CVID
MCID: CMM004
MIFTS: 72

Common Variable Immunodeficiency (CVID)

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Common Variable Immunodeficiency

MalaCards integrated aliases for Common Variable Immunodeficiency:

Name: Common Variable Immunodeficiency 12 74 20 43 58 36 29 54 6 44 15 37 71 32
Cvid 12 20 43 58
Common Variable Agammaglobulinemia 12 29 6
Idiopathic Immunoglobulin Deficiency 20 58
Common Variable Immune Deficiency 20 43
Hypogamma-Globulinemia, Acquired 20 6
Acquired Hypogammaglobulinemia 12 71
Primary Hypogammaglobulinemia 20 58
Primary Antibody Deficiency 20 58
Common Variable Hypogamma-Globulinemia 20
Immunoglobulin Deficiency, Late-Onset 20
Common Variable Hypogammaglobulinemia 43
Immunodeficiency, Common Variable 43
Sporadic Hypogammaglobulinemia 12
Acquired Agammaglobulinemia 12

Characteristics:

Orphanet epidemiological data:

58
common variable immunodeficiency
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/100000; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare immunological diseases


Summaries for Common Variable Immunodeficiency

MedlinePlus Genetics : 43 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.Approximately 25 percent of people with CVID have an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's tissues and organs. The blood cells are most frequently affected by autoimmune attacks in CVID; the most commonly occurring autoimmune disorders are immune thrombocytopenia, which is an abnormal bleeding disorder caused by a decrease in cells involved in blood clotting called platelets, and autoimmune hemolytic anemia, which results in premature destruction of red blood cells. Other autoimmune disorders such as rheumatoid arthritis can occur. Individuals with CVID also have a greater than normal risk of developing certain types of cancer, including a cancer of immune system cells called non-Hodgkin lymphoma and less frequently, stomach (gastric) cancer.People with CVID may start experiencing signs and symptoms of the disorder anytime between childhood and adulthood; most people with CVID are diagnosed in their twenties or thirties. The life expectancy of individuals with CVID varies depending on the severity and frequency of illnesses they experience. Most people with CVID live into adulthood.There are many different types of CVID that are distinguished by genetic cause. People with the same type of CVID may have varying signs and symptoms.

MalaCards based summary : Common Variable Immunodeficiency, also known as cvid, is related to immunodeficiency, common variable, 1 and immunodeficiency, common variable, 2. An important gene associated with Common Variable Immunodeficiency is TNFRSF13B (TNF Receptor Superfamily Member 13B), and among its related pathways/superpathways are Primary immunodeficiency and Innate Immune System. The drugs Rifaximin and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and spleen, and related phenotypes are chronic otitis media and brachycephaly

Disease Ontology : 12 An agammaglobulinemia 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.

GARD : 20 Common variable immunodeficiency (CVID) is a group of disorders characterized by low levels of a type of protein known as immunoglobulins (Ig). Because of low level of Ig, the immune system cannot make antibodies that fight bacteria, viruses or other toxins in the body. This leads to frequent infections, particularly in the sinuses, lungs, and digestive tract. Symptoms most commonly begin in early adulthood but can occur at any age. While in most cases the cause of CVID is unknown, a genetic change has been found in about one-third of cases. This condition is diagnosed based on the symptoms, specific laboratory testings, and exclusion of other disorders. Treatment for CVID includes Ig replacement therapy, which stops the cycle of recurrent infections. The long term outlook for people with CVID varies depending on the severity of the symptoms and any underlying conditions.

KEGG : 36 There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency (CVID). Category (c) CVID, also called acquired hypogammaglobulinemia, adult-onset hypogammaglobulinemia, or dysgammaglobulinemia, is a heterogeneous group of disorders involving both B-cell and T-cell immune function, the predominant manifestation of which is hypogammaglobulinemia. CVID is characterized by recurrent bacterial infections, decreased serum Ig levels, and abnormal antibody responses. The mutated genes that produce the CVID phenotype are known only for a minority of patients, and they are diverse in their influence on immune function. Homozygous mutations in ICOS are clearly the cause of disease. Heterozygous mutations in the TNF receptor family member TACI (transmembrane activator and calcium-modulating cyclophilin ligand interactor) can be found in up to 10% of patients with CVID.

Wikipedia : 74 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 663)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency, common variable, 1 33.3 TNFRSF13B NFKB2 ICOS
2 immunodeficiency, common variable, 2 33.1 TNFRSF13C TNFRSF13B ICOS CR2 CD19
3 agammaglobulinemia 33.0 TNFSF12 TNFRSF13B SH2D1A IL2 CR2 CD40LG
4 immune deficiency disease 33.0 TNFSF13B TNFRSF13B SH2D1A RAG2 IL2 CR2
5 primary agammaglobulinemia 32.5 TNFRSF13C TNFRSF13B
6 immunoglobulin alpha deficiency 32.1 TNFSF13B TNFRSF13C TNFRSF13B CD40LG CD19
7 autoimmune disease 32.0 TNFSF13B TNFRSF13C TNFRSF13B IL2 CR2 CD40LG
8 autoimmune lymphoproliferative syndrome, type iii 32.0 PRKCD LRBA
9 anemia, autoimmune hemolytic 31.7 TNFSF13B LRBA CD40LG CD19
10 lymphoma 31.7 SH2D1A NFKB2 MS4A1 IL2 CR2 CD19
11 agammaglobulinemia, x-linked 31.7 TNFRSF13C TNFRSF13B CR2 CD40LG CD19 BTK
12 b-cell lymphoma 31.6 TNFSF13B TNFRSF13C NFKB2 MS4A1 CR2 CD19
13 immunoglobulin a deficiency 1 31.6 TNFRSF13B CD40LG BTK
14 combined immunodeficiency 31.5 TTC7A RAG2 NFKB2 LRBA IL2 ICOS
15 lymphoma, non-hodgkin, familial 31.4 TNFSF13B TNFRSF13C TNFRSF13B SH2D1A MS4A1 IL2
16 immunodeficiency with hyper-igm, type 1 31.4 TNFSF13B TNFRSF13C TNFRSF13B RAG2 CD40LG CD19
17 thrombocytopenia due to platelet alloimmunization 31.4 TNFSF13B TNFRSF13B CD19
18 t cell deficiency 31.3 RAG2 LRBA IL2 CD19
19 systemic lupus erythematosus 31.3 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B IL2 ICOS
20 lymphoma, mucosa-associated lymphoid type 31.2 TNFSF13B TNFRSF13C CR2 CD19
21 cd40 ligand deficiency 31.1 TNFRSF13B SH2D1A CD40LG BTK
22 lymphoma, hodgkin, classic 31.1 SH2D1A MS4A1 IL2
23 severe combined immunodeficiency 31.0 TTC7A RAG2 IL2 CD19
24 transient hypogammaglobulinemia 31.0 TNFRSF13B CD19
25 selective igg deficiency disease 30.9 TNFRSF13C TNFRSF13B CD19
26 marginal zone b-cell lymphoma 30.9 CR2 CD40LG CD19 BTK
27 pfeiffer syndrome 30.7 SH2D1A IL2 CR2 CD40LG CD19
28 b cell deficiency 30.7 TNFSF13B TNFRSF13C TNFRSF13B SH2D1A PRKCD NFKB2
29 burkitt lymphoma 30.7 TNFSF13B SH2D1A NFKB1 MS4A1 CR2 CD40LG
30 immunodeficiency with hyper-igm, type 4 30.7 TNFSF13B TNFRSF13C CD40LG
31 neuroaspergillosis 30.7 NFKB2 NFKB1 LRBA
32 b-cell non-hodgkin lymphoma 30.7 TNFSF13B NFKB2 MS4A1
33 peripheral t-cell lymphoma 30.7 MS4A1 IL2 CD19
34 pneumocystosis 30.7 IL2 CD40LG BTK
35 lymphoproliferative syndrome 2 30.7 TNFRSF13B SH2D1A CR2
36 transient hypogammaglobulinemia of infancy 30.7 TNFRSF13C TNFRSF13B CR2 CD19
37 autoimmune lymphoproliferative syndrome 30.6 SH2D1A PRKCD MS4A1 LRBA IL2 CD19
38 congenital hypogammaglobulinemia 30.6 CD19 BTK
39 leukemia, chronic lymphocytic 30.6 TNFSF13B TNFRSF13C TNFRSF13B MS4A1 IL2 CR2
40 granulomatous hepatitis 30.6 TNFRSF13B CR2
41 lymphoplasmacytic lymphoma 30.6 CD40LG CD19 BTK
42 mulchandani-bhoj-conlin syndrome 30.5 CR2 CD40LG CD19
43 good syndrome 30.0 TNFRSF13B CD19
44 immunodeficiency, common variable, 8, with autoimmunity 11.7
45 immunodeficiency, common variable, 10 11.7
46 immunodeficiency, common variable, 4 11.4
47 immunodeficiency, common variable, 11 11.4
48 immunodeficiency, common variable, 3 11.4
49 immunodeficiency, common variable, 5 11.4
50 immunodeficiency, common variable, 6 11.4

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:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chronic otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000389
2 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
3 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
4 lymphopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001888
5 pneumonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002090
6 recurrent bronchitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002837
7 autoimmune thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001973
8 decreased circulating antibody level 31 hallmark (90%) HP:0004313
9 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
10 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
11 hemolytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001878
12 anal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0002023
13 purpura 58 31 frequent (33%) Frequent (79-30%) HP:0000979
14 abnormality of the liver 58 31 frequent (33%) Frequent (79-30%) HP:0001392
15 lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002716
16 bronchiectasis 58 31 frequent (33%) Frequent (79-30%) HP:0002110
17 failure to thrive in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001531
18 emphysema 58 31 occasional (7.5%) Occasional (29-5%) HP:0002097
19 arthralgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002829
20 lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002665
21 vasculitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002633
22 restrictive ventilatory defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0002091
23 gastrointestinal stroma tumor 58 31 occasional (7.5%) Occasional (29-5%) HP:0100723
24 posterior pharyngeal cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0006783
25 recurrent respiratory infections 58 Very frequent (99-80%)
26 decreased antibody level in blood 58 Very frequent (99-80%)
27 otitis media 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Common Variable Immunodeficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.37 BTK CD19 CD40LG CD81 CR2 ICOS
2 immune system MP:0005387 10.26 BTK CD19 CD40LG CD81 CR2 ICOS
3 homeostasis/metabolism MP:0005376 10.22 BTK CD19 CD40LG CD81 CR2 ICOS
4 digestive/alimentary MP:0005381 10.17 BTK CD19 ICOS IL2 LRBA MANBA
5 endocrine/exocrine gland MP:0005379 10.06 CD40LG ICOS IL2 MANBA NFKB1 NFKB2
6 liver/biliary system MP:0005370 9.81 CD19 IL2 MANBA NFKB1 NFKB2 PRKCD
7 neoplasm MP:0002006 9.5 BTK CD19 ICOS IL2 RAG2 TNFRSF13B
8 renal/urinary system MP:0005367 9.23 CD19 CD40LG CR2 MANBA NFKB2 PRKCD

Drugs & Therapeutics for Common Variable Immunodeficiency

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

(show top 50) (show all 82)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rifaximin Approved, Investigational Phase 4 80621-81-4 6436173 46783403
2 Gastrointestinal Agents Phase 4
3 Immunoglobulin G Phase 4
4 Immunologic Factors Phase 4
5 Immunoglobulins Phase 4
6 gamma-Globulins Phase 4
7 Immunoglobulins, Intravenous Phase 4
8 Antibodies Phase 4
9 Rho(D) Immune Globulin Phase 4
10 Immunosuppressive Agents Phase 4
11 Complement System Proteins Phase 4
12 Complement C1 Inactivator Proteins Phase 4
13 Complement C1 Inhibitor Protein Phase 4
14 Complement C1s Phase 4
15 Pharmaceutical Solutions Phase 3
16
Peginterferon alfa-2a Approved, Investigational Phase 2 198153-51-4 5360545
17
Ustekinumab Approved, Investigational Phase 1, Phase 2 815610-63-0
18
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
19
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
20
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
21
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
22
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
23
Mycophenolic acid Approved Phase 2 24280-93-1 446541
24
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
25
alemtuzumab Approved, Investigational Phase 2 216503-57-0
26
Melphalan Approved Phase 2 148-82-3 4053 460612
27
Pentostatin Approved, Investigational Phase 2 53910-25-1 40926 439693
28
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
29
Mesna Approved, Investigational Phase 2 3375-50-6 598
30 interferons Phase 2
31 Interferon alpha-2 Phase 2
32 Interferon-alpha Phase 2
33 Dermatologic Agents Phase 1, Phase 2
34 Interleukin-12 Phase 1, Phase 2
35 Alkylating Agents Phase 1, Phase 2
36 Antilymphocyte Serum Phase 1, Phase 2
37 Anti-Infective Agents Phase 2
38 Calcineurin Inhibitors Phase 2
39 Anti-Bacterial Agents Phase 2
40 Thymoglobulin Phase 1, Phase 2
41 Antibiotics, Antitubercular Phase 2
42 Antitubercular Agents Phase 2
43 Vaccines Phase 2
44 Heptavalent Pneumococcal Conjugate Vaccine Phase 2
45
Xylometazoline Approved, Investigational Phase 1 526-36-3 5709
46
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
47
tannic acid Approved 1401-55-4
48
Vidarabine Approved, Investigational 24356-66-9 32326 21704
49
Methotrexate Approved 1959-05-2, 59-05-2 126941
50
Levoleucovorin Approved, Investigational 68538-85-2 149436

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 Effects of Rifaximin, by Modulation of the Gut Microbiota, on Markers of Systemic Inflammation in Patients With Common Variable Immunodeficiency - An Exploratory Open-label Randomized Controlled Trial Completed NCT01946906 Phase 4 Rifaximin
2 A Multicenter Study on the Efficacy and Safety of Vivaglobin® in Previously Untreated Patients (PUPs) With Primary Immunodeficiency (PID) Completed NCT00520494 Phase 4 Vivaglobin
3 A Phase IV, Multicenter, Open-Label Study to Evaluate the Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases (PID) in Children and Adolescents Completed NCT01289847 Phase 4
4 A Single-site, Open-Label, Pilot Study to Evaluate the Benefit of RUCONEST® in Subjects Who Experience ADRs Related to IVIG Infusions Recruiting NCT03576469 Phase 4
5 A Multi-centre Open Study to Assess the Safety and Efficacy of Subgam® Given Via the Subcutaneous Route in Primary Antibody Deficient Patients. Completed NCT02247141 Phase 3
6 A Multicentre Study of the Efficacy, Tolerability, Safety, and Pharmacokinetics of Immune Globulin Subcutaneous (Human) IgPro20 in Subjects With Primary Immunodeficiency Completed NCT00542997 Phase 3
7 A Phase III, Multicenter, Open-label, Randomized, Two-Period, Crossover Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
8 A Phase III, Multicenter, Open-Label Study to Evaluate the Pharmacokinetics and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
9 IGIV-C 10% Rapid Infusion Trial in Primary Immune Deficient Patients Completed NCT00220766 Phase 3 Immune Globulin Intravenous [Human], 10% Caprylate/Chromatography Purified;Dextrose, 5% in Water
10 A Multicenter Study on the Efficacy, Safety and Pharmacokinetics of IgPro10 in Patients With Primary Immunodeficiency (PID) Completed NCT00168025 Phase 3 Immunoglobulins Intravenous (Human)
11 A Phase III, Multicenter, Open-Label Study To Evaluate The Efficacy, Safety, and Pharmacokinetics of Gammaplex® in Primary Immunodeficiency Diseases Completed NCT00278954 Phase 3
12 An Open Study to Evaluate the Safety and Efficacy of IVIG-F10 in Patients With Primary Immunodeficiency Diseases (PID) Completed NCT00168012 Phase 3 Immunoglobulins Intravenous (Human)
13 A Multicenter Extension Study on the Safety and Efficacy of IgPro10 in Patients With Primary Immunodeficiency (PID) Completed NCT00322556 Phase 3 Immunoglobulins Intravenous (Human)
14 An Open-label, Non-randomized, Within-patient Dose-finding Study Followed by a Randomized, Subject, Investigator and Sponsor-blinded Placebo Controlled Study to Assess the Efficacy and Safety of CDZ173 in Patients With APDS/PASLI Recruiting NCT02435173 Phase 2, Phase 3 CDZ173
15 Clinical and Virological Efficacy of Pegylated Interferon Alpha in the Treatment of Rhinovirus Infection in Patients With Primary Hypogammaglobulinemia: Randomized Controlled Trial Unknown status NCT02661477 Phase 2 pegylated interferon alfa 2
16 An Open-Label Phase I/II Pilot Study to Assess the Safety/Tolerability and Efficacy of Ustekinumab for Symptomatic Gastrointestinal Inflammation Associated With Common Variable Immunodeficiency Completed NCT02199496 Phase 1, Phase 2
17 PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
18 A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immunodeficiency Diseases Recruiting NCT04339777 Phase 2 Busulfan test dose;Fludarabine;Busulfan;Alemtuzumab;Tacrolimus (Tacro);Mycophenolate mofetil (MMF);Cyclophosphamide (Cytoxan)
19 A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
20 Pilot Trial of Allogeneic Blood or Marrow Transplantation for Primary Immunodeficiencies Recruiting NCT02579967 Phase 2 Immunosuppression Only Conditioning - Closed with amendment L;Reduced Intensity Conditioning;Myeloablative Conditioning-Closed with amendment L;GVHD Prophylaxis
21 Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Disorders of T-cell Proliferation and/or Dysregulation Recruiting NCT03663933 Phase 2 Immunosuppression Only Conditioning (IOC);Reduced Intensity Conditioning (RIC);GVHD Prophylaxis
22 Bilateral Orthotopic Lung Transplant in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant From Partially HLA-Matched Cadaveric Donors Enrolling by invitation NCT01852370 Phase 1, Phase 2
23 Randomised, Multicentric, Phase ii Study of the Immunogenicity of a "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
24 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 Rituximab (RTX) and Azathioprine (AZA);Placebos
25 A Pilot Study of Safety and Efficacy of the Oral IL-12/23 Inhibitor, STA-5326 Mesylate, for Symptomatic Gastrointestinal Inflammation Associated With Common Variable Immunodeficiency Completed NCT00263237 Phase 1 STA-5326
26 Investigation of the Lymphocyte Surface Expression of Patients With Primary Immunodeficiency (Common Variable Immunodeficiency (CVID)), Compared to Controls Unknown status NCT01196702
27 Improving the Diagnosis of CVID by Analysis of Innate and Adaptive Signaling Pathways Unknown status NCT02680652
28 Granulomatous-Lymphocytic Interstitial Lung Disease (GLILD) Diagnosed in Children and Young Adults With Common Variable Immunodeficiency Unknown status NCT03648567
29 Investigation of Molecular, Genetic and Cellular Mechanisms of Human Immune Disorders and Deficiencies Unknown status NCT01981785
30 Consequences of DNA Repair and Telomere Defects on the Function of the Immune System: Application to CVID and Immune Deficiencies With Dysmorphic Syndromes Unknown status NCT02556359
31 Serum IgG Antibody to Streptococcus Pneumoniae, Haemophilus Influenzae Type b and Tetanus Toxoid in Patients With Primary Antibody Deficiencies Treated With Subcutaneous Immunoglobulin Infusions Completed NCT00661401
32 Randomized Study of Polyethylene-Glycol-Conjugated Interleukin 2 in Patients With Common Variable Immunodeficiency Completed NCT00004695 PEG-interleukin-2
33 Phenotype-genotype Correlation in a Sub-population of Severe Primary Immunodeficiency With Lymphoproliferation and Neutropenia Completed NCT03427593
34 Construction and Validation of a Health-related Quality of Life (HR-QOL) Instrument for Patients With Primary Antibody Deficiency Disease Completed NCT02542228
35 Effects of Intravenous Human Polyclonal Immunoglobulins G Infusion on Endothelial Function and Insulin Sensitivity in Humans Completed NCT03534479 Polyclonal IgG
36 The Immune Basis for the Gastrointestinal Complications of Common Variable Immunodeficiency Completed NCT00015431
37 Retrospective Study of the Breadth of Donor Options for Patients With Inherited Diseases Requiring Allogeneic Hematopoietic Stem Cell Transplant in the Era of Alternative Donor Transplants Using Post-Transplantation Cyclophosphamide Completed NCT03188419
38 The Impact of Exercise on Stress, Fatigue, and Quality of Life in Individuals With Primary Immunodeficiency Disease Completed NCT03211689
39 Improving the Diagnosis of Common Variable Immune Deficiency by Analysis of Innate and Adaptive Signaling Pathways Recruiting NCT03335605
40 Studies of Immune Regulation in Patients With Common Variable Immunodeficiency and Related Humoral Immunodeficiency Syndromes Recruiting NCT00001244
41 Natural History of Bronchiectasis Recruiting NCT00943514
42 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA
43 A Randomized Study Evaluating Set-up Reproducibility Using Cone Beam CT (CBCT) With and Without a Customized Vacuum Immobilization Device (CVID) in Rectal Cancer Patients Treated With Preoperative Pelvic Radiation Therapy Active, not recruiting NCT00937248
44 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone
45 Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older Terminated NCT02960399

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:

# Genetic test Affiliating Genes
1 Common Variable Agammaglobulinemia 29
2 Common Variable Immunodeficiency 29

Anatomical Context for Common Variable Immunodeficiency

MalaCards organs/tissues related to Common Variable Immunodeficiency:

40
T Cells, B Cells, Spleen, Bone Marrow, Liver, Bone, Monocytes

Publications for Common Variable Immunodeficiency

Articles related to Common Variable Immunodeficiency:

(show top 50) (show all 2783)
# Title Authors PMID Year
1
TACI is mutant in common variable immunodeficiency and IgA deficiency. 61 54 6
16007086 2005
2
Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. 54 6 61
16007087 2005
3
Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. 54 61 6
12577056 2003
4
Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency. 6 61
26279205 2015
5
The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function. 61 6
19605846 2009
6
B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. 6 61
19666484 2009
7
Novel mutations in a Japanese patient with CD19 deficiency. 6 61
17882224 2007
8
Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID). 61 6
17492055 2007
9
Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q. 6 61
16639407 2006
10
ICOS deficiency in patients with common variable immunodeficiency. 6 61
15507387 2004
11
Common variable immunodeficiency (CVID) in a family: an autosomal dominant mode of inheritance. 61 6
11583829 2001
12
Common Variable Immunodeficiency and Liver Involvement. 20 61
28785926 2018
13
Review: Diagnosing Common Variable Immunodeficiency Disorder in the Era of Genome Sequencing. 20 61
29030829 2018
14
Genetic CD21 deficiency is associated with hypogammaglobulinemia. 6
22035880 2012
15
Antibody deficiency due to a missense mutation in CD19 demonstrates the importance of the conserved tryptophan 41 in immunoglobulin superfamily domain formation. 6
21330302 2011
16
Defects in the CD19 complex predispose to glomerulonephritis, as well as IgG1 subclass deficiency. 6
21159371 2011
17
CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. 6
20237408 2010
18
CD20 deficiency in humans results in impaired T cell-independent antibody responses. 6
20038800 2010
19
An antibody-deficiency syndrome due to mutations in the CD19 gene. 6
16672701 2006
20
Phenotypic and clinical heterogeneity associated with monoallelic TNFRSF13B-A181E mutations in common variable immunodeficiency. 54 61
20156508 2010
21
Use of cytokine therapy in primary immunodeficiency. 54 61
19449141 2010
22
Selective IgA deficiency. 54 61
20101521 2010
23
Association of IL-4 and IL-10 gene promoter polymorphisms with common variable immunodeficiency. 54 61
19249119 2010
24
Mannose-binding lectin polymorphisms in common variable immunodeficiency. 54 61
19408100 2009
25
The outcome of patients with unclassified hypogammaglobulinemia in early childhood. 61 54
19196447 2009
26
Novel mutations in TACI (TNFRSF13B) causing common variable immunodeficiency. 61 54
19629655 2009
27
Nodular lymphoid hyperplasia in common variable immunodeficiency syndrome mimicking familial adenomatous polyposis on endoscopy. 54 61
19805964 2009
28
An evolutionary approach to the medical implications of the tumor necrosis factor receptor superfamily member 13B (TNFRSF13B) gene. 61 54
19494827 2009
29
Role of polymorphisms in the TNFRSF13B (TACI) gene in Spanish patients with immunoglobulin A deficiency. 54 61
19392801 2009
30
The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency. 54 61
19020530 2009
31
Chronic active gastritis in X-linked lymphoproliferative disease. 54 61
18223336 2008
32
Reduced interleukin-5 production by peripheral CD4+ T cells in common variable immunodeficiency patients. 54 61
18686101 2008
33
Analysis of genetic defects in patients with the common variable immunodeficiency phenotype in a single Taiwanese tertiary care hospital. 61 54
18051214 2007
34
Transmembrane activator and calcium modulator and cyclophilin ligand interactor enhances CD40-driven plasma cell differentiation. 61 54
17689597 2007
35
High serum levels of BAFF, APRIL, and TACI in common variable immunodeficiency. 54 61
17556024 2007
36
The clinical significance of immunoglobulin A deficiency. 61 54
17362578 2007
37
Frequency and clinical manifestations of patients with primary immunodeficiency disorders in Iran: update from the Iranian Primary Immunodeficiency Registry. 54 61
17024564 2006
38
TACI mutation in common variable immunodeficiency and IgA deficiency. 54 61
16899196 2006
39
The expression of CD40 on monocytes of children with primary humoral immunodeficiencies. 61 54
16641210 2006
40
CD8+HLA-DR+ T lymphocytes are increased in common variable immunodeficiency patients with impaired memory B-cell differentiation. 54 61
16413828 2006
41
TACI mutation with invasive polyclonal CD8+ T-cell lymphoproliferation in a patient with common variable immunodeficiency. 54 61
16630947 2006
42
The prevalence of humoral immunodeficiency in refractory rhinosinusitis: a retrospective analysis. 61 54
17256402 2006
43
Rapid whole blood flow cytometric test to detect ICOS deficiency in patients with common variable immunodeficiency. 61 54
16757923 2006
44
Common variable immunodeficiency and the complement system; low mannose-binding lectin levels are associated with bronchiectasis. 61 54
16297171 2005
45
TACItly changing tunes: farewell to a yin and yang of BAFF receptor and TACI in humoral immunity? New genetic defects in common variable immunodeficiency. 61 54
16264328 2005
46
Mutational analysis of human BAFF receptor TNFRSF13C (BAFF-R) in patients with common variable immunodeficiency. 54 61
16160919 2005
47
Normal ICOS, ICOSL and AID alleles in Danish patients with common variable immunodeficiency. 54 61
15963052 2005
48
Vitamin a deficiency in patients with common variable immunodeficiency. 61 54
15981093 2005
49
Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency. 61 54
15320910 2004
50
B lymphocytes from individuals with common variable immunodeficiency respond to B lymphocyte stimulator (BLyS protein) in vitro. 61 54
14597212 2003

Variations for Common Variable Immunodeficiency

ClinVar genetic disease variations for Common Variable Immunodeficiency:

6 (show top 50) (show all 549)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TNFRSF13C NM_052945.3(TNFRSF13C):c.62C>G (p.Pro21Arg) SNV Benign/Likely benign, risk factor 341883 rs77874543 22:42322716-42322716 22:41926712-41926712
2 TNFRSF13B NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) SNV Likely pathogenic, risk factor 5302 rs34557412 17:16852187-16852187 17:16948873-16948873
3 TNFRSF13B NM_012452.2(TNFRSF13B):c.579C>A (p.Cys193Ter) SNV Pathogenic 657318 rs72553885 17:16843692-16843692 17:16940378-16940378
4 RAG2 NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) SNV Pathogenic 13138 rs121918575 11:36614367-36614367 11:36592817-36592817
5 TNFRSF13B NM_012452.3(TNFRSF13B):c.62-1G>A SNV Pathogenic 853184 17:16855898-16855898 17:16952584-16952584
6 NFKB2 NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) SNV Pathogenic 65385 rs397514332 10:104161895-104161895 10:102402138-102402138
7 NFKB2 NM_001322934.2(NFKB2):c.2564del (p.Lys855fs) Deletion Pathogenic 65386 rs397514331 10:104161901-104161901 10:102402144-102402144
8 NFKB1 NM_003998.4(NFKB1):c.260T>G (p.Ile87Ser) SNV Pathogenic 827719 rs1578771120 4:103488145-103488145 4:102566988-102566988
9 NFKB1 NM_003998.4(NFKB1):c.293T>A (p.Val98Asp) SNV Pathogenic 827720 rs1578771197 4:103488178-103488178 4:102567021-102567021
10 NFKB1 NM_003998.4(NFKB1):c.843C>G (p.Ile281Met) SNV Pathogenic 827721 rs1578793298 4:103504030-103504030 4:102582873-102582873
11 NFKB1 NM_003998.4(NFKB1):c.1423del (p.Ala475fs) Deletion Pathogenic 827723 rs1578809101 4:103517416-103517416 4:102596259-102596259
12 NFKB1 NM_003998.4(NFKB1):c.159+1G>A SNV Pathogenic 976031 4:103455043-103455043 4:102533886-102533886
13 NFKB1 NM_003998.4(NFKB1):c.522_525dup (p.Leu176Ter) Duplication Pathogenic 982698 4:103498145-103498146 4:102576988-102576989
14 NFKB1 NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter) SNV Pathogenic 827726 rs1578793312 4:103504037-103504037 4:102582880-102582880
15 NFKB1 NM_003998.4(NFKB1):c.830dup (p.Lys278fs) Duplication Pathogenic 636694 rs1578790573 4:103501790-103501791 4:102580633-102580634
16 RAG2 NM_000536.4(RAG2):c.629T>C (p.Ile210Thr) SNV Pathogenic 827734 rs1590715754 11:36615090-36615090 11:36593540-36593540
17 TTC7A NM_020458.4(TTC7A):c.1802+3G>C SNV Pathogenic 827747 rs1572961263 2:47256526-47256526 2:47029387-47029387
18 TTC7A NM_020458.4(TTC7A):c.793C>T (p.Arg265Trp) SNV Pathogenic 827752 rs150269540 2:47220617-47220617 2:46993478-46993478
19 NFKB1 Deletion Pathogenic 827830 4:103370996-103528207
20 MANBA Deletion Pathogenic 827831 4:103436974-103652655
21 TNFRSF13B NM_012452.3(TNFRSF13B):c.198C>A (p.Cys66Ter) SNV Pathogenic 840923 17:16855761-16855761 17:16952447-16952447
22 TNFRSF13B NM_012452.2(TNFRSF13B):c.431C>A (p.Ser144Ter) SNV Pathogenic 5307 rs104894650 17:16852066-16852066 17:16948752-16948752
23 ICOS NM_012092.4(ICOS):c.181del (p.Ile61fs) Deletion Pathogenic 940397 2:204820479-204820479 2:203955756-203955756
24 TNFRSF13B NM_012452.2(TNFRSF13B):c.49del (p.Gln17fs) Deletion Pathogenic 538707 rs1555550717 17:16875341-16875341 17:16972027-16972027
25 TNFRSF13B NM_012452.3(TNFRSF13B):c.222_226GCAAG[1] (p.Gly76fs) Microsatellite Pathogenic 657940 rs1265262160 17:16852266-16852270 17:16948952-16948956
26 TNFRSF13B NM_012452.2(TNFRSF13B):c.572dup (p.Asp191fs) Duplication Pathogenic 582925 rs769165409 17:16843698-16843699 17:16940384-16940385
27 CD81 NM_004356.3(CD81):c.561+1G>A SNV Pathogenic 12743 rs587776775 11:2417201-2417201 11:2395971-2395971
28 MS4A1 MS4A1, IVS5DS, 11-BP INS AND 2-BP DEL Indel Pathogenic 17705
29 TNFRSF13B NM_012452.2(TNFRSF13B):c.431C>G (p.Ser144Ter) SNV Pathogenic 265340 rs104894650 17:16852066-16852066 17:16948752-16948752
30 CR2 NM_001877.5(CR2):c.2120G>A (p.Trp707Ter) SNV Pathogenic 35453 rs398122863 1:207647642-207647642 1:207474297-207474297
31 TNFRSF13B NM_012452.2(TNFRSF13B):c.95_96dupGA Microsatellite Pathogenic 647108 rs1303637368 17:16855862-16855863 17:16952548-16952549
32 TNFRSF13B TNFRSF13B, 1-BP INS, 204A Insertion Pathogenic 5305
33 TNFRSF13B NM_012452.2(TNFRSF13B):c.492C>G (p.Tyr164Ter) SNV Pathogenic 203368 rs72553882 17:16843779-16843779 17:16940465-16940465
34 NFKB1 NM_003998.4(NFKB1):c.730+4A>G SNV Pathogenic 210056 rs869320688 4:103500200-103500200 4:102579043-102579043
35 NFKB1 NM_003998.4(NFKB1):c.835+2T>G SNV Pathogenic 210057 rs869320689 4:103501798-103501798 4:102580641-102580641
36 NFKB1 NM_003998.4(NFKB1):c.465dup (p.Ala156fs) Duplication Pathogenic 210058 rs869320754 4:103498088-103498089 4:102576931-102576932
37 CD19 NM_001770.5(CD19):c.1464del (p.Ser489fs) Deletion Pathogenic 254196 rs886037921 16:28949121-28949121 16:28937800-28937800
38 CD19 NM_001770.5(CD19):c.947-1G>T SNV Pathogenic 254194 rs1567506566 16:28947473-28947473 16:28936152-28936152
39 CD19 NM_001770.5(CD19):c.156G>C (p.Trp52Cys) SNV Pathogenic 254195 rs886037920 16:28943734-28943734 16:28932413-28932413
40 TNFRSF13C TNFRSF13C, 24-BP DEL, NT89 Deletion Pathogenic 4459
41 TNFRSF13B NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter) Indel Pathogenic 5306 rs121908379 17:16843689-16843690 17:16940375-16940376
42 ICOS ICOS, 1,815-BP DEL Deletion Pathogenic 5501
43 CD19 CD19, 1-BP INS, 972A Insertion Pathogenic 18054
44 CD19 CD19, 2-BP DEL, 1384GA Deletion Pathogenic 18055
45 CD19 NM_001770.5(CD19):c.1653_*9delins23 Indel Pathogenic 254197 16:28950266-28950293 16:28938945-28938972
46 TNFRSF13B NM_012452.2(TNFRSF13B):c.61+1G>T SNV Pathogenic 647267 rs1016142312 17:16875328-16875328 17:16972014-16972014
47 CR2 NM_001006658.2(CR2):c.462T>A (p.Cys154Ter) SNV Pathogenic 638326 rs1572952530 1:207641888-207641888 1:207468543-207468543
48 TNFRSF13B NM_012452.2(TNFRSF13B):c.204dup (p.Leu69fs) Duplication Pathogenic/Likely pathogenic 322029 rs72553875 17:16852292-16852293 17:16948978-16948979
49 NFKB1 NM_003998.4(NFKB1):c.904dup (p.Ser302fs) Duplication Pathogenic/Likely pathogenic 430907 rs773694113 4:103504086-103504087 4:102582929-102582930
50 TNFRSF13B NM_012452.2(TNFRSF13B):c.542C>A (p.Ala181Glu) SNV Likely pathogenic 5303 rs72553883 17:16843729-16843729 17:16940415-16940415

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 KEGG:

36
# Name Kegg Source Accession
1 Primary immunodeficiency hsa05340

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

(show all 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B SH2D1A RAG2
2
Show member pathways
13.79 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B PRKCD NFKB1
3
Show member pathways
13.64 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B PRKCD NFKB1
4
Show member pathways
13.41 SH2D1A NFKB1 ICOS CD81 CD40LG CD19
5
Show member pathways
13.37 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B PRKCD NFKB1
6
Show member pathways
13.27 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B RAG2 PRKCD
7
Show member pathways
13.24 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B PRKCD NFKB1
8
Show member pathways
13.17 PRKCD NFKB1 IL2 CR2 CD81 CD19
9
Show member pathways
13.03 TNFSF13B TNFSF12 PRKCD NFKB2 NFKB1 BTK
10
Show member pathways
12.82 TNFSF13B TNFRSF13C TNFRSF13B IL2 ICOS CD40LG
11
Show member pathways
12.79 NFKB2 NFKB1 IL2 CR2 CD19 BTK
12
Show member pathways
12.64 TNFSF13B TNFRSF13C PRKCD NFKB2 NFKB1 IL2
13
Show member pathways
12.61 NFKB2 NFKB1 IL2 ICOS CD40LG BTK
14
Show member pathways
12.56 PRKCD NFKB1 IL2 ICOS CD40LG
15
Show member pathways
12.54 NFKB2 NFKB1 CR2 CD81 CD19 BTK
16
Show member pathways
12.48 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B PRKCD NFKB1
17
Show member pathways
12.42 PRKCD NFKB2 NFKB1 CD19 BTK
18
Show member pathways
12.4 PRKCD NFKB2 NFKB1 IL2
19
Show member pathways
12.39 TNFSF13B TNFRSF13C TNFRSF13B NFKB2 NFKB1 CR2
20
Show member pathways
12.36 PRKCD NFKB1 IL2 ICOS CD40LG
21
Show member pathways
12.36 PRKCD NFKB1 CR2 CD81 CD19 BTK
22 12.3 TNFRSF13C NFKB2 NFKB1 IL2
23
Show member pathways
12.28 PRKCD NFKB2 NFKB1 BTK
24
Show member pathways
12.19 PRKCD NFKB2 NFKB1 IL2 BTK
25 12.17 TNFSF13B TNFSF12 SH2D1A NFKB2 NFKB1 IL2
26 12.05 SH2D1A CD81 CD40LG CD19
27 11.93 MS4A1 IL2 CD19
28
Show member pathways
11.92 NFKB2 NFKB1 IL2
29 11.86 TNFSF13B TNFRSF13C NFKB2 NFKB1 CD40LG BTK
30 11.85 MS4A1 CR2 CD19
31 11.82 PRKCD NFKB1 IL2
32
Show member pathways
11.76 NFKB2 NFKB1 IL2
33
Show member pathways
11.74 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B CD40LG
34 11.7 MS4A1 IL2 CD19
35
Show member pathways
11.65 NFKB2 NFKB1 IL2 CD40LG
36
Show member pathways
11.6 TNFSF13B TNFSF12 TNFRSF13B NFKB2 NFKB1 CD40LG
37 11.52 TNFSF13B TNFRSF13C TNFRSF13B NFKB1 ICOS CR2
38 11.48 NFKB2 NFKB1 BTK
39 11.45 NFKB2 NFKB1 IL2
40
Show member pathways
11.17 NFKB2 NFKB1 IL2
41 10.99 TNFSF13B TNFSF12 NFKB1 IL2 CD40LG BTK
42 10.75 TNFRSF13C TNFRSF13B RAG2 ICOS CD40LG CD19
43 10.49 NFKB2 NFKB1

GO Terms for Common Variable Immunodeficiency

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.5 TTC7A TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B PRKCD

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.95 TNFSF13B TNFSF12 IL2 ICOS CR2 CD40LG
2 adaptive immune response GO:0002250 9.87 TNFRSF13C TNFRSF13B SH2D1A IL2 CD81 CD19
3 regulation of immune response GO:0050776 9.85 TNFSF13B SH2D1A CD81 CD40LG CD19
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.81 NFKB2 NFKB1 CD40LG BTK
5 regulation of complement activation GO:0030449 9.73 CR2 CD81 CD19
6 B cell differentiation GO:0030183 9.73 RAG2 MS4A1 CR2 CD40LG
7 positive regulation of T cell proliferation GO:0042102 9.71 TNFSF13B TNFRSF13C IL2 CD40LG
8 T cell costimulation GO:0031295 9.67 TNFSF13B TNFRSF13C ICOS CD40LG
9 tumor necrosis factor-mediated signaling pathway GO:0033209 9.65 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B CD40LG
10 negative regulation of B cell proliferation GO:0030889 9.55 TNFRSF13B BTK
11 immunoglobulin mediated immune response GO:0016064 9.54 PRKCD CD19
12 cellular response to angiotensin GO:1904385 9.52 PRKCD NFKB1
13 B cell costimulation GO:0031296 9.49 TNFSF13B TNFRSF13C
14 positive regulation of B cell proliferation GO:0030890 9.46 TNFSF13B TNFRSF13C IL2 CD81
15 immune system process GO:0002376 9.28 TNFSF13B TNFRSF13C TNFRSF13B SH2D1A IL2 CR2
16 B cell proliferation GO:0042100 9.26 PRKCD MS4A1 CR2 CD40LG

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.26 TNFSF13B TNFSF12 IL2 CD40LG
2 MHC class II protein complex binding GO:0023026 9.16 MS4A1 CD81
3 tumor necrosis factor receptor binding GO:0005164 8.8 TNFSF13B TNFSF12 CD40LG

Sources for Common Variable Immunodeficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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