CVID
MCID: CMM004
MIFTS: 69

Common Variable Immunodeficiency (CVID)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Common Variable Immunodeficiency

MalaCards integrated aliases for Common Variable Immunodeficiency:

Name: Common Variable Immunodeficiency 11 19 42 58 75 53 43 14 36 71 31
Cvid 11 19 42 58
Common Variable Agammaglobulinemia 11 28 5
Idiopathic Immunoglobulin Deficiency 19 58
Common Variable Immune Deficiency 19 42
Hypogamma-Globulinemia, Acquired 19 5
Acquired Hypogammaglobulinemia 11 71
Primary Hypogammaglobulinemia 19 58
Primary Antibody Deficiency 19 58
Common Variable Hypogamma-Globulinemia 19
Immunoglobulin Deficiency, Late-Onset 19
Common Variable Hypogammaglobulinemia 42
Immunodeficiency, Common Variable 42
Sporadic Hypogammaglobulinemia 11
Acquired Agammaglobulinemia 11

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Prevelance:

1-9/100000 (Specific population, Netherlands) 1-9/1000000 (France, Spain, Netherlands, United Kingdom, Italy, Germany, Turkey, Australia) <1/1000000 (Poland) 58

Age Of Onset:

All ages 58

Classifications:

Orphanet: 58  
Rare immunological diseases


Summaries for Common Variable Immunodeficiency

MedlinePlus Genetics: 42 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 ERK Signaling and MIF Mediated Glucocorticoid Regulation. The drugs Rifaximin and Budesonide have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and lung, and related phenotypes are chronic otitis media and brachycephaly

GARD: 19 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.

Orphanet: 58 Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.

Disease Ontology: 11 An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that esults in insufficient production of antibodies needed to respond to exposure of pathogens.

Wikipedia: 75 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 805)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency, common variable, 1 33.2 TNFRSF13B NFKB2 ICOS
2 immunodeficiency, common variable, 2 33.1 TNFRSF13C TNFRSF13B ICOS CR2 CD19
3 agammaglobulinemia 32.8 SH2D1A CR2 CD40LG CD19 BTK
4 primary agammaglobulinemia 32.7 TNFRSF13C TNFRSF13B
5 agammaglobulinemia, x-linked 32.5 TNFRSF13B LRBA CD40LG CD19 BTK
6 autoimmune lymphoproliferative syndrome, type iii 32.4 PRKCD LRBA
7 immune deficiency disease 32.2 TNFSF13B TNFRSF13B SH2D1A RAG2 MS4A1 IL2
8 autoimmune disease 32.1 TNFSF13B TNFRSF13C TNFRSF13B IL2 CR2 CD40LG
9 immunoglobulin alpha deficiency 32.1 TNFSF13B TNFRSF13C TNFRSF13B LRBA CD40LG CD19
10 immunoglobulin a deficiency 1 31.9 TNFRSF13B CD40LG BTK
11 thrombocytopenia due to platelet alloimmunization 31.9 TNFSF13B TNFRSF13B CD19
12 anemia, autoimmune hemolytic 31.7 TNFSF13B TNFRSF13B LRBA IL2 CR2 CD40LG
13 lymphoma, hodgkin, classic 31.7 TNFSF13B SH2D1A MS4A1 IL2
14 lymphoma 31.6 SH2D1A NFKB2 MS4A1 IL2 CR2 CD40LG
15 evans' syndrome 31.5 TNFRSF13B LRBA CD19
16 lymphoid interstitial pneumonia 31.5 TNFSF13B TNFRSF13C TNFRSF13B NFKB1 LRBA IL2
17 b-cell lymphoma 31.4 TNFSF13B TNFRSF13C NFKB2 MS4A1 CR2 BTK
18 lymphoma, non-hodgkin, familial 31.4 TNFSF13B TNFRSF13C TNFRSF13B SH2D1A MS4A1 IL2
19 lymphoproliferative syndrome 31.3 SH2D1A PRKCD LRBA IL2 CD40LG
20 lymphoma, mucosa-associated lymphoid type 31.3 TNFSF13B TNFRSF13C CR2 CD19 BTK
21 cd40 ligand deficiency 31.1 TNFRSF13C TNFRSF13B SH2D1A CD40LG CD19 BTK
22 immunodeficiency with hyper-igm, type 1 31.1 TNFSF13B TNFRSF13C TNFRSF13B RAG2 CD40LG CD19
23 progressive multifocal leukoencephalopathy 31.1 TNFSF13B IL2 CD19
24 burkitt lymphoma 31.0 TNFSF13B SH2D1A NFKB1 MS4A1 CR2 CD40LG
25 t cell deficiency 31.0 RAG2 IL2 CD40LG CD19
26 pneumocystosis 31.0 IL2 CD40LG CD19 BTK
27 dysgammaglobulinemia 31.0 TNFRSF13B SH2D1A LRBA
28 systemic lupus erythematosus 31.0 TNFSF13B TNFRSF13C TNFRSF13B RAG2 NFKB1 IL2
29 inflammatory bowel disease 31.0 TTC7A NFKB1 LRBA IL2 ICOS CD40LG
30 pfeiffer syndrome 31.0 SH2D1A IL2 CR2 CD40LG CD19
31 combined immunodeficiency 30.9 TTC7A TNFRSF13B SH2D1A RAG2 NFKB2 NFKB1
32 transient hypogammaglobulinemia 30.9 TNFRSF13C TNFRSF13B LRBA CR2 CD40LG CD19
33 marginal zone b-cell lymphoma 30.9 CR2 CD19 BTK
34 autoimmune lymphoproliferative syndrome 30.8 TNFRSF13B SH2D1A PRKCD LRBA IL2 CD40LG
35 behcet syndrome 30.8 TNFSF13B IL2 CD40LG CD19
36 follicular lymphoma 30.8 TNFSF13B TNFRSF13C TNFRSF13B MS4A1 CR2 CD40LG
37 hemophagocytic lymphohistiocytosis 30.7 SH2D1A IL2 CD19
38 systemic scleroderma 30.7 TNFSF13B IL2 CD19
39 b-cell non-hodgkin lymphoma 30.7 NFKB2 MS4A1
40 immunodeficiency with hyper-igm, type 4 30.7 TNFSF13B TNFRSF13C CD40LG
41 myeloma, multiple 30.6 TNFSF13B TNFRSF13B NFKB2 IL2 CD40LG CD19
42 good syndrome 30.6 TNFRSF13C TNFRSF13B CD19
43 b cell deficiency 30.6 TNFSF13B TNFRSF13C TNFRSF13B SH2D1A RAG2 PRKCD
44 selective igg deficiency disease 30.6 TNFRSF13C TNFRSF13B
45 congenital hypogammaglobulinemia 30.5 CD19 BTK
46 transient hypogammaglobulinemia of infancy 30.5 TNFRSF13C TNFRSF13B NFKB2 LRBA CR2 CD40LG
47 waldenstroem's macroglobulinemia 30.5 MS4A1 CD40LG CD19 BTK
48 acquired immunodeficiency syndrome 30.5 IL2 CR2 CD40LG
49 leukemia, chronic lymphocytic 30.5 TNFSF13B TNFRSF13C TNFRSF13B MS4A1 IL2 CR2
50 severe combined immunodeficiency 30.5 TTC7A RAG2 IL2 CD40LG CD19

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.16 BTK CD19 CD40LG CD81 CR2 ICOS
2 liver/biliary system MP:0005370 9.97 CD19 IL2 IRF2BP2 NFKB1 NFKB2 PRKCD
3 immune system MP:0005387 9.93 BTK CD19 CD40LG CD81 CR2 ICOS
4 neoplasm MP:0002006 9.91 BTK CD19 ICOS IL2 RAG2 TNFRSF13B
5 digestive/alimentary MP:0005381 9.85 BTK CD19 ICOS IL2 LRBA NFKB1
6 hematopoietic system MP:0005397 9.62 BTK CD19 CD40LG CD81 CR2 ICOS

Drugs & Therapeutics for Common Variable Immunodeficiency

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

(show top 50) (show all 89)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rifaximin Approved, Investigational Phase 4 80621-81-4 46783403 6436173
2
Budesonide Approved Phase 4 51333-22-3 5281004 40000 63006
3 Immunoglobulin G Phase 4
4 Complement System Proteins Phase 4
5 Complement C1s Phase 4
6 Complement C1 Inhibitor Protein Phase 4
7 Complement C1 Inactivator Proteins Phase 4
8 Immunoglobulins, Intravenous Phase 4
9 gamma-Globulins Phase 4
10 Rho(D) Immune Globulin Phase 4
11 Hormones Phase 4
12 Hormone Antagonists Phase 4
13 Anti-Inflammatory Agents Phase 4
14 glucocorticoids Phase 4
15 Bronchodilator Agents Phase 4
16 Anti-Asthmatic Agents Phase 4
17 Respiratory System Agents Phase 4
18 Immunoglobulins Phase 3
19 Antibodies Phase 3
20 Pharmaceutical Solutions Phase 3
21
Peginterferon alfa-2a Approved, Investigational Phase 2 198153-51-4
22
Ustekinumab Approved, Investigational Phase 1, Phase 2 815610-63-0
23
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
24
Mycophenolic acid Approved, Investigational Phase 2 24280-93-1 446541
25
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643
26
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
27
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
28
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
29
Pentostatin Approved, Investigational Phase 2 53910-25-1 439693
30
Coenzyme M Approved, Investigational Phase 2 3375-50-6 598 23662354
31
Melphalan Approved Phase 2 148-82-3 4053 460612
32
Abatacept Approved Phase 2 332348-12-6
33
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
34
Fludarabine Approved Phase 1, Phase 2 75607-67-9, 21679-14-1 30751 657237
35
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
36
Fisetin Experimental Phase 2 528-48-3
37 Anti-Infective Agents Phase 2
38 Antiviral Agents Phase 2
39 Interferon alpha-2 Phase 2
40 interferons Phase 2
41 Interferon-alpha Phase 2
42 Dermatologic Agents Phase 1, Phase 2
43 Interleukin-12 Phase 1, Phase 2
44 Anti-Bacterial Agents Phase 2
45 Antitubercular Agents Phase 2
46 Antibiotics, Antitubercular Phase 2
47 Immunologic Factors Phase 2
48 Immune Checkpoint Inhibitors Phase 2
49 Alkylating Agents Phase 1, Phase 2
50 Antineoplastic Agents, Alkylating Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 51)
# 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 Single-site, Open-Label, Pilot Study to Evaluate the Benefit of RUCONEST® in Subjects Who Experience ADRs Related to IVIG Infusions Completed NCT03576469 Phase 4
4 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
5 A Prospective Study of the Utility of Spirometry to Identify and Manage Immunoglobulin Replacement Dosage in Primary Antibody Deficiency in Patients With Potentially Reversible Airway Disease Not yet recruiting NCT05193552 Phase 4 Hizentra
6 Open-label Withdrawal Trial of Budesonide in Patients With Immune Mediated Enteropathies Terminated NCT03866538 Phase 4 Withdrawal of Oral Budesonide
7 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
8 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
9 A Phase III, Multicenter, Open-Label Study to Evaluate the Pharmacokinetics and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
10 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)
11 A Multicenter Study on the Efficacy, Safety and Pharmacokinetics of IgPro10 in Patients With Primary Immunodeficiency (PID) Completed NCT00168025 Phase 3 Immunoglobulins Intravenous (Human)
12 A Multicenter Extension Study on the Safety and Efficacy of IgPro10 in Patients With Primary Immunodeficiency (PID) Completed NCT00322556 Phase 3 Immunoglobulins Intravenous (Human)
13 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
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 (Leniolisib) in Patients With APDS/PASLI (Activated Phosphoinositide 3-kinase Delta Syndrome/ p110δ-activating Mutation Causing Senescent T Cells, Lymphadenopathy and Immunodeficiency) Completed NCT02435173 Phase 2, Phase 3 CDZ173
15 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
16 A Phase III, Multicenter, Open-Label Study To Evaluate The Efficacy, Safety, and Pharmacokinetics of Gammaplex® in Primary Immunodeficiency Diseases Completed NCT00278954 Phase 3
17 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
18 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
19 A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Patients With Inborn Errors of Immunity Recruiting NCT04339777 Phase 2 Busulfan test dose;Fludarabine;Busulfan;Alemtuzumab;Tacrolimus (Tacro);Mycophenolate mofetil (MMF);Cyclophosphamide (Cytoxan)
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;Reduced Intensity Conditioning;GVHD Prophylaxis
22 Abatacept for the Treatment of Common Variable Immunodeficiency With Interstitial Lung Disease Recruiting NCT04925375 Phase 2 Abatacept
23 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
24 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 Active, not recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
25 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
26 Senolytics as a Novel Treatment for Interstitial Lung Disease in Common Variable Immunodeficiency (CVID) Not yet recruiting NCT05593588 Phase 2 Fisetin;Placebo
27 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
28 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
29 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
30 Investigation of the Lymphocyte Surface Expression of Patients With Primary Immunodeficiency (Common Variable Immunodeficiency (CVID)), Compared to Controls Unknown status NCT01196702
31 Granulomatous-Lymphocytic Interstitial Lung Disease (GLILD) Diagnosed in Children and Young Adults With Common Variable Immunodeficiency Unknown status NCT03648567
32 Investigation of Molecular, Genetic and Cellular Mechanisms of Human Immune Disorders and Deficiencies Unknown status NCT01981785
33 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
34 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
35 Randomized Study of Polyethylene-Glycol-Conjugated Interleukin 2 in Patients With Common Variable Immunodeficiency Completed NCT00004695 PEG-interleukin-2
36 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
37 The Immune Basis for the Gastrointestinal Complications of Common Variable Immunodeficiency Completed NCT00015431
38 The Impact of Exercise on Stress, Fatigue, and Quality of Life in Individuals With Primary Immunodeficiency Disease Completed NCT03211689
39 Effects of Intravenous Human Polyclonal Immunoglobulins G Infusion on Endothelial Function and Insulin Sensitivity in Humans Completed NCT03534479 Polyclonal IgG
40 Phenotype-genotype Correlation in a Sub-population of Severe Primary Immunodeficiency With Lymphoproliferation and Neutropenia Completed NCT03427593
41 Construction and Validation of a Health-related Quality of Life (HR-QOL) Instrument for Patients With Primary Antibody Deficiency Disease Completed NCT02542228
42 Natural History of Bronchiectasis Recruiting NCT00943514
43 Vaccine-induced SARS-CoV-2-specific T Cell Responses in Patients With Primary Immune Deficiency Disease Recruiting NCT05321407
44 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;Fludarabine phosphate 30 mg;MESNA
45 Studies of Immune Regulation in Patients With Common Variable Immunodeficiency and Related Humoral Immunodeficiency Syndromes Recruiting NCT00001244
46 Improving the Diagnosis of Common Variable Immune Deficiency by Analysis of Innate and Adaptive Signaling Pathways Active, not recruiting NCT03335605
47 Early Detection of Primary Antibody Deficiencies in Primary Care Facilities by an Algorithm Driven Selection of Serologic Testing in Individuals at Risk. Active, not recruiting NCT05310604
48 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
49 Composition and Function of Gut Microbiota in Porto-sinusoidal Vascular Disease Associated With Variable Common Immunodeficiency Not yet recruiting NCT05481554
50 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone

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 28

Anatomical Context for Common Variable Immunodeficiency

Organs/tissues related to Common Variable Immunodeficiency:

MalaCards : T Cells, B Cells, Lung, Spleen, Bone Marrow, Liver, Bone

Publications for Common Variable Immunodeficiency

Articles related to Common Variable Immunodeficiency:

(show top 50) (show all 3709)
# Title Authors PMID Year
1
Phenotypic and clinical heterogeneity associated with monoallelic TNFRSF13B-A181E mutations in common variable immunodeficiency. 53 62 5
20156508 2010
2
Novel mutations in TACI (TNFRSF13B) causing common variable immunodeficiency. 53 62 5
19629655 2009
3
TACI mutation with invasive polyclonal CD8+ T-cell lymphoproliferation in a patient with common variable immunodeficiency. 53 62 5
16630947 2006
4
TACI is mutant in common variable immunodeficiency and IgA deficiency. 53 62 5
16007086 2005
5
Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. 53 62 5
16007087 2005
6
Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency. 62 5
29921932 2019
7
Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2. 62 5
30941118 2019
8
CVID-Associated Tumors: Czech Nationwide Study Focused on Epidemiology, Immunology, and Genetic Background in a Cohort of Patients With CVID. 62 5
30723478 2018
9
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond. 62 5
29867916 2018
10
Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype. 62 5
28778864 2017
11
Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency. 62 5
27379089 2016
12
Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes. 62 5
27123465 2016
13
TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development. 62 5
26100089 2015
14
Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. 62 5
24140114 2013
15
CVID-associated TACI mutations affect autoreactive B cell selection and activation. 62 5
24051380 2013
16
TACI mutations and impaired B-cell function in subjects with CVID and healthy heterozygotes. 62 5
23237420 2013
17
Clinical variability of family members with the C104R mutation in transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI). 62 5
22983507 2013
18
Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations. 62 5
22884984 2012
19
A novel compound heterozygous TACI mutation in an autosomal recessive common variable immunodeficiency (CVID) family. 62 5
22627058 2012
20
The impact of TACI mutations: from hypogammaglobulinemia in infancy to autoimmunity in adulthood. 62 5
22697072 2012
21
Rare mutations in TNFRSF13B increase the risk of asthma symptoms in Swedish children. 62 5
21850030 2012
22
TNFRSF13B/TACI alterations in Greek patients with antibody deficiencies. 62 5
21547394 2011
23
Functional analysis of transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) mutations associated with common variable immunodeficiency. 62 5
21419480 2011
24
The C76R transmembrane activator and calcium modulator cyclophilin ligand interactor mutation disrupts antibody production and B-cell homeostasis in heterozygous and homozygous mice. 62 5
21458042 2011
25
The C104R mutant impairs the function of transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) through haploinsufficiency. 62 5
20889194 2010
26
The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function. 62 5
19605846 2009
27
Role of TNFRSF13B variants in patients with common variable immunodeficiency. 62 5
19779048 2009
28
TACI mutations and disease susceptibility in patients with common variable immunodeficiency. 62 5
19210517 2009
29
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes. 62 5
18981294 2009
30
Transmembrane activator and calcium-modulator and cyclophilin ligand interactor mutations in common variable immunodeficiency. 62 5
18978466 2008
31
Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes. 62 5
17983875 2007
32
Translational mini-review series on immunodeficiency: molecular defects in common variable immunodeficiency. 62 5
17697196 2007
33
Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID). 62 5
17492055 2007
34
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. 62 5
17392797 2007
35
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. 62 5
17392798 2007
36
CTLA-4 gene exon-1 +49 A/G polymorphism: lack of association with autoimmune disease in patients with common variable immune deficiency. 62 5
17192819 2007
37
Memory switched B cell percentage and not serum immunoglobulin concentration is associated with clinical complications in children and adults with specific antibody deficiency and common variable immunodeficiency. 62 5
16782407 2006
38
Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study. 5
34975878 2021
39
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies. 5
31203817 2019
40
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting. 5
30665703 2019
41
Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings. 5
31681265 2019
42
Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders. 5
30290665 2018
43
Early-onset hypogammaglobulinemia: A survey of 44 patients. 5
25959671 2015
44
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations. 5
26046366 2015
45
A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation. 5
25569260 2015
46
Antibody deficiency diseases. 5
18200502 2008
47
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
48
Use of cytokine therapy in primary immunodeficiency. 53 62
19449141 2010
49
Association of IL-4 and IL-10 gene promoter polymorphisms with common variable immunodeficiency. 53 62
19249119 2010
50
Selective IgA deficiency. 53 62
20101521 2010

Variations for Common Variable Immunodeficiency

ClinVar genetic disease variations for Common Variable Immunodeficiency:

5 (show top 50) (show all 355)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNFRSF13B NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) SNV Conflicting Interpretations Of Pathogenicity; Risk Factor
Pathogenic
Likely Pathogenic
Not Provided
5302 rs34557412 GRCh37: 17:16852187-16852187
GRCh38: 17:16948873-16948873
2 TNFRSF13B NM_012452.3(TNFRSF13B):c.198C>A (p.Cys66Ter) SNV Pathogenic
840923 rs144718007 GRCh37: 17:16855761-16855761
GRCh38: 17:16952447-16952447
3 TNFRSF13B NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter) INDEL Pathogenic
5306 rs121908379 GRCh37: 17:16843689-16843690
GRCh38: 17:16940375-16940376
4 TNFRSF13B NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter) SNV Pathogenic
203368 rs72553882 GRCh37: 17:16843779-16843779
GRCh38: 17:16940465-16940465
5 TNFRSF13B NM_012452.3(TNFRSF13B):c.579C>A (p.Cys193Ter) SNV Pathogenic
657318 rs72553885 GRCh37: 17:16843692-16843692
GRCh38: 17:16940378-16940378
6 TNFRSF13B NM_012452.3(TNFRSF13B):c.431C>G (p.Ser144Ter) SNV Pathogenic
265340 rs104894650 GRCh37: 17:16852066-16852066
GRCh38: 17:16948752-16948752
7 RAG2 NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) SNV Pathogenic
13138 rs121918575 GRCh37: 11:36614367-36614367
GRCh38: 11:36592817-36592817
8 NFKB2 NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) SNV Pathogenic
65385 rs397514332 GRCh37: 10:104161895-104161895
GRCh38: 10:102402138-102402138
9 TNFRSF13B NM_012452.3(TNFRSF13B):c.552C>A (p.Cys184Ter) SNV Pathogenic
1071649 GRCh37: 17:16843719-16843719
GRCh38: 17:16940405-16940405
10 TNFRSF13B NM_012452.3(TNFRSF13B):c.62-2A>G SNV Pathogenic
1379832 GRCh37: 17:16855899-16855899
GRCh38: 17:16952585-16952585
11 TNFRSF13B NM_012452.3(TNFRSF13B):c.95_96dup (p.Ser33fs) MICROSAT Pathogenic
647108 rs1303637368 GRCh37: 17:16855862-16855863
GRCh38: 17:16952548-16952549
12 TNFRSF13B NM_012452.3(TNFRSF13B):c.61+1G>T SNV Pathogenic
647267 rs1016142312 GRCh37: 17:16875328-16875328
GRCh38: 17:16972014-16972014
13 TNFRSF13B NM_012452.3(TNFRSF13B):c.227_231del (p.Gly76fs) MICROSAT Pathogenic
657940 rs1265262160 GRCh37: 17:16852266-16852270
GRCh38: 17:16948952-16948956
14 TNFRSF13B NM_012452.3(TNFRSF13B):c.62-1G>A SNV Pathogenic
853184 rs759649059 GRCh37: 17:16855898-16855898
GRCh38: 17:16952584-16952584
15 NFKB1 NM_003998.4(NFKB1):c.830dup (p.Lys278fs) DUP Pathogenic
636694 rs1578790573 GRCh37: 4:103501790-103501791
GRCh38: 4:102580633-102580634
16 RAG2 NM_000536.4(RAG2):c.629T>C (p.Ile210Thr) SNV Pathogenic
827734 rs1590715754 GRCh37: 11:36615090-36615090
GRCh38: 11:36593540-36593540
17 NFKB1 DEL Pathogenic
827830 GRCh37: 4:103370996-103528207
GRCh38:
18 overlap with 2 genes DEL Pathogenic
827831 GRCh37: 4:103436974-103652655
GRCh38:
19 NFKB1 NM_003998.4(NFKB1):c.260T>G (p.Ile87Ser) SNV Pathogenic
827719 rs1578771120 GRCh37: 4:103488145-103488145
GRCh38: 4:102566988-102566988
20 NFKB1 NM_003998.4(NFKB1):c.293T>A (p.Val98Asp) SNV Pathogenic
827720 rs1578771197 GRCh37: 4:103488178-103488178
GRCh38: 4:102567021-102567021
21 NFKB1 NM_003998.4(NFKB1):c.843C>G (p.Ile281Met) SNV Pathogenic
827721 rs1578793298 GRCh37: 4:103504030-103504030
GRCh38: 4:102582873-102582873
22 NFKB1 NM_003998.4(NFKB1):c.1423del (p.Ala475fs) DEL Pathogenic
827723 rs1578809101 GRCh37: 4:103517416-103517416
GRCh38: 4:102596259-102596259
23 TTC7A NM_020458.4(TTC7A):c.793C>T (p.Arg265Trp) SNV Pathogenic
827752 rs150269540 GRCh37: 2:47220617-47220617
GRCh38: 2:46993478-46993478
24 TTC7A NM_020458.4(TTC7A):c.1802+3G>C SNV Pathogenic
827747 rs1572961263 GRCh37: 2:47256526-47256526
GRCh38: 2:47029387-47029387
25 TNFRSF13B NM_012452.3(TNFRSF13B):c.431C>A (p.Ser144Ter) SNV Pathogenic
5307 rs104894650 GRCh37: 17:16852066-16852066
GRCh38: 17:16948752-16948752
26 TNFRSF13B NM_012452.3(TNFRSF13B):c.49del (p.Gln17fs) DEL Pathogenic
538707 rs1555550717 GRCh37: 17:16875341-16875341
GRCh38: 17:16972027-16972027
27 TNFRSF13B NM_012452.3(TNFRSF13B):c.572dup (p.Asp191fs) DUP Pathogenic
582925 rs769165409 GRCh37: 17:16843698-16843699
GRCh38: 17:16940384-16940385
28 overlap with 44 genes NC_000017.10:g.(?_16842861)_(19578885_?)del DEL Pathogenic
1352177 GRCh37: 17:16842861-19578885
GRCh38:
29 TNFRSF13B NM_012452.3(TNFRSF13B):c.61+2T>C SNV Pathogenic
1436172 GRCh37: 17:16875327-16875327
GRCh38: 17:16972013-16972013
30 TNFRSF13B NM_012452.3(TNFRSF13B):c.61+1G>A SNV Pathogenic
1455440 GRCh37: 17:16875328-16875328
GRCh38: 17:16972014-16972014
31 TNFRSF13B NM_012452.3(TNFRSF13B):c.298dup (p.Cys100fs) DUP Pathogenic
1456816 GRCh37: 17:16852198-16852199
GRCh38: 17:16948884-16948885
32 TNFRSF13B NM_012452.3(TNFRSF13B):c.25C>T (p.Arg9Ter) SNV Pathogenic
1422026 GRCh37: 17:16875365-16875365
GRCh38: 17:16972051-16972051
33 TNFRSF13B NM_012452.3(TNFRSF13B):c.497del (p.Thr166fs) DEL Pathogenic
1401351 GRCh37: 17:16843774-16843774
GRCh38: 17:16940460-16940460
34 TNFRSF13B NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) DUP Pathogenic/Likely Pathogenic
322029 rs72553875 GRCh37: 17:16852292-16852293
GRCh38: 17:16948978-16948979
35 TNFRSF13B NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) SNV Pathogenic/Likely Pathogenic
Likely Pathogenic
Likely Pathogenic
5303 rs72553883 GRCh37: 17:16843729-16843729
GRCh38: 17:16940415-16940415
36 TNFRSF13B NC_000017.10:g.(?_16842841)_(16855917_?)del DEL Likely Pathogenic
1068411 GRCh37: 17:16842841-16855917
GRCh38:
37 CR2 NM_001006658.3(CR2):c.2334T>A (p.Cys778Ter) SNV Likely Pathogenic
930314 rs1658388636 GRCh37: 1:207648179-207648179
GRCh38: 1:207474834-207474834
38 TNFRSF13B NM_012452.3(TNFRSF13B):c.102C>A (p.Cys34Ter) SNV Likely Pathogenic
1333965 GRCh37: 17:16855857-16855857
GRCh38: 17:16952543-16952543
39 TNFRSF13B NM_012452.3(TNFRSF13B):c.61+2T>A SNV Likely Pathogenic
942527 rs760885614 GRCh37: 17:16875327-16875327
GRCh38: 17:16972013-16972013
40 NFKB1 NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter) SNV Likely Pathogenic
827726 rs1578793312 GRCh37: 4:103504037-103504037
GRCh38: 4:102582880-102582880
41 TNFRSF13B NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) SNV Likely Pathogenic
Conflicting Interpretations Of Pathogenicity
618436 rs72553877 GRCh37: 17:16852237-16852237
GRCh38: 17:16948923-16948923
42 TNFRSF13B NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr) SNV Likely Pathogenic
645207 rs72553879 GRCh37: 17:16852186-16852186
GRCh38: 17:16948872-16948872
43 TNFRSF13B NM_012452.3(TNFRSF13B):c.593G>A (p.Arg198His) SNV Conflicting Interpretations Of Pathogenicity
710701 rs150974807 GRCh37: 17:16843678-16843678
GRCh38: 17:16940364-16940364
44 TNFRSF13B NM_012452.3(TNFRSF13B):c.604C>T (p.Arg202Cys) SNV Uncertain Significance
618435 rs143562358 GRCh37: 17:16843667-16843667
GRCh38: 17:16940353-16940353
45 TNFRSF13B NM_012452.3(TNFRSF13B):c.788C>T (p.Thr263Ile) SNV Uncertain Significance
1696714 GRCh37: 17:16842955-16842955
GRCh38: 17:16939641-16939641
46 TNFRSF13B NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg) SNV Uncertain Significance
440340 rs143027621 GRCh37: 17:16843759-16843759
GRCh38: 17:16940445-16940445
47 TNFRSF13B NM_012452.3(TNFRSF13B):c.236A>G (p.Tyr79Cys) SNV Uncertain Significance
281110 rs72553876 GRCh37: 17:16852261-16852261
GRCh38: 17:16948947-16948947
48 TNFRSF13B NM_012452.3(TNFRSF13B):c.41G>A (p.Arg14His) SNV Uncertain Significance
618434 rs200309474 GRCh37: 17:16875349-16875349
GRCh38: 17:16972035-16972035
49 TNFRSF13C NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln) SNV Uncertain Significance
341877 rs150374940 GRCh37: 22:42322155-42322155
GRCh38: 22:41926151-41926151
50 TNFRSF13B NM_012452.3(TNFRSF13B):c.58C>T (p.Arg20Cys) SNV Uncertain Significance
Uncertain Significance
577672 rs200013015 GRCh37: 17:16875332-16875332
GRCh38: 17:16972018-16972018

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 all 45)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B PRKCD NFKB1
2
Show member pathways
13.54 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B PRKCD NFKB1
3
Show member pathways
13.46 SH2D1A NFKB1 ICOS CD81 CD40LG CD19
4
Show member pathways
13.41 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B SH2D1A RAG2
5
Show member pathways
13.39 PRKCD NFKB2 NFKB1 IL2 CR2 CD81
6
Show member pathways
13.32 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B PRKCD NFKB1
7
Show member pathways
13.2 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B PRKCD NFKB1
8
Show member pathways
13.15 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B RAG2 PRKCD
9
Show member pathways
12.62 TNFSF13B TNFRSF13C PRKCD NFKB2 NFKB1 IL2
10
Show member pathways
12.59 PRKCD NFKB1 CR2 CD40LG
11
Show member pathways
12.55 PRKCD NFKB2 NFKB1 BTK
12
Show member pathways
12.53 NFKB2 NFKB1 ICOS BTK
13
Show member pathways
12.52 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B PRKCD NFKB1
14
Show member pathways
12.37 PRKCD NFKB2 NFKB1 IL2
15
Show member pathways
12.26 PRKCD NFKB2 NFKB1 BTK
16
Show member pathways
12.24 PRKCD NFKB1 CD19 BTK
17
Show member pathways
12.21 BTK CD19 CD81 CR2 NFKB1 NFKB2
18
Show member pathways
12.18 CD40LG ICOS IL2 NFKB1
19
Show member pathways
12.09 TNFSF13B TNFRSF13C TNFRSF13B NFKB2 NFKB1 CR2
20
Show member pathways
12.07 NFKB1 IL2 ICOS CD40LG
21 12 CD19 CD40LG CD81 SH2D1A
22
Show member pathways
11.94 NFKB2 NFKB1 IL2
23 11.92 MS4A1 IL2 CD19
24 11.9 PRKCD NFKB1 IL2
25
Show member pathways
11.9 IL2 NFKB1 NFKB2
26 11.84 TNFSF13B TNFSF12 SH2D1A NFKB2 NFKB1 IL2
27 11.8 PRKCD NFKB1 IL2
28
Show member pathways
11.75 NFKB2 NFKB1 IL2
29 11.7 NFKB2 IL2 CD40LG
30 11.69 CD19 IL2 MS4A1
31 11.61 NFKB1 CD19 BTK
32
Show member pathways
11.61 NFKB2 NFKB1 IL2 CD40LG
33
Show member pathways
11.6 TNFSF13B TNFSF12 TNFRSF13B NFKB2 NFKB1 CD40LG
34 11.58 TNFSF13B NFKB1 CD40LG
35 11.5 CD40LG NFKB1 NFKB2 PRKCD
36 11.49 PRKCD NFKB2 NFKB1
37 11.48 CD19 CD40LG CR2 ICOS IL2 MS4A1
38 11.46 NFKB2 NFKB1 IL2 CD40LG
39 11.41 NFKB2 NFKB1 IL2
40 11.2 CR2 CD81 CD19
41
Show member pathways
11.16 NFKB2 NFKB1 IL2
42 10.93 TNFSF13B TNFSF12 NFKB1 IL2 CD40LG BTK
43 10.7 NFKB2 NFKB1
44 10.65 NFKB2 NFKB1
45 10.59 NFKB1 NFKB2

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 NF-kappaB complex GO:0071159 8.92 NFKB2 NFKB1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 10.19 TNFSF13B TNFSF12 IL2 ICOS CR2 CD40LG
2 adaptive immune response GO:0002250 10.15 TNFRSF13C TNFRSF13B SH2D1A IL2 CD81 CD19
3 B cell differentiation GO:0030183 9.96 TNFSF13B RAG2 MS4A1 CR2 CD40LG
4 positive regulation of T cell proliferation GO:0042102 9.95 TNFSF13B TNFRSF13C IL2 CD40LG
5 T cell costimulation GO:0031295 9.92 CD40LG ICOS TNFRSF13C TNFSF13B
6 B cell proliferation GO:0042100 9.85 CD40LG CR2 MS4A1 PRKCD TNFSF13B
7 germinal center formation GO:0002467 9.83 TNFSF13B NFKB2
8 B cell costimulation GO:0031296 9.78 TNFSF13B TNFRSF13C
9 cell communication GO:0007154 9.69 TNFSF13B TNFSF12 CD40LG
10 positive regulation of B cell proliferation GO:0030890 9.65 TNFSF13B TNFRSF13C IL2 CD81 BTK
11 negative regulation of macromolecule metabolic process GO:0010605 9.63 NFKB2 NFKB1
12 signaling GO:0023052 9.61 CD40LG TNFSF12 TNFSF13B
13 immune system process GO:0002376 9.28 TNFSF13B TNFRSF13C TNFRSF13B SH2D1A IL2 CR2

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

# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor receptor binding GO:0005164 9.1 TNFSF13B TNFSF12 CD40LG

Sources for Common Variable Immunodeficiency

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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