCT01981785
40Molecular and Clinical Studies of Primary Immunodeficiency DiseasesEnrolling by invitationNCT00006319
41Improving the Diagnosis of Common Variable Immune DeficiencyNot yet recruitingNCT02680652
42Studies of Disorders in Antibody Production and Related Primary Immunodeficiency StatesTerminatedNCT00266513
43Allogeneic Bone Marrow Transplantation in Patients With Primary ImmunodeficienciesTerminatedNCT00006054

Search NIH Clinical Center for Common Variable Immunodeficiency

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Common Variable Immunodeficiency cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Common Variable Immunodeficiency:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Embryonic/Adult Cultured Cells Related to Common Variable Immunodeficiency:
Umbilical cord blood ALDH+ cells (ALD-151), PMID: 10430905


Cochrane evidence based reviews: common variable immunodeficiency

Genetic Tests for Common Variable Immunodeficiency

About this section

Genetic tests related to Common Variable Immunodeficiency:

id Genetic test Affiliating Genes
1 Common Variable Immunodeficiency27
2 Common Variable Immune Deficiency24 TNFRSF13C

Anatomical Context for Common Variable Immunodeficiency

About this section

MalaCards organs/tissues related to Common Variable Immunodeficiency:

36
B cells, Lung, T cells, Spleen, Lymph node, Liver, Bone

Publications for Common Variable Immunodeficiency

About this section

Articles related to Common Variable Immunodeficiency:

(show top 50)    (show all 768)
idTitleAuthorsYear
1
Lack of Clinical Hypersensitivity to Penicillin Antibiotics in Common Variable Immunodeficiency. (27873106)
2017
2
Increase of circulating I+4I^7(+) conventional memory CD4 and regulatory T cells in patients with common variable immunodeficiency (CVID). (28323147)
2017
3
Defective IL-4 signaling in T cells defines severe common variable immunodeficiency. (28476239)
2017
4
Can we effectively use radiographic imaging and clinical parameters for making an earlier diagnosis of granulomatous interstitial lung disease in patients with common variable immunodeficiency? (28477784)
2017
5
Successful treatment of Common Variable Immunodeficiency-associated inflammatory bowel disease with Ustekinumab. (28333242)
2017
6
Chitotriosidase enzyme activity: is this a possible chronic inflammation marker in children with common variable immunodeficiency and early atherosclerosis? (27705887)
2017
7
Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia. (28054583)
2017
8
Secondary Amenorrhea in a Patient with Common Variable Immunodeficiency. (28485330)
2017
9
Predictors of granulomatous lymphocytic interstitial lung disease in common variable immunodeficiency. (28254202)
2017
10
Follicular T Cells from smB(-) Common Variable Immunodeficiency Patients Are Skewed Toward a Th1 Phenotype. (28289412)
2017
11
Infliximab as treatment of severe enteropathy in a patient with common variable immunodeficiency and cytomegalovirus infection. (28476306)
2017
12
Common Variable Immunodeficiency Caused by FANC Mutations. (28493158)
2017
13
Vaccine Associated Paralytic Poliomyelitis Unmasking Common Variable Immunodeficiency. (28361789)
2017
14
Epidemiology and pathophysiology of malignancy in common variable immunodeficiency? (28411962)
2017
15
British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders. (28351785)
2017
16
Limited role of interferon-kappa (IFNK) truncating mutations in common variable immunodeficiency. (28324805)
2017
17
Identification and characterization of a nationwide Danish adult common variable immunodeficiency cohort. (28370285)
2017
18
Erratum: Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia. (28240280)
2017
19
FDG PET-CT imaging of therapeutic response in granulomatous lymphocytic interstitial lung disease (GLILD) in common variable immunodeficiency (CVID). (27896807)
2017
20
Adults with common variable immunodeficiency: a single-center experience. (28263469)
2017
21
Abnormality of regulatory T cells in common variable immunodeficiency. (28284485)
2017
22
Posterior Cord Syndrome and Trace Elements Deficiency as an Uncommon Presentation of Common Variable Immunodeficiency. (28356913)
2017
23
The role of genomics in common variable immunodeficiency disorders. (28236292)
2017
24
Assessing Quality of Life in Patients with Common Variable Immunodeficiency: Why It Matters. (27836063)
2016
25
Early and late B-cell developmental impairment in nuclear factor kappa B, subunit 1-mutated common variable immunodeficiency disease. (27555455)
2016
26
The B-cell compartment in antibody-deficient infants and young children - developing common variable immunodeficiency or transient immune maturation? (27461226)
2016
27
Autoimmunity and infection in common variable immunodeficiency (CVID). (27392505)
2016
28
Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder. (27016798)
2016
29
Common Variable Immunodeficiency and Circulating TFH. (27069935)
2016
30
A Cross-Sectional Study of the Prevalence of Gastrointestinal Symptoms and Pathology in Patients With Common Variable Immunodeficiency. (27527747)
2016
31
NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature. (27749582)
2016
32
Common variable immunodeficiency in adults requires reserved protocols for long-term follow-up. (27511507)
2016
33
T-cell abnormalities in common variable immunodeficiency: the hidden defect. (27153873)
2016
34
T-Cell Abnormalities in Common Variable Immunodeficiency. (27374799)
2016
35
Low Circulating Natural Killer Cell Counts are Associated With Severe Disease in Patients With Common Variable Immunodeficiency. (27211564)
2016
36
Spleen Histologic Appearance in Common Variable Immunodeficiency: Analysis of 17 Cases. (27158760)
2016
37
Early onset steroid induced posterior subcapsular cataract in a patient with common variable immunodeficiency: case reports and review of literature. (27608477)
2016
38
Impaired CD8(+) T cell responses upon Toll-like receptor activation in common variable immunodeficiency. (27188997)
2016
39
Chronic norovirus infection and common variable immunodeficiency. (27753065)
2016
40
IL-10-Producing Regulatory B Cells Are Decreased in Patients with Common Variable Immunodeficiency. (26991898)
2016
41
CHARGE Syndrome and Common Variable Immunodeficiency: a case report and review of literature. (27062223)
2016
42
Eosinophilic esophagitis diagnosed in a patient with common variable immunodeficiency. (27157654)
2016
43
Impaired Akt phosphorylation in B-cells of patients with common variable immunodeficiency. (27664934)
2016
44
Altered gut microbiota profile in common variable immunodeficiency associates with levels of lipopolysaccharide and markers of systemic immune activation. (26982597)
2016
45
Important Factors Influencing Severity of Common Variable Immunodeficiency. (27544362)
2016
46
Enhanced formation of giant cells in common variable immunodeficiency: Relation to granulomatous disease. (27856306)
2016
47
Patterns of constitutively phosphorylated kinases in B cells are associated with disease severity in common variable immunodeficiency. (27919819)
2016
48
Acute renal dysfunction caused by nonsucrose intravenous immunoglobulin in common variable immunodeficiency. (28024991)
2016
49
Diagnostic criteria for common variable immunodeficiency disorders. (27587325)
2016
50
Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency. (27379089)
2016

Variations for Common Variable Immunodeficiency

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Expression for genes affiliated with Common Variable Immunodeficiency

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Search GEO for disease gene expression data for Common Variable Immunodeficiency.

Pathways for genes affiliated with Common Variable Immunodeficiency

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Pathways related to Common Variable Immunodeficiency according to GeneCards Suite gene sharing:

(show top 50)    (show all 53)
idSuper pathwaysScoreTop Affiliating Genes
110.3NFKB1, NFKB2
210.2CD19, IL2, MS4A1
310.2IL2, NFKB1, NFKB2
4
Show member pathways
10.2IL2, NFKB1, NFKB2
5
Show member pathways
10.2IL2, NFKB1, NFKB2
610.2BTK, NFKB1, PRKCD
710.2IL2, NFKB1, PRKCD
810.2CD27, CD40LG, ICOS
910.2CD40LG, IL4, NFKB1
1010.2ICOS, IL2, IL4
1110.2CD19, CR2, NFKB1, NFKB2
12
Show member pathways
10.2IL2, IL4, NFKB1
1310.2IL2, IL4, NFKB1
1410.2IL2, IL4, NFKB1
15
Show member pathways
10.2CD40LG, IL2, IL4
1610.2CD40LG, IL2, IL4
1710.1IL2, NFKB1, NFKB2, TNFRSF13C
1810.1CD19, CR2, IL4, MS4A1
19
Show member pathways
10.1BTK, CD19, NFKB1, PRKCD
2010.1CD19, CD40LG, CD81, SH2D1A
21
Show member pathways
10.1BTK, NFKB1, NFKB2, PRKCD
22
Show member pathways
10.1IL2, NFKB1, NFKB2, PRKCD
23
Show member pathways
10.1CD40LG, IL2, NFKB1, NFKB2
24
Show member pathways
10.1IL2, IL4, NFKB1, NFKB2
25
Show member pathways
10.1IL2, IL4, NFKB1, NFKB2
26
Show member pathways
10.0BTK, CD19, CD79A, ICOS, NFKB1
27
Show member pathways
10.0CD40LG, ICOS, IL2, NFKB1, PRKCD
28
Show member pathways
10.0CD27, CD40LG, CR2, NFKB1, PRKCD
2910.0CD19, CD79A, IL2, IL4, MS4A1
30
Show member pathways
10.0CR2, NFKB1, NFKB2, TNFRSF13B, TNFRSF13C, TNFSF13B
31
Show member pathways
10.0CD40LG, NFKB1, NFKB2, TNFRSF13B, TNFSF12, TNFSF13B
329.9BTK, CD40LG, NFKB1, NFKB2, TNFRSF13C, TNFSF13B
33
Show member pathways
9.9CD27, CD40LG, TNFRSF13B, TNFRSF13C, TNFSF12, TNFSF13B
34
Show member pathways
9.9CD40LG, ICOS, IL2, IL4, NFKB1, PRKCD
359.9BTK, CD19, CD40LG, CD79A, ICOS, TNFRSF13B
369.9CD19, CD27, CD40LG, CR2, ICOS, MS4A1
37
Show member pathways
9.9BTK, CD19, CD79A, CD81, CR2, NFKB1
38
Show member pathways
9.8CD40LG, IL2, NFKB1, NFKB2, PRKCD, TNFRSF13C
399.8BTK, CD40LG, IL2, IL4, TNFSF12, TNFSF13B
40
Show member pathways
9.8CD40LG, ICOS, IL2, IL4, TNFRSF13B, TNFRSF13C
419.8CD40LG, CR2, ICOS, IL4, NFKB1, TNFRSF13B
42
Show member pathways
9.8BTK, CD19, CD40LG, CD79A, CD81, ICOS
43
Show member pathways
9.8BTK, CD19, CD79A, CD81, CR2, IL4
44
Show member pathways
9.7BTK, CD40LG, CD79A, ICOS, IL2, IL4
45
Show member pathways
9.7BTK, CD27, CD40LG, NFKB1, PRKCD, TNFRSF13B
46
Show member pathways
9.6BTK, CD19, CD79A, CD81, CR2, IL2
47
Show member pathways
9.5CD27, CD40LG, IL2, IL4, NFKB1, NFKB2
48
Show member pathways
9.4BTK, CD27, CD40LG, IL2, IL4, NFKB1
49
Show member pathways
9.4BTK, CD27, CD40LG, IL2, IL4, NFKB1
50
Show member pathways
9.4BTK, CD27, CD40LG, IL2, IL4, NFKB1

GO Terms for genes affiliated with Common Variable Immunodeficiency

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Cellular components related to Common Variable Immunodeficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:000989710.5CD19, CD27, CD40LG, CD79A, ICOS, IL4
2integral component of plasma membraneGO:000588710.5CD19, CD27, CD40LG, CD79A, CD81, ICOS
3extracellular regionGO:000557610.4CD27, CD40LG, ICOS, IL2, IL4, NFKB1
4plasma membraneGO:00058869.2BTK, CD19, CD27, CD40LG, CD79A, CD81

Biological processes related to Common Variable Immunodeficiency according to GeneCards Suite gene sharing:

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1immunoglobulin mediated immune responseGO:001606411.0CD27, PRKCD
2immunoglobulin secretionGO:004830511.0CD40LG, TNFSF13B
3B cell homeostasisGO:000178211.0TNFRSF13B, TNFRSF13C, TNFSF13B
4negative regulation of cytokine productionGO:000181811.0BTK, NFKB1
5I-kappaB kinase/NF-kappaB signalingGO:000724911.0BTK, NFKB1, NFKB2
6positive regulation of germinal center formationGO:000263611.0TNFRSF13C, TNFSF13B
7B cell receptor signaling pathwayGO:005085311.0BTK, CD19, CD79A
8B cell costimulationGO:003129610.9IL4, TNFRSF13C, TNFSF13B
9cellular defense responseGO:000696810.9CD19, IL4, SH2D1A
10positive regulation of B cell differentiationGO:004557910.9BTK, CD27
11negative regulation of T-helper 17 cell differentiationGO:200032010.9IL2, IL4
12positive regulation of isotype switching to IgG isotypesGO:004830410.9IL2, IL4
13negative regulation of inflammatory responseGO:005072810.9IL2, NFKB1, PRKCD
14B cell differentiationGO:003018310.9CD40LG, CD79A, CR2, IL4
15B cell activationGO:004211310.8BTK, CD79A, IL4, MS4A1
16B cell proliferationGO:004210010.8CD40LG, CD79A, CR2, MS4A1, PRKCD
17cell surface receptor signaling pathwayGO:000716610.8CD19, CD27, CD79A, CD81, TNFRSF13B
18positive regulation of T cell differentiationGO:004558210.8CD27, IL2, IL4
19positive regulation of NF-kappaB transcription factor activityGO:005109210.8BTK, CD40LG, NFKB1, NFKB2
20innate immune responseGO:004508710.8BTK, CR2, NFKB1, NFKB2, SH2D1A
21adaptive immune responseGO:000225010.7BTK, CD79A, IL2, SH2D1A, TNFRSF13B, TNFRSF13C
22T cell costimulationGO:003129510.7CD40LG, ICOS, TNFRSF13C, TNFSF13B
23positive regulation of B cell proliferationGO:003089010.7CD81, IL2, IL4, TNFRSF13C, TNFSF13B
24negative regulation of apoptotic processGO:004306610.6CD27, CD40LG, IL2, IL4, NFKB1
25positive regulation of T cell proliferationGO:004210210.6CD40LG, IL2, IL4, TNFRSF13C, TNFSF13B
26immune system processGO:000237610.5BTK, CD79A, CR2, IL2, SH2D1A, TNFRSF13B
27immune responseGO:000695510.4CD27, CD40LG, CR2, ICOS, IL2, IL4
28regulation of immune responseGO:005077610.4CD19, CD40LG, CD81, IL4, SH2D1A, TNFRSF13C
29tumor necrosis factor-mediated signaling pathwayGO:00332099.9CD27, CD40LG, TNFRSF13B, TNFRSF13C, TNFSF12, TNFSF13B

Molecular functions related to Common Variable Immunodeficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:000512510.4CD40LG, IL2, IL4, TNFSF12, TNFSF13B
2tumor necrosis factor receptor bindingGO:000516410.2CD40LG, TNFSF12, TNFSF13B

Sources for Common Variable Immunodeficiency

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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