CVID
MCID: CMM004
MIFTS: 71

Common Variable Immunodeficiency (CVID)

Categories: Blood diseases, Gastrointestinal diseases, Immune diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Common Variable Immunodeficiency

MalaCards integrated aliases for Common Variable Immunodeficiency:

Name: Common Variable Immunodeficiency 39 12 77 54 26 60 38 30 56 6 45 15 74
Cvid 12 54 26 60
Idiopathic Immunoglobulin Deficiency 54 60
Common Variable Immune Deficiency 54 26
Acquired Hypogammaglobulinemia 12 74
Primary Hypogammaglobulinemia 54 60
Primary Antibody Deficiency 54 60
Common Variable Hypogamma-Globulinemia 54
Immunoglobulin Deficiency, Late-Onset 54
Common Variable Hypogammaglobulinemia 26
Common Variable Agammaglobulinemia 12
Immunodeficiency, Common Variable 26
Hypogamma-Globulinemia, Acquired 54
Sporadic Hypogammaglobulinemia 12
Acquired Agammaglobulinemia 12

Characteristics:

Orphanet epidemiological data:

60
common variable immunodeficiency
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/100000; Age of onset: All ages;

Classifications:

Orphanet: 60  
Rare immunological diseases


Summaries for Common Variable Immunodeficiency

Genetics Home Reference : 26 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.

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 Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include b cells, lung and t cells, and related phenotypes are chronic otitis media and brachycephaly

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).

NIH Rare Diseases : 54 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.

Wikipedia : 77 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 349)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency, common variable, 1 34.0 ICOS NFKB2
2 immunodeficiency, common variable, 2 33.5 CD19 CR2 ICOS TNFRSF13B TNFRSF13C
3 agammaglobulinemia 32.7 BTK CD19 CR2
4 primary agammaglobulinemia 32.3 TNFRSF13B TNFRSF13C
5 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 31.6 BTK CD40LG IL2 SH2D1A
6 immunoglobulin a deficiency 1 30.9 BTK CD40LG TNFRSF13B
7 agammaglobulinemia, x-linked 30.8 BTK CD40LG SH2D1A
8 autoimmune disease 30.7 CD40LG IL2 TNFRSF13C TNFSF13B
9 systemic lupus erythematosus 30.6 CD19 CD40LG CR2 IL2 TNFRSF13B TNFRSF13C
10 b-cell lymphomas 30.4 BTK MS4A1 NFKB2 TNFRSF13C TNFSF13B
11 pfeiffer syndrome 30.4 CD40LG CR2 SH2D1A
12 lymphoproliferative syndrome 30.3 CD27 IL2 PRKCD SH2D1A
13 hemophagocytic lymphohistiocytosis 30.2 CD27 CR2 SH2D1A
14 autoimmune lymphoproliferative syndrome 30.2 IL2 LRBA PRKCD
15 lymphoma, non-hodgkin, familial 30.2 CD19 CD27 CR2 IL2 MS4A1 SH2D1A
16 burkitt lymphoma 30.1 CD40LG CR2 MS4A1 SH2D1A TNFSF13B
17 leukemia, chronic lymphocytic 29.9 CD19 CD27 CD40LG CR2 IL2 MS4A1
18 b cell deficiency 29.7 BTK CD19 CD27 CD40LG CR2 NFKB2
19 immunodeficiency, common variable, 14 12.6
20 immunodeficiency, common variable, 10 12.4
21 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency 12.4
22 lrba deficiency 11.8
23 immunodeficiency-centromeric instability-facial anomalies syndrome 1 11.7
24 immunodeficiency, common variable, 3 11.5
25 immunodeficiency, common variable, 4 11.5
26 immunodeficiency, common variable, 5 11.5
27 immunodeficiency, common variable, 6 11.5
28 immunodeficiency, common variable, 7 11.5
29 immunodeficiency, common variable, 11 11.5
30 familial cold autoinflammatory syndrome 3 11.4
31 autoimmune lymphoproliferative syndrome, type iii 11.4
32 immunoglobulin a deficiency 2 11.3
33 immunoglobulin g deficiency 11.3
34 lymphoproliferative syndrome, x-linked, 2 11.1
35 bronchiectasis with or without elevated sweat chloride 1 11.0
36 bronchiectasis with or without elevated sweat chloride 2 11.0
37 bronchiectasis with or without elevated sweat chloride 3 11.0
38 immunodeficiency, common variable, 8, with autoimmunity 11.0
39 immunodeficiency, common variable, 12 11.0
40 immunodeficiency, common variable, 13 11.0
41 bap1 tumor predisposition syndrome 10.7
42 cryptococcal meningitis 10.5 TNFRSF13B TNFRSF13C TNFSF13B
43 igg4-related disease 10.5 TNFSF13 TNFSF13B
44 immunodeficiency with hyper-igm, type 4 10.5 CD40LG TNFSF13B
45 immunoglobulin alpha deficiency 10.5
46 lobomycosis 10.5 CD19 CR2
47 leukocyte disease 10.5 CD19 CR2 IL2
48 lung disease 10.5
49 autoimmune disease of musculoskeletal system 10.5 CD19 CD40LG IL2 TNFSF13B
50 fixed drug eruption 10.5 CD27 IL2

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:

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chronic otitis media 60 33 hallmark (90%) Very frequent (99-80%) HP:0000389
2 brachycephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000248
3 immunodeficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002721
4 decreased antibody level in blood 60 33 hallmark (90%) Very frequent (99-80%) HP:0004313
5 lymphopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001888
6 pneumonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002090
7 autoimmune thrombocytopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001973
8 recurrent bronchitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002837
9 splenomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0001744
10 hemolytic anemia 60 33 frequent (33%) Frequent (79-30%) HP:0001878
11 anal atresia 60 33 frequent (33%) Frequent (79-30%) HP:0002023
12 purpura 60 33 frequent (33%) Frequent (79-30%) HP:0000979
13 lymphadenopathy 60 33 frequent (33%) Frequent (79-30%) HP:0002716
14 bronchiectasis 60 33 frequent (33%) Frequent (79-30%) HP:0002110
15 elevated hepatic transaminase 33 frequent (33%) HP:0002910
16 arthralgia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002829
17 emphysema 60 33 occasional (7.5%) Occasional (29-5%) HP:0002097
18 failure to thrive in infancy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001531
19 vasculitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002633
20 lymphoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002665
21 gastrointestinal stroma tumor 60 33 occasional (7.5%) Occasional (29-5%) HP:0100723
22 restrictive ventilatory defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0002091
23 posterior pharyngeal cleft 60 33 occasional (7.5%) Occasional (29-5%) HP:0006783
24 recurrent respiratory infections 60 Very frequent (99-80%)
25 elevated hepatic transaminases 60 Frequent (79-30%)
26 otitis media 60 Very frequent (99-80%)
27 abnormality of the liver 60 Frequent (79-30%)

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.26 BTK CD19 CD27 CD40LG CD81 CR2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.4 CD40LG IL2 NFKB1 NFKB2 TNFSF12
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 BTK CD27 CD40LG IL2 NFKB1 NFKB2

MGI Mouse Phenotypes related to Common Variable Immunodeficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.16 BTK CD19 CD27 CD40LG CD81 CR2
2 digestive/alimentary MP:0005381 9.8 BTK CD19 ICOS IL2 NFKB1 NFKB2
3 homeostasis/metabolism MP:0005376 9.8 BTK CD19 CD40LG CD81 CR2 ICOS
4 immune system MP:0005387 9.62 BTK CD19 CD27 CD40LG CD81 CR2

Drugs & Therapeutics for Common Variable Immunodeficiency

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

(show top 50) (show all 92)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rifaximin Approved, Investigational Phase 4 80621-81-4 6436173 46783403
2 Anti-Infective Agents Phase 4,Phase 2,Not Applicable
3 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
4 Immunoglobulins Phase 4,Phase 3,Not Applicable
5 Antibodies Phase 4,Phase 3,Not Applicable
6 Gastrointestinal Agents Phase 4,Not Applicable
7 Anti-Bacterial Agents Phase 4
8 Immunoglobulin G Phase 4,Phase 3,Not Applicable
9 Rho(D) Immune Globulin Phase 4,Phase 3,Not Applicable
10 Immunoglobulins, Intravenous Phase 4,Phase 3,Not Applicable
11 gamma-Globulins Phase 4,Phase 3,Not Applicable
12 Immunosuppressive Agents Phase 4,Phase 1,Phase 2,Not Applicable
13 Complement C1 Inhibitor Protein Phase 4
14 Complement C1s Phase 4
15 Complement System Proteins Phase 4,Not Applicable
16 Complement C1 Inactivator Proteins Phase 4
17 Complement Inactivating Agents Phase 4
18 Pharmaceutical Solutions Phase 3,Phase 2,Not Applicable
19
Peginterferon alfa-2a Approved, Investigational Phase 2 198153-51-4 5360545
20
Cyclophosphamide Approved, Investigational Phase 2,Not Applicable 6055-19-2, 50-18-0 2907
21
Pentostatin Approved, Investigational Phase 2 53910-25-1 40926 439693
22
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
23
Busulfan Approved, Investigational Phase 2,Phase 1,Not Applicable 55-98-1 2478
24
Mycophenolic acid Approved Phase 2 24280-93-1 446541
25
Mesna Approved, Investigational Phase 2,Not Applicable 3375-50-6 598
26
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
27
Prednisone Approved, Vet_approved Phase 2,Not Applicable 53-03-2 5865
28
Fludarabine Approved Phase 1, Phase 2,Phase 2,Not Applicable 75607-67-9, 21679-14-1 30751
29
Thiotepa Approved, Investigational Phase 1, Phase 2,Phase 2 52-24-4 5453
30
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
31
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
32
Ustekinumab Approved, Investigational Phase 1, Phase 2 815610-63-0
33 Interferon-alpha Phase 2
34 interferons Phase 2
35 Interferon alpha-2 Phase 2
36 Antiviral Agents Phase 2,Not Applicable
37 Interleukin-12 Phase 1, Phase 2
38 Antineoplastic Agents, Alkylating Phase 1, Phase 2,Phase 2,Not Applicable
39 Antimetabolites, Antineoplastic Phase 1, Phase 2,Phase 2,Not Applicable
40 Alkylating Agents Phase 1, Phase 2,Phase 2,Not Applicable
41 Thymoglobulin Phase 1, Phase 2
42 Antilymphocyte Serum Phase 1, Phase 2,Not Applicable
43 Antimetabolites Phase 1, Phase 2,Phase 2,Not Applicable
44 Antineoplastic Agents, Immunological Phase 2,Not Applicable
45 Antirheumatic Agents Phase 2,Not Applicable
46 Dermatologic Agents Phase 1, Phase 2,Not Applicable
47 Heptavalent Pneumococcal Conjugate Vaccine Phase 2
48 Vaccines Phase 2,Not Applicable
49
Xylometazoline Approved, Investigational Phase 1 526-36-3 5709
50 Immunoglobulin A Phase 1

Interventional clinical trials:

(show all 48)
# Name Status NCT ID Phase Drugs
1 The Rifaximin Study in CVID Completed NCT01946906 Phase 4 Rifaximin
2 Efficacy and Safety of Vivaglobin® in Previously Untreated Patients With Primary Immunodeficiency Completed NCT00520494 Phase 4 Vivaglobin
3 A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficiency Completed NCT01289847 Phase 4
4 A 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® Completed NCT02247141 Phase 3
6 Safety and Efficacy of Intravenous Immunoglobulin IgPro10 in Patients With Primary Immunodeficiencies (PID) Completed NCT00322556 Phase 3 Immunoglobulins Intravenous (Human)
7 Efficacy and Safety of Intravenous Immunoglobulin IgPro10 in Patients With Primary Immunodeficiencies (PID) Completed NCT00168025 Phase 3 Immunoglobulins Intravenous (Human)
8 Efficacy and Safety of Intravenous Immunoglobulin IVIG-F10 in Patients With Primary Immunodeficiencies (PID) Completed NCT00168012 Phase 3 Immunoglobulins Intravenous (Human)
9 Study of Subcutaneous Immune Globulin in Patients Requiring IgG Replacement Therapy Completed NCT00542997 Phase 3
10 Pharmacokinetics (PK) and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
11 Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
12 Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases. Completed NCT00278954 Phase 3
13 Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients Completed NCT00220766 Phase 3 Immune Globulin Intravenous [Human], 10% Caprylate/Chromatography Purified;Dextrose, 5% in Water
14 A Clinical Study of Intravenous Immunoglobulin Completed NCT00468273 Phase 3 Immune Globulin Intravenous (Human) Omr-IgG-am IGIV
15 Study of Efficacy of CDZ173 in Patients With APDS/PASLI Recruiting NCT02435173 Phase 2, Phase 3 CDZ173
16 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
17 Pilot Trial of Allogeneic Blood or Marrow Transplanation for Primary Immunodeficiencies Recruiting NCT02579967 Phase 2 Immunosuppression Only Conditioning;Reduced Intensity Conditioning;Myeloablative Conditioning;GVHD Prophylaxis
18 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
19 Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
20 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
21 Study of Safety, Tolerability, and Efficacy of Ustekinumab for Symptomatic Gastrointestinal Inflammation Associated With Common Variable Immunodeficiency Active, not recruiting NCT02199496 Phase 1, Phase 2
22 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Enrolling by invitation NCT01852370 Phase 1, Phase 2
23 "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);Placebo Administration
25 STA-5326 Meslylate to Treat Gut Inflammation Associated With Common Variable Immunodeficiency Completed NCT00263237 Phase 1 STA-5326
26 B-Lymphocyte Stimulator (BLyS) To Treat Selective IgA Deficiency Completed NCT00024934 Phase 1 B-Lymphocyte Stimulator (BLyS)
27 Lymphocyte Immunophenotyping in Common Variable Immunodeficiency Unknown status NCT01196702
28 Improving the Diagnosis of Common Variable Immune Deficiency Unknown status NCT02680652
29 Investigation of Immune Disorders and Deficiencies Unknown status NCT01981785
30 Immune System and Gut Abnormalities in Patients With Common Variable Immunodeficiency With and Without Gastrointestinal Symptoms Completed NCT00015431
31 Randomized Study of Polyethylene-Glycol-Conjugated Interleukin 2 in Patients With Common Variable Immunodeficiency Completed NCT00004695 Not Applicable PEG-interleukin-2
32 Specific IgG Antibody in Patients With Primary Antibody Deficiencies Treated With Subcutaneous Immunoglobulin Completed NCT00661401 Not Applicable
33 Human IgGs and Endothelial Function in Vivo in Humans Completed NCT03534479 Not Applicable Polyclonal IgG
34 Construction of a Health-related Quality of Life (HR-QOL) Questionnaire for Patients With Primary Antibody Deficiency Disease Completed NCT02542228
35 The Impact of Exercise on Stress, Fatigue, and Quality of Life in Individuals With Primary Immunodeficiency Disease Completed NCT03211689 Not Applicable
36 GLILD Diagnosed in Children and Young Adults With Common Variable Immunodeficiency Recruiting NCT03648567
37 Improving the Diagnosis of Common Variable Immune Deficiency Recruiting NCT03335605
38 Immune Regulation in Patients With Common Variable Immunodeficiency and Related Syndromes Recruiting NCT00001244
39 Natural History of Bronchiectasis Recruiting NCT00943514
40 Severe PID With Lymphoproliferation and Neutropenia Recruiting NCT03427593 Not Applicable
41 Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders Recruiting NCT00895271
42 ENCAPSID Study : ENCApsulated Bacterial Infection and Primary, Secondary ImmunoDeficiency Recruiting NCT03721146
43 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Not Applicable Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA
44 Gamma Globulin Observations and Outcomes Database for Patients With Primary Immunodeficiency Disease (GOOD-SHEPARD-PI) Recruiting NCT01883921
45 Breadth of Donor Options for People With Inherited Diseases Requiring Allogeneic Hematopoietic Stem Cell Transplant in the Era of Alternative Donor Transplants Using Post-Transplantation Cyclophosphamide Enrolling by invitation NCT03188419
46 Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older Terminated NCT02960399 Not Applicable
47 Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States Terminated NCT00266513
48 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 Not Applicable 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 Immunodeficiency 30

Anatomical Context for Common Variable Immunodeficiency

MalaCards organs/tissues related to Common Variable Immunodeficiency:

42
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 1358)
# Title Authors Year
1
Toll-like receptors pathway in common variable immune deficiency (CVID) and X-linked agammaglobulinemia (XLA). ( 30698158 )
2019
2
Castleman Disease in a Patient with Common Variable Immunodeficiency. ( 30906603 )
2019
3
Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses. ( 29935219 )
2019
4
Perceived health of patients with common variable immunodeficiency - a cluster analysis. ( 30637715 )
2019
5
Rifaximin alters gut microbiota profile, but does not affect systemic inflammation - a randomized controlled trial in common variable immunodeficiency. ( 30655568 )
2019
6
Neuroborreliosis in a horse with common variable immunodeficiency. ( 30661472 )
2019
7
British Society for Immunology/United Kingdom Primary Immunodeficiency Network consensus statement on managing non-infectious complications of Common Variable Immunodeficiency Disorders. ( 30724343 )
2019
8
Common Variable Immunodeficiency: Epidemiology, Pathogenesis, Clinical manifestations, Diagnosis, Classification and Management. ( 30741636 )
2019
9
A High Prevalence of Gastrointestinal Manifestations in Common Variable Immunodeficiency. ( 30747770 )
2019
10
Measuring quality of life of primary antibody deficiency patients using a disease-specific health-related quality of life questionnaire for common variable immunodeficiency (CVID_QoL). ( 30806830 )
2019
11
End-stage renal disease secondary to anti-glomerular basement membrane disease in a child with common variable immunodeficiency. ( 30838168 )
2019
12
BAFF-driven B cell hyperplasia underlies lung disease in common variable immunodeficiency. ( 30843876 )
2019
13
Health-Related Quality of Life in Patients with CVID Under Different Schedules of Immunoglobulin Administration: Prospective Multicenter Study. ( 30644015 )
2019
14
Defects in memory B-cell and plasma cell subsets expressing different immunoglobulin-subclasses in CVID and Ig-subclass deficiencies. ( 30826363 )
2019
15
Common variable immunodeficiency presenting in a man with recurrent pneumonia caused by <i>Staphylococcus lugdunensis</i>. ( 29559491 )
2018
16
Evaluation of Clinical and Immunological Characteristics of Children with Common Variable Immunodeficiency. ( 29849668 )
2018
17
Keeping it in the family: the case for considering late-onset combined immunodeficiency a subset of common variable immunodeficiency disorders. ( 29806948 )
2018
18
Phenotypic characterization of patients with rheumatologic manifestations of common variable immunodeficiency. ( 29599028 )
2018
19
The circulating T helper subsets and regulatory T cells in patients with common variable immunodeficiency with no known monogenic disease. ( 29345621 )
2018
20
Common variable immunodeficiency associated with stiff-person syndrome. ( 29407421 )
2018
21
Liver transplantation in adults with liver disease due to common variable immunodeficiency leads to early recurrent disease and poor outcome. ( 29156507 )
2018
22
Chronic meningoencephalitis caused by Echo virusA 6 in aA patient with common variable immunodeficiency : Successful treatment with pleconaril. ( 29116409 )
2018
23
Psoriasiform dermatitis associated with common variable immunodeficiency 10 due to an Arg853* mutation in the NFKB2 gene. ( 29952021 )
2018
24
Chronic Diarrhea in Common Variable Immunodeficiency: a Case Series and Review of the Literature. ( 29138951 )
2018
25
Intravenous immunoglobulin (IVIG) efficiency in women with common variable immunodeficiency (CVID) decreases significantly during pregnancy. ( 29614902 )
2018
26
Reversible Suppression of Lymphoproliferation and Thrombocytopenia with Rapamycin in a Patient with Common Variable Immunodeficiency. ( 29350338 )
2018
27
Cutaneous granulomas in a patient with common variable immunodeficiency disease. ( 29389055 )
2018
28
The Profile of Toll-like Receptor 2 (TLR2), TLR4 and Their Cytosolic Downstream Signaling Pathway in Common Variable Immunodeficiency (CVID) Patients. ( 29757592 )
2018
29
Acute Gastrointestinal Bleeding Due to Cytomegalovirus Colitis in a Patient with Common Variable Immunodeficiency. ( 29850647 )
2018
30
Predictive markers for humoral influenza vaccine response in patients with common variable immunodeficiency. ( 29678747 )
2018
31
Allergic disease in patients with common variable immunodeficiency at a tertiary care referral center. ( 29273136 )
2018
32
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond. ( 29867916 )
2018
33
First case report of acquired generalized lipodystrophy associated with common variable immunodeficiency. ( 29846625 )
2018
34
Rheumatologic complications in a cohort of 227 patients with common variable immunodeficiency. ( 29574865 )
2018
35
Low Serum IgE Is a Sensitive and Specific Marker for Common Variable Immunodeficiency (CVID). ( 29453744 )
2018
36
Common Variable Immunodeficiency and Gastric Malignancies. ( 29393912 )
2018
37
Improvement of common variable immunodeficiency using embryonic stem cell therapy in a patient with lyme disease: a clinical case report. ( 29881587 )
2018
38
Autoimmune hepatitis as a complication of common variable immunodeficiency. ( 29368942 )
2018
39
HLA-A29 negative Birdshot-like chorioretinopathy associated with common variable immunodeficiency. ( 29780906 )
2018
40
Renal Evaluation in Common Variable Immunodeficiency. ( 29736405 )
2018
41
Familial inheritance and screening of first-degree relatives in common variable immunodeficiency and immunoglobulin A deficiency patients. ( 29978731 )
2018
42
Gastrointestinal and hepatobiliary manifestations in patients with common variable immunodeficiency: In relation to three clinical cases. ( 29691086 )
2018
43
Modulation of the Interleukin-21 Pathway with Interleukin-4 Distinguishes Common Variable Immunodeficiency Patients with More Non-infectious Clinical Complications. ( 29103189 )
2018
44
Loss-of-function nuclear factor I_B subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. ( 29477724 )
2018
45
Direct and Indirect Costs of Immunoglobulin Replacement Therapy in Patients with Common Variable Immunodeficiency (CVID) and X-Linked Agammaglobulinemia (XLA) in Italy. ( 30191508 )
2018
46
Bronchial Asthma and Bronchial Hyperresponsiveness and Their Characteristics in Patients with Common Variable Immunodeficiency. ( 30458444 )
2018
47
Early B cell developmental impairment with progressive B cell deficiency in NFKB2 mutated CVID disease without autoimmunity. ( 30500415 )
2018
48
Granulomatous-lymphocytic interstitial lung disease as the first manifestation of common variable immunodeficiency. ( 27243233 )
2018
49
The TH1 phenotype of follicular helper T cells indicates an IFN-γ-associated immune dysregulation in patients with CD21low common variable immunodeficiency. ( 28554560 )
2018
50
Granulomatous-Lymphocytic Interstitial Lung Disease in a Patient With Common Variable Immunodeficiency. ( 28583689 )
2018

Variations for Common Variable Immunodeficiency

ClinVar genetic disease variations for Common Variable Immunodeficiency:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNFSF12 NM_003809.2(TNFSF12): c.338-9A> G single nucleotide variant Benign rs114577645 GRCh38 Chromosome 17, 7550934: 7550934
2 TNFSF12 NM_003809.2(TNFSF12): c.338-9A> G single nucleotide variant Benign rs114577645 GRCh37 Chromosome 17, 7454251: 7454251
3 TNFSF12 NM_003809.2(TNFSF12): c.498+9delC deletion Likely benign rs1356188583 GRCh38 Chromosome 17, 7556911: 7556911
4 TNFSF12 NM_003809.2(TNFSF12): c.498+9delC deletion Likely benign rs1356188583 GRCh37 Chromosome 17, 7460228: 7460228
5 TNFSF12 NM_003809.2(TNFSF12): c.609C> T (p.Leu203=) single nucleotide variant Benign rs140608168 GRCh38 Chromosome 17, 7557209: 7557209
6 TNFSF12 NM_003809.2(TNFSF12): c.609C> T (p.Leu203=) single nucleotide variant Benign rs140608168 GRCh37 Chromosome 17, 7460526: 7460526
7 TNFSF12 NM_003809.2(TNFSF12): c.642G> T (p.Gly214=) single nucleotide variant Benign rs4968189 GRCh38 Chromosome 17, 7557242: 7557242
8 TNFSF12 NM_003809.2(TNFSF12): c.642G> T (p.Gly214=) single nucleotide variant Benign rs4968189 GRCh37 Chromosome 17, 7460559: 7460559
9 TNFSF12 NM_003809.2(TNFSF12): c.43G> A (p.Glu15Lys) single nucleotide variant Uncertain significance rs768061768 GRCh37 Chromosome 17, 7452513: 7452513
10 TNFSF12 NM_003809.2(TNFSF12): c.43G> A (p.Glu15Lys) single nucleotide variant Uncertain significance rs768061768 GRCh38 Chromosome 17, 7549196: 7549196
11 TNFSF12 NM_003809.2(TNFSF12): c.42G> A (p.Gly14=) single nucleotide variant Likely benign rs1170763703 GRCh38 Chromosome 17, 7549195: 7549195
12 TNFSF12 NM_003809.2(TNFSF12): c.42G> A (p.Gly14=) single nucleotide variant Likely benign rs1170763703 GRCh37 Chromosome 17, 7452512: 7452512
13 TNFSF12 NM_003809.2(TNFSF12): c.597G> A (p.Ala199=) single nucleotide variant Benign rs143039184 GRCh38 Chromosome 17, 7557197: 7557197
14 TNFSF12 NM_003809.2(TNFSF12): c.597G> A (p.Ala199=) single nucleotide variant Benign rs143039184 GRCh37 Chromosome 17, 7460514: 7460514
15 TNFSF12 NM_003809.2(TNFSF12): c.450C> T (p.Ile150=) single nucleotide variant Likely benign rs147597489 GRCh37 Chromosome 17, 7460171: 7460171
16 TNFSF12 NM_003809.2(TNFSF12): c.450C> T (p.Ile150=) single nucleotide variant Likely benign rs147597489 GRCh38 Chromosome 17, 7556854: 7556854
17 TNFSF12 NM_003809.2(TNFSF12): c.177G> C (p.Glu59Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 7452808: 7452808
18 TNFSF12 NM_003809.2(TNFSF12): c.177G> C (p.Glu59Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 7549491: 7549491
19 TNFSF12 NM_003809.2(TNFSF12): c.679C> T (p.Arg227Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 7557279: 7557279
20 TNFSF12 NM_003809.2(TNFSF12): c.679C> T (p.Arg227Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 7460596: 7460596
21 TNFSF12 NM_003809.2(TNFSF12): c.205_207dup (p.Ser69_Glu70insSer) duplication Uncertain significance GRCh38 Chromosome 17, 7549519: 7549521
22 TNFSF12 NM_003809.2(TNFSF12): c.205_207dup (p.Ser69_Glu70insSer) duplication Uncertain significance GRCh37 Chromosome 17, 7452836: 7452838

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:

38
# Name Kegg Source Accession
1 Primary immunodeficiency hsa05340

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

(show all 50)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.01 BTK CD19 CD27 CD40LG CD81 ICOS
2
Show member pathways
13.86 BTK CD27 CD40LG IL2 IL21 NFKB1
3
Show member pathways
13.69 BTK CD27 CD40LG IL2 IL21 NFKB1
4
Show member pathways
13.42 BTK CD19 CD40LG CD81 ICOS NFKB1
5
Show member pathways
13.37 CD27 CD40LG IL2 NFKB1 NFKB2 PRKCD
6
Show member pathways
13.36 BTK CD27 CD40LG IL2 IL21 NFKB1
7
Show member pathways
13.21 BTK CD27 CD40LG IL2 IL21 NFKB1
8
Show member pathways
13.18 BTK CD19 CD81 CR2 IL2 NFKB1
9
Show member pathways
12.92 BTK CD27 CD40LG NFKB1 PRKCD TNFRSF13B
10
Show member pathways
12.84 CD40LG ICOS IL2 IL21 NFKB1 NFKB2
11
Show member pathways
12.74 CD40LG IL2 NFKB1 NFKB2 PRKCD TNFRSF13C
12
Show member pathways
12.66 CD27 CD40LG CR2 NFKB1 PRKCD
13
Show member pathways
12.65 BTK CD40LG ICOS IL2 NFKB1 NFKB2
14
Show member pathways
12.61 BTK CD19 CD81 CR2 NFKB1 NFKB2
15
Show member pathways
12.49 BTK CD27 CD40LG NFKB1 PRKCD TNFRSF13B
16
Show member pathways
12.48 CR2 NFKB1 NFKB2 TNFRSF13B TNFRSF13C TNFSF13
17
Show member pathways
12.43 CD40LG ICOS IL2 NFKB1 PRKCD
18
Show member pathways
12.43 BTK CD19 CD81 CR2 NFKB1 PRKCD
19
Show member pathways
12.41 IL2 NFKB1 NFKB2 PRKCD
20
Show member pathways
12.4 CD40LG ICOS IL2 NFKB1 PRKCD
21 12.33 IL2 NFKB1 NFKB2 TNFRSF13C
22
Show member pathways
12.3 BTK NFKB1 NFKB2 PRKCD
23
Show member pathways
12.3 BTK CD19 NFKB1 PRKCD
24
Show member pathways
12.24 BTK IL2 NFKB1 NFKB2 PRKCD
25 12.17 BTK CD19 CD40LG ICOS IL2 NFKB1
26
Show member pathways
12.06 BTK IL2 PRKCD TNFRSF13C TNFSF13B
27 12.06 CD19 CD40LG CD81 SH2D1A
28
Show member pathways
11.98 IL2 NFKB1 NFKB2
29 11.96 IL2 TNFSF13 TNFSF13B
30 11.95 BTK CD40LG NFKB1 NFKB2 TNFRSF13C TNFSF13B
31 11.94 CD19 IL2 MS4A1
32
Show member pathways
11.93 IL2 NFKB1 NFKB2
33 11.86 CD19 CR2 MS4A1
34 11.84 IL2 NFKB1 PRKCD
35
Show member pathways
11.83 IL21 NFKB1 NFKB2
36
Show member pathways
11.77 IL2 NFKB1 NFKB2
37 11.72 CD19 IL2 MS4A1
38 11.71 BTK NFKB1 PRKCD
39
Show member pathways
11.69 CD40LG IL2 NFKB1 NFKB2
40 11.59 CD27 CD40LG ICOS
41
Show member pathways
11.56 CD40LG NFKB1 NFKB2 TNFRSF13B TNFSF12 TNFSF13
42 11.49 BTK NFKB1 NFKB2
43 11.46 IL2 NFKB1 NFKB2
44 11.37 BTK CD19 CD40LG ICOS TNFRSF13B TNFRSF13C
45 11.34 CD27 TNFRSF13B TNFSF13 TNFSF13B
46 11.25 BTK CD40LG IL2 IL21 TNFSF12 TNFSF13
47
Show member pathways
11.18 IL2 NFKB1 NFKB2
48 11.05 BTK CD40LG IL2 IL21 NFKB1 TNFSF12
49 10.95 CD19 CD27 CD40LG CR2 ICOS IL21
50 10.5 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 integral component of plasma membrane GO:0005887 9.86 CD19 CD27 CD40LG CD81 ICOS MS4A1
2 extracellular region GO:0005576 9.85 CD27 CD40LG ICOS IL2 IL21 NFKB1
3 plasma membrane GO:0005886 9.8 BTK CD19 CD27 CD40LG CD81 CR2
4 external side of plasma membrane GO:0009897 9.1 CD19 CD27 CD40LG ICOS MS4A1 TNFRSF13C
5 membrane GO:0016020 10.24 BTK CD19 CD27 CD40LG CD81 CR2
6 integral component of membrane GO:0016021 10.13 CD19 CD27 CD40LG CD81 CR2 ICOS

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.95 CD40LG IL2 IL21 PRKCD TNFSF12 TNFSF13
2 adaptive immune response GO:0002250 9.89 BTK IL2 SH2D1A TNFRSF13B TNFRSF13C
3 immune response GO:0006955 9.86 CD40LG CR2 ICOS IL2 IL21 TNFSF12
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.85 BTK CD40LG NFKB1 NFKB2
5 regulation of complement activation GO:0030449 9.81 CD19 CD81 CR2
6 negative regulation of inflammatory response GO:0050728 9.8 IL2 NFKB1 PRKCD
7 regulation of immune response GO:0050776 9.8 CD19 CD40LG CD81 SH2D1A TNFRSF13C TNFSF13B
8 cell surface receptor signaling pathway GO:0007166 9.79 CD27 CD81 TNFRSF13B
9 T cell costimulation GO:0031295 9.73 CD40LG ICOS TNFRSF13C TNFSF13B
10 B cell proliferation GO:0042100 9.67 CD40LG CR2 MS4A1 PRKCD
11 B cell homeostasis GO:0001782 9.65 TNFRSF13B TNFRSF13C TNFSF13B
12 positive regulation of natural killer cell mediated cytotoxicity GO:0045954 9.64 IL21 SH2D1A
13 positive regulation of T cell differentiation GO:0045582 9.64 CD27 IL2
14 negative regulation of B cell proliferation GO:0030889 9.63 BTK TNFRSF13B
15 negative regulation of cytokine production GO:0001818 9.61 BTK NFKB1
16 positive regulation of interferon-gamma biosynthetic process GO:0045078 9.6 IL21 TNFRSF13C
17 positive regulation of interleukin-17 production GO:0032740 9.59 IL2 IL21
18 cellular response to angiotensin GO:1904385 9.58 NFKB1 PRKCD
19 immunoglobulin mediated immune response GO:0016064 9.58 CD27 PRKCD
20 positive regulation of B cell differentiation GO:0045579 9.57 BTK CD27
21 positive regulation of tissue remodeling GO:0034105 9.56 IL2 IL21
22 positive regulation of T cell proliferation GO:0042102 9.55 CD40LG IL2 IL21 TNFRSF13C TNFSF13B
23 immunoglobulin secretion GO:0048305 9.54 CD40LG TNFSF13B
24 B cell costimulation GO:0031296 9.52 TNFRSF13C TNFSF13B
25 positive regulation of germinal center formation GO:0002636 9.51 TNFRSF13C TNFSF13B
26 positive regulation of B cell proliferation GO:0030890 9.35 CD81 IL2 IL21 TNFRSF13C TNFSF13B
27 tumor necrosis factor-mediated signaling pathway GO:0033209 9.17 CD27 CD40LG TNFRSF13B TNFRSF13C TNFSF12 TNFSF13
28 positive regulation of cell proliferation GO:0008284 10.02 CD81 IL2 IL21 TNFSF13 TNFSF13B
29 immune system process GO:0002376 10 BTK CR2 IL2 SH2D1A TNFRSF13B TNFRSF13C

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

# Name GO ID Score Top Affiliating Genes
1 MHC class II protein complex binding GO:0023026 9.26 CD81 MS4A1
2 tumor necrosis factor receptor binding GO:0005164 9.26 CD40LG TNFSF12 TNFSF13 TNFSF13B
3 interleukin-2 receptor binding GO:0005134 9.16 IL2 IL21
4 cytokine activity GO:0005125 9.1 CD40LG IL2 IL21 TNFSF12 TNFSF13 TNFSF13B
5 protein binding GO:0005515 10.22 BTK CD19 CD27 CD40LG CD81 CR2

Sources for Common Variable Immunodeficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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