CVID
MCID: CMM004
MIFTS: 68

Common Variable Immunodeficiency (CVID) malady

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

Aliases & Classifications for Common Variable Immunodeficiency

Aliases & Descriptions for Common Variable Immunodeficiency:

Name: Common Variable Immunodeficiency 38 12 50 25 56 52 42 14 69
Cvid 12 50 24 25 56
Common Variable Immune Deficiency 50 24 25
Idiopathic Immunoglobulin Deficiency 50 56
Immunodeficiency, Common Variable 25 29
Acquired Hypogammaglobulinemia 12 69
Primary Hypogammaglobulinemia 50 56
Primary Antibody Deficiency 50 56
Common Variable Hypogamma-Globulinemia 50
Immunoglobulin Deficiency, Late-Onset 50
Common Variable Hypogammaglobulinemia 25
Combined Variable Immune Deficiency 24
Common Variable Agammaglobulinemia 12
Hypogamma-Globulinemia, Acquired 50
Sporadic Hypogammaglobulinemia 12
Acquired Agammaglobulinemia 12

Characteristics:

Orphanet epidemiological data:

56
common variable immunodeficiency
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/100000; Age of onset: All ages;

Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:12177
ICD10 33 D83 D83.9
ICD9CM 35 279.06
MeSH 42 D017074
SNOMED-CT 64 191010004 23238000
Orphanet 56 ORPHA1572
MESH via Orphanet 43 D017074
ICD10 via Orphanet 34 D83.0 D83.9 D83.1 more
UMLS via Orphanet 70 C0009447
UMLS 69 C0009447

Summaries for Common Variable Immunodeficiency

NIH Rare Diseases : 50 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 arthralgia, chronic otitis media and splenomegaly. An important gene associated with Common Variable Immunodeficiency is TNFRSF13C (TNF Receptor Superfamily Member 13C), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Rivastigmine and Rifaximin have been mentioned in the context of this disorder. Affiliated tissues include b cells, lung and t cells, and related phenotypes are hematopoietic system and immune system

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 : 12 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

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

(show top 50) (show all 296)
id Related Disease Score Top Affiliating Genes
1 cutaneous polyarteritis nodosa 29.9 CD40LG CD79A
2 immunodeficiency, common variable, 10 11.8
3 cd19-related common variable immune deficiency 11.2
4 cr2-related common variable immune deficiency 11.2
5 icos-related common variable immune deficiency 11.2
6 tnfrsf13b-related common variable immune deficiency 11.2
7 tnfrsf13c-related common variable immune deficiency 11.2
8 familial cold autoinflammatory syndrome 3 11.1
9 immunodeficiency-centromeric instability-facial anomalies syndrome 1 11.1
10 autoimmune lymphoproliferative syndrome, type iii 11.1
11 immunodeficiency, common variable, 1 10.9
12 lymphoproliferative syndrome, x-linked, 1 10.8
13 lymphoproliferative syndrome, x-linked, 2 10.8
14 selective iga deficiency disease 10.8
15 immunodeficiency, common variable, 12 10.7
16 bronchiectasis with or without elevated sweat chloride 1 10.7
17 immunodeficiency, common variable, 8, with autoimmunity 10.7
18 bronchiectasis with or without elevated sweat chloride 3 10.7
19 immunoglobulin g deficiency 10.7
20 bronchiectasis with or without elevated sweat chloride 2 10.7
21 primary melanoma of the central nervous system 10.5 TNFRSF13B TNFRSF13C
22 otulipenia 10.5 TNFRSF13B TNFRSF13C TNFSF13B
23 alcoholic neuropathy 10.4 CD40LG CD79A
24 camptodactyly vertebral fusion 10.4 CD40LG CD79A
25 hyperparathyroidism, primary, caused by water clear cell hyperplasia 10.4 CD40LG TNFSF13B
26 lung combined large cell neuroendocrine carcinoma 10.4 CD40LG IL2 IL4
27 good syndrome 10.4 CD40LG CD79A TNFRSF13B
28 hemangioma of orbit 10.4 CD40LG CD79A IL2
29 tuberculosis 10.4 CD40LG IL2 IL4
30 spinal polio 10.4 CD40LG CD79A
31 alkhurma hemorrhagic fever 10.4 CD40LG CD79A IL4
32 myiasis 10.4 CD40LG IL2 IL4
33 cutaneous ganglioneuroma 10.4 CD40LG CD79A IL4
34 gestational diabetes 10.4 CD40LG CD79A SH2D1A
35 rabies 10.4 CD40LG CD79A
36 abducens nerve disease 10.4 CD40LG CD79A TNFSF13B
37 unilateral retinoblastoma 10.4 CD40LG CD79A
38 clostridium difficile colitis 10.4 CD79A IL2 IL4
39 mesangial proliferative glomerulonephritis 10.4 CD40LG CD79A
40 intermediate autosomal osteopetrosis 10.4 ICOS NFKB2
41 gonadal disease 10.4 CD79A IL2 IL4
42 intravascular angioleiomyoma 10.4 CD40LG CD79A IL4
43 colonic benign neoplasm 10.4 CD27 CD40LG CD79A
44 oral cavity cancer 10.4 CD40LG CD79A IL4
45 squamous cell papilloma of skin 10.4 CD40LG CD79A IL2
46 delta chain disease 10.4 CD40LG CD79A
47 newcastle disease 10.4 CD40LG CD79A IL2
48 barbiturate abuse 10.4 CD40LG CD79A IL4
49 multinodular goiter 10.4 CD40LG CD79A IL2
50 hypertrophic elongation of cervix 10.4 CD40LG 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

Human phenotypes related to Common Variable Immunodeficiency:

56 32 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 56 32 Occasional (29-5%) HP:0002829
2 chronic otitis media 56 32 Very frequent (99-80%) HP:0000389
3 splenomegaly 56 32 Frequent (79-30%) HP:0001744
4 brachycephaly 56 32 Very frequent (99-80%) HP:0000248
5 emphysema 56 32 Occasional (29-5%) HP:0002097
6 immunodeficiency 56 32 Very frequent (99-80%) HP:0002721
7 hemolytic anemia 56 32 Frequent (79-30%) HP:0001878
8 elevated hepatic transaminases 56 32 Frequent (79-30%) HP:0002910
9 decreased antibody level in blood 56 32 Very frequent (99-80%) HP:0004313
10 lymphopenia 56 32 Very frequent (99-80%) HP:0001888
11 anal atresia 56 32 Frequent (79-30%) HP:0002023
12 purpura 56 32 Frequent (79-30%) HP:0000979
13 vasculitis 56 32 Occasional (29-5%) HP:0002633
14 lymphoma 56 32 Occasional (29-5%) HP:0002665
15 failure to thrive in infancy 56 32 Occasional (29-5%) HP:0001531
16 lymphadenopathy 56 32 Frequent (79-30%) HP:0002716
17 bronchiectasis 56 32 Frequent (79-30%) HP:0002110
18 pneumonia 56 32 Very frequent (99-80%) HP:0002090
19 gastrointestinal stroma tumor 56 32 Occasional (29-5%) HP:0100723
20 autoimmune thrombocytopenia 56 32 Very frequent (99-80%) HP:0001973
21 recurrent bronchitis 56 32 Very frequent (99-80%) HP:0002837
22 posterior pharyngeal cleft 56 32 Occasional (29-5%) HP:0006783
23 recurrent respiratory infections 56 Very frequent (99-80%)
24 otitis media 56 Very frequent (99-80%)
25 abnormality of the liver 56 Frequent (79-30%)
26 restrictive lung disease 56 Occasional (29-5%)
27 restrictive ventilatory defect 32 HP:0002091

MGI Mouse Phenotypes related to Common Variable Immunodeficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.32 SH2D1A TNFRSF13B TNFRSF13C TNFSF12 TNFSF13B BTK
2 immune system MP:0005387 10.16 ICOS IL2 IL4 LRBA MS4A1 NFKB1
3 homeostasis/metabolism MP:0005376 10.13 BTK CD19 CD40LG CD79A CD81 CR2
4 liver/biliary system MP:0005370 9.56 CD79A IL2 IL4 NFKB1 NFKB2 PRKCD
5 renal/urinary system MP:0005367 9.23 CD19 CD40LG CD79A CR2 IL4 NFKB2

Drugs & Therapeutics for Common Variable Immunodeficiency

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

(show top 50) (show all 96)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
2
Rifaximin Approved, Investigational Phase 4 80621-81-4 6436173
3 Immunoglobulins Phase 4,Phase 3
4 Antibodies Phase 4,Phase 3
5 rifamycin SV Phase 4
6 Lithium carbonate Phase 4 554-13-2
7 Cholinergic Agents Phase 4
8 Cholinesterase Inhibitors Phase 4
9 Gastrointestinal Agents Phase 4
10 Neuroprotective Agents Phase 4
11 Neurotransmitter Agents Phase 4
12 Nucleic Acid Synthesis Inhibitors Phase 4
13 Tranquilizing Agents Phase 4
14 Anti-Bacterial Agents Phase 4
15 Immunoglobulin G Phase 4,Phase 3
16 gamma-Globulins Phase 4,Phase 3
17 Anti-Infective Agents Phase 4,Phase 2
18 Immunoglobulins, Intravenous Phase 4,Phase 3
19 Protective Agents Phase 4
20 Antidepressive Agents Phase 4
21 Psychotropic Drugs Phase 4
22 Antimanic Agents Phase 4
23 Rho(D) Immune Globulin Phase 4,Phase 3
24 Rifamycins Phase 4
25 Central Nervous System Depressants Phase 4
26 Pharmaceutical Solutions Phase 3,Phase 2
27
Melphalan Approved Phase 2 148-82-3 4053 460612
28
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
29
Mycophenolic acid Approved Phase 2 24280-93-1 446541
30
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
31
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
32
Pentostatin Approved, Investigational Phase 2 53910-25-1 40926 439693
33
Busulfan Approved, Investigational Phase 2 55-98-1 2478
34
alemtuzumab Approved, Investigational Phase 2 216503-57-0
35
Everolimus Approved Phase 2 159351-69-6 6442177
36
Thiotepa Approved Phase 2 52-24-4 5453
37
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
38
Ustekinumab Approved, Investigational Phase 1, Phase 2 815610-63-0
39
Peginterferon alfa-2a Approved, Investigational Phase 2 198153-51-4 5360545
40 Interleukin-12 Phase 1, Phase 2
41 Alkylating Agents Phase 2
42 Dermatologic Agents Phase 1, Phase 2
43 Vaccines Phase 2
44 Immunosuppressive Agents Phase 2
45 Antimetabolites Phase 2
46 Antimetabolites, Antineoplastic Phase 2
47 Antirheumatic Agents Phase 2
48 Antineoplastic Agents, Alkylating Phase 2
49 Antiviral Agents Phase 2
50 interferons Phase 2

Interventional clinical trials:

(show all 43)
id Name Status NCT ID Phase
1 The Rifaximin Study in CVID Completed NCT01946906 Phase 4
2 Efficacy and Safety of Vivaglobin® in Previously Untreated Patients With Primary Immunodeficiency Completed NCT00520494 Phase 4
3 A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficiency Completed NCT01289847 Phase 4
4 Efficacy and Safety of Two Pharmacologic Strategies on Neurocognitive Impairment in HIV Infection. The TRIANT-TE Study Completed NCT01348282 Phase 4
5 A Multi-centre Open Study to Assess the Safety and Efficacy of Subgam® Completed NCT02247141 Phase 3
6 Efficacy and Safety of Intravenous Immunoglobulin IVIG-F10 in Patients With Primary Immunodeficiencies (PID) Completed NCT00168012 Phase 3
7 Efficacy and Safety of Intravenous Immunoglobulin IgPro10 in Patients With Primary Immunodeficiencies (PID) Completed NCT00168025 Phase 3
8 Safety and Efficacy of Intravenous Immunoglobulin IgPro10 in Patients With Primary Immunodeficiencies (PID) Completed NCT00322556 Phase 3
9 Study of Subcutaneous Immune Globulin in Patients Requiring IgG Replacement Therapy Completed NCT00542997 Phase 3
10 Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
11 Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases. Completed NCT00278954 Phase 3
12 Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients Completed NCT00220766 Phase 3
13 A Clinical Study of Intravenous Immunoglobulin Completed NCT00468273 Phase 3
14 Pharmacokinetics (PK) and Safety of Subgam-VF in Primary Immunodeficiency Diseases Active, not recruiting NCT01884311 Phase 3
15 Study of Safety, Tolerability, and Efficacy of Ustekinumab for Symptomatic Gastrointestinal Inflammation Associated With Common Variable Immunodeficiency Recruiting NCT02199496 Phase 1, Phase 2
16 Pilot Trial of Allogeneic Blood or Marrow Transplanation for Primary Immunodeficiencies Recruiting NCT02579967 Phase 2
17 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Recruiting NCT01852370 Phase 1, Phase 2
18 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2
19 Clinical and Virological Efficacy of Pegylated Interferon Alpha in the Treatment of Rhinovirus Infection in Patients With Primary Hypogammaglobulinemia: Randomized Controlled Trial Not yet recruiting NCT02661477 Phase 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 Immunodeficiency Terminated NCT01489618 Phase 2
21 Clinical 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) Withdrawn NCT02789397 Phase 2
22 STA-5326 Meslylate to Treat Gut Inflammation Associated With Common Variable Immunodeficiency Completed NCT00263237 Phase 1
23 B-Lymphocyte Stimulator (BLyS) To Treat Selective IgA Deficiency Completed NCT00024934 Phase 1
24 Multivirus-specific Cytotoxic T Lymphocytes (mCTL) Recruiting NCT02510404 Phase 1
25 Lymphocyte Immunophenotyping in Common Variable Immunodeficiency Unknown status NCT01196702
26 Immune System and Gut Abnormalities in Patients With Common Variable Immunodeficiency With and Without Gastrointestinal Symptoms Completed NCT00015431
27 Randomized Study of Polyethylene-Glycol-Conjugated Interleukin 2 in Patients With Common Variable Immunodeficiency Completed NCT00004695
28 Specific IgG Antibody in Patients With Primary Antibody Deficiencies Treated With Subcutaneous Immunoglobulin Completed NCT00661401
29 Construction of a Health-related Quality of Life (HR-QOL) Questionnaire for Patients With Primary Antibody Deficiency Disease Completed NCT02542228
30 Study of Bone Disease in Older HIV-infected Adults Completed NCT00935935
31 Text Messaging Intervention to Improve HIV Adherence in Rural Drug Users Completed NCT01343654
32 Immune Regulation in Patients With Common Variable Immunodeficiency and Related Syndromes Recruiting NCT00001244
33 Natural History of Bronchiectasis Recruiting NCT00943514
34 Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders Recruiting NCT00895271
35 Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older Recruiting NCT02960399
36 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092
37 Gamma Globulin Observations and Outcomes Database for Patients With Primary Immunodeficiency Disease (GOOD-SHEPARD-PI) Recruiting NCT01883921
38 My Smart Age With HIV: Smartphone Self-assessment of Frailty Recruiting NCT02663856
39 Investigation of Immune Disorders and Deficiencies Active, not recruiting NCT01981785
40 Molecular and Clinical Studies of Primary Immunodeficiency Diseases Enrolling by invitation NCT00006319
41 Improving the Diagnosis of Common Variable Immune Deficiency Not yet recruiting NCT02680652
42 Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States Terminated NCT00266513
43 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054

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) PMIDs: 10430905

Cochrane evidence based reviews: common variable immunodeficiency

Genetic Tests for Common Variable Immunodeficiency

Genetic tests related to Common Variable Immunodeficiency:

id Genetic test Affiliating Genes
1 Common Variable Immunodeficiency 29
2 Common Variable Immune Deficiency 24 TNFRSF13C

Anatomical Context for Common Variable Immunodeficiency

MalaCards organs/tissues related to Common Variable Immunodeficiency:

39
B Cells, Lung, T Cells, Spleen, Lymph Node, Liver, Bone

Publications for Common Variable Immunodeficiency

Articles related to Common Variable Immunodeficiency:

(show top 50) (show all 768)
id Title Authors Year
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

Expression for Common Variable Immunodeficiency

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

Pathways for Common Variable Immunodeficiency

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

(show top 50) (show all 53)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.89 BTK CD19 CD27 CD40LG CD79A CD81
2
Show member pathways
13.87 BTK CD27 CD40LG IL2 IL4 NFKB1
3
Show member pathways
13.69 BTK CD27 CD40LG IL2 IL4 NFKB1
4
Show member pathways
13.45 BTK CD19 CD40LG CD79A CD81 ICOS
5
Show member pathways
13.43 BTK CD27 CD40LG IL2 IL4 NFKB1
6
Show member pathways
13.39 CD27 CD40LG IL2 IL4 NFKB1 NFKB2
7
Show member pathways
13.3 BTK CD27 CD40LG IL2 IL4 NFKB1
8
Show member pathways
13.23 BTK CD19 CD79A CD81 CR2 IL2
9
Show member pathways
12.89 CD40LG ICOS IL2 IL4 TNFRSF13B TNFRSF13C
10
Show member pathways
12.74 CD40LG IL2 NFKB1 NFKB2 PRKCD TNFRSF13C
11
Show member pathways
12.72 BTK CD19 CD79A ICOS NFKB1
12
Show member pathways
12.68 BTK CD40LG CD79A ICOS IL2 IL4
13
Show member pathways
12.66 CD27 CD40LG CR2 NFKB1 PRKCD
14
Show member pathways
12.61 BTK CD19 CD79A CD81 CR2 IL4
15
Show member pathways
12.59 BTK CD27 CD40LG NFKB1 PRKCD TNFRSF13B
16
Show member pathways
12.49 CD40LG ICOS IL2 IL4 NFKB1 PRKCD
17
Show member pathways
12.44 IL2 NFKB1 NFKB2 PRKCD
18
Show member pathways
12.44 CR2 NFKB1 NFKB2 TNFRSF13B TNFRSF13C TNFSF13B
19
Show member pathways
12.43 BTK CD19 CD79A CD81 CR2 NFKB1
20 12.42 IL2 NFKB1 NFKB2 TNFRSF13C
21
Show member pathways
12.41 CD40LG ICOS IL2 NFKB1 PRKCD
22
Show member pathways
12.32 IL2 IL4 NFKB1 NFKB2
23
Show member pathways
12.32 BTK CD19 NFKB1 PRKCD
24
Show member pathways
12.31 BTK NFKB1 NFKB2 PRKCD
25 12.28 CD19 CR2 NFKB1 NFKB2
26 12.08 CD19 CD40LG CD81 SH2D1A
27 12.05 CD19 CD79A IL2 IL4 MS4A1
28
Show member pathways
12 IL2 IL4 NFKB1 NFKB2
29 11.91 CD19 CR2 IL4 MS4A1
30 11.91 BTK CD40LG NFKB1 NFKB2 TNFRSF13C TNFSF13B
31 11.9 BTK CD19 CD40LG CD79A ICOS IL2
32 11.86 IL2 NFKB1 PRKCD
33
Show member pathways
11.84 CD27 CD40LG TNFRSF13B TNFRSF13C TNFSF12 TNFSF13B
34
Show member pathways
11.8 IL2 NFKB1 NFKB2
35 11.79 IL2 IL4 NFKB1
36 11.78 ICOS IL2 IL4
37
Show member pathways
11.75 CD40LG IL2 IL4
38 11.75 CD19 IL2 MS4A1
39 11.73 BTK NFKB1 PRKCD
40
Show member pathways
11.72 CD40LG IL2 NFKB1 NFKB2
41
Show member pathways
11.68 IL2 IL4 NFKB1
42
Show member pathways
11.66 CD40LG NFKB1 NFKB2 TNFRSF13B TNFSF12 TNFSF13B
43 11.62 CD27 CD40LG ICOS
44 11.53 CD19 CD27 CD40LG CR2 ICOS MS4A1
45 11.47 IL2 NFKB1 NFKB2
46 11.4 CD40LG CR2 ICOS IL4 NFKB1 TNFRSF13B
47 11.34 CD40LG IL2 IL4
48 11.29 CD40LG IL4 NFKB1
49 11.27 BTK CD40LG IL2 IL4 TNFSF12 TNFSF13B
50 11.27 BTK CD19 CD40LG CD79A ICOS TNFRSF13B

GO Terms for Common Variable Immunodeficiency

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.91 CD27 CD40LG ICOS IL2 IL4 NFKB1
2 plasma membrane GO:0005886 9.83 BTK CD19 CD27 CD40LG CD79A CD81
3 integral component of plasma membrane GO:0005887 9.81 CD19 CD27 CD40LG CD79A CD81 ICOS
4 external side of plasma membrane GO:0009897 9.28 CD19 CD27 CD40LG CD79A ICOS IL4

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

(show all 29)
id Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.95 CD19 CD27 CD79A CD81 TNFRSF13B
2 adaptive immune response GO:0002250 9.93 BTK CD79A IL2 SH2D1A TNFRSF13B TNFRSF13C
3 immune system process GO:0002376 9.92 BTK CD79A CR2 IL2 SH2D1A TNFRSF13B
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.87 BTK CD40LG NFKB1 NFKB2
5 B cell receptor signaling pathway GO:0050853 9.82 BTK CD19 CD79A
6 T cell costimulation GO:0031295 9.81 CD40LG ICOS TNFRSF13C TNFSF13B
7 B cell differentiation GO:0030183 9.8 CD40LG CD79A CR2 IL4
8 negative regulation of inflammatory response GO:0050728 9.79 IL2 NFKB1 PRKCD
9 B cell activation GO:0042113 9.78 BTK CD79A IL4 MS4A1
10 cellular defense response GO:0006968 9.77 CD19 IL4 SH2D1A
11 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.77 BTK NFKB1 NFKB2
12 positive regulation of T cell proliferation GO:0042102 9.77 CD40LG IL2 IL4 TNFRSF13C TNFSF13B
13 tumor necrosis factor-mediated signaling pathway GO:0033209 9.73 CD27 CD40LG TNFRSF13B TNFRSF13C TNFSF12 TNFSF13B
14 B cell homeostasis GO:0001782 9.71 TNFRSF13B TNFRSF13C TNFSF13B
15 positive regulation of T cell differentiation GO:0045582 9.7 CD27 IL2 IL4
16 regulation of immune response GO:0050776 9.7 CD19 CD40LG CD81 IL4 SH2D1A TNFRSF13C
17 positive regulation of B cell differentiation GO:0045579 9.64 BTK CD27
18 negative regulation of cytokine production GO:0001818 9.62 BTK NFKB1
19 immunoglobulin mediated immune response GO:0016064 9.61 CD27 PRKCD
20 positive regulation of isotype switching to IgG isotypes GO:0048304 9.61 IL2 IL4
21 B cell costimulation GO:0031296 9.61 IL4 TNFRSF13C TNFSF13B
22 immunoglobulin secretion GO:0048305 9.58 CD40LG TNFSF13B
23 negative regulation of T-helper 17 cell differentiation GO:2000320 9.58 IL2 IL4
24 positive regulation of germinal center formation GO:0002636 9.56 TNFRSF13C TNFSF13B
25 positive regulation of B cell proliferation GO:0030890 9.35 CD81 IL2 IL4 TNFRSF13C TNFSF13B
26 B cell proliferation GO:0042100 9.02 CD40LG CD79A CR2 MS4A1 PRKCD
27 negative regulation of apoptotic process GO:0043066 10.03 CD27 CD40LG IL2 IL4 NFKB1
28 innate immune response GO:0045087 10.03 BTK CR2 NFKB1 NFKB2 SH2D1A
29 immune response GO:0006955 10.01 CD27 CD40LG CR2 ICOS IL2 IL4

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

id Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor receptor binding GO:0005164 9.13 CD40LG TNFSF12 TNFSF13B
2 cytokine activity GO:0005125 9.02 CD40LG IL2 IL4 TNFSF12 TNFSF13B

Sources for Common Variable Immunodeficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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