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MCID: CMM004
MIFTS: 70

Common Variable Immunodeficiency

Categories: Rare diseases, Immune diseases, Blood diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Common Variable Immunodeficiency

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MalaCards integrated aliases for Common Variable Immunodeficiency:

Name: Common Variable Immunodeficiency 38 12 76 53 25 59 37 29 55 6 44 15 73
Cvid 12 53 25 59
Idiopathic Immunoglobulin Deficiency 53 59
Common Variable Immune Deficiency 53 25
Acquired Hypogammaglobulinemia 12 73
Primary Hypogammaglobulinemia 53 59
Primary Antibody Deficiency 53 59
Common Variable Hypogamma-Globulinemia 53
Immunoglobulin Deficiency, Late-Onset 53
Common Variable Hypogammaglobulinemia 25
Common Variable Agammaglobulinemia 12
Immunodeficiency, Common Variable 25
Hypogamma-Globulinemia, Acquired 53
Sporadic Hypogammaglobulinemia 12
Acquired Agammaglobulinemia 12

Characteristics:

Orphanet epidemiological data:

59
common variable immunodeficiency
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/100000; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Immune diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare immunological diseases


Sources

Summaries for Common Variable Immunodeficiency

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

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 lung, b cells and t cells, and related phenotypes are brachycephaly and chronic otitis media

NIH Rare Diseases : 53 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.

Disease Ontology : 12 A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM).

Wikipedia : 76 Common variable immunodeficiency (CVID) is an immune disorder characterized by recurrent infections and... more...

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Related Diseases for Common Variable Immunodeficiency

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

(show top 50) (show all 322)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency, common variable, 1 34.8 ICOS NFKB2
2 immunodeficiency, common variable, 2 33.7 CD19 CR2 ICOS TNFRSF13B TNFRSF13C
3 immunoglobulin g deficiency 33.3 CD40LG CD79A
4 agammaglobulinemia 32.9 BTK CD19 CD40LG CD79A SH2D1A
5 immunoglobulin alpha deficiency 32.1 CD40LG CD79A TNFRSF13B
6 combined immunodeficiency, x-linked 31.3 CD19 CD40LG CD79A IL2
7 selective igg deficiency disease 31.2 CD40LG CD79A
8 immunoglobulin a deficiency 1 31.2 BTK CD40LG CD79A
9 immunodeficiency with hyper-igm, type 1 31.2 BTK CD40LG CD79A
10 systemic lupus erythematosus 31.1 CD40LG CD79A CR2 IL2 TNFRSF13C TNFSF13B
11 b-cell lymphomas 30.9 BTK MS4A1 NFKB2 TNFRSF13C TNFSF13B
12 autoimmune disease 30.8 CD40LG CD79A IL2 IL21 TNFRSF13B TNFRSF13C
13 vasculitis 30.8 CD40LG CD79A TNFSF13B
14 lymphoproliferative syndrome 30.6 CD27 IL2 PRKCD SH2D1A
15 burkitt lymphoma 30.6 CD40LG CR2 MS4A1 SH2D1A TNFSF13B
16 autoimmune lymphoproliferative syndrome 30.3 IL2 LRBA PRKCD
17 lymphoma, non-hodgkin, familial 29.8 CD19 CD27 CD40LG CD79A CR2 IL2
18 immunodeficiency, common variable, 10 12.2
19 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency 12.2
20 immunodeficiency, common variable, 3 11.3
21 immunodeficiency, common variable, 4 11.3
22 immunodeficiency, common variable, 5 11.3
23 immunodeficiency, common variable, 6 11.3
24 immunodeficiency, common variable, 7 11.3
25 immunodeficiency, common variable, 11 11.3
26 lrba deficiency 11.3
27 primary agammaglobulinemia 11.3 TNFRSF13B TNFRSF13C
28 cryptococcal meningitis 11.2 TNFRSF13B TNFRSF13C TNFSF13B
29 immunodeficiency-centromeric instability-facial anomalies syndrome 1 11.2
30 familial cold autoinflammatory syndrome 3 11.2
31 autoimmune lymphoproliferative syndrome, type iii 11.2
32 c1q nephropathy 11.2 CD40LG CD79A
33 meningovascular neurosyphilis 11.2 CD40LG CD79A
34 alpha chain disease 11.2 CD40LG CD79A
35 brill-zinsser disease 11.2 CD40LG CD79A
36 exudative glomerulonephritis 11.2 CD40LG CD79A
37 cork-handlers' disease 11.1 CD40LG CD79A
38 transient hypogammaglobulinemia of infancy 11.1 CD19 CD40LG CD79A
39 salpingo-oophoritis 11.1 CD40LG CD79A
40 immunodeficiency with hyper-igm, type 4 11.1 CD40LG TNFSF13B
41 early yaws 11.1 CD40LG CD79A
42 vulvitis 11.1 CD40LG CD79A CR2
43 ventilation pneumonitis 11.1 CD40LG CD79A
44 chronic interstitial cystitis 11.1 CD40LG CD79A
45 axillary adenitis 11.1 CD40LG CD79A
46 gamma heavy chain disease 11.1 CD19 CD40LG CD79A
47 cryofibrinogenemia 11.1 CD40LG CD79A
48 monoclonal gammopathy of uncertain significance 11.1 CD19 CD40LG CD79A
49 plasma cell neoplasm 11.1 CD19 CD40LG CD79A
50 selective immunoglobulin deficiency disease 11.1 CD40LG CD79A SH2D1A

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



Diseases related to Common Variable Immunodeficiency
Sources

Symptoms & Phenotypes for Common Variable Immunodeficiency

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Human phenotypes related to Common Variable Immunodeficiency:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
2 chronic otitis media 59 32 hallmark (90%) Very frequent (99-80%) HP:0000389
3 purpura 59 32 frequent (33%) Frequent (79-30%) HP:0000979
4 failure to thrive in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001531
5 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
6 hemolytic anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001878
7 lymphopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001888
8 autoimmune thrombocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001973
9 anal atresia 59 32 frequent (33%) Frequent (79-30%) HP:0002023
10 pneumonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002090
11 restrictive ventilatory defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0002091
12 emphysema 59 32 occasional (7.5%) Occasional (29-5%) HP:0002097
13 bronchiectasis 59 32 frequent (33%) Frequent (79-30%) HP:0002110
14 vasculitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002633
15 lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002665
16 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
17 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
18 arthralgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002829
19 recurrent bronchitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002837
20 elevated hepatic transaminases 59 32 frequent (33%) Frequent (79-30%) HP:0002910
21 decreased antibody level in blood 59 32 hallmark (90%) Very frequent (99-80%) HP:0004313
22 posterior pharyngeal cleft 59 32 occasional (7.5%) Occasional (29-5%) HP:0006783
23 gastrointestinal stroma tumor 59 32 occasional (7.5%) Occasional (29-5%) HP:0100723
24 otitis media 59 Very frequent (99-80%)
25 abnormality of the liver 59 Frequent (79-30%)
26 recurrent respiratory infections 59 Very frequent (99-80%)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.4 IL2 NFKB1 NFKB2 TNFSF12 CD40LG
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 CD40LG IL2 NFKB1 NFKB2 TNFSF12 BTK

MGI Mouse Phenotypes related to Common Variable Immunodeficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.32 CD19 IL21 LRBA CD27 MS4A1 CD40LG
2 immune system MP:0005387 10.16 CD19 IL21 LRBA CD27 MS4A1 CD40LG
3 homeostasis/metabolism MP:0005376 10.13 CD19 IL21 CD40LG NFKB1 CD79A NFKB2
4 liver/biliary system MP:0005370 9.5 IL2 CD19 NFKB1 CD79A NFKB2 PRKCD
5 renal/urinary system MP:0005367 9.17 CD19 CD40LG CD79A NFKB2 PRKCD CR2
Sources

Drugs & Therapeutics for Common Variable Immunodeficiency

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

(show top 50) (show all 85)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rifaximin Approved, Investigational Phase 4 80621-81-4 6436173
2 Anti-Infective Agents Phase 4,Phase 2,Not Applicable
3 Antibodies Phase 4,Phase 3,Not Applicable
4 Immunoglobulins Phase 4,Phase 3,Not Applicable
5 Anti-Bacterial Agents Phase 4
6 Gastrointestinal Agents Phase 4,Not Applicable
7 Nucleic Acid Synthesis Inhibitors Phase 4,Not Applicable
8 rifamycin SV Phase 4
9 Rifamycins Phase 4
10 Immunoglobulin G Phase 4,Phase 3
11 gamma-Globulins Phase 4,Phase 3,Not Applicable
12 Immunoglobulins, Intravenous Phase 4,Phase 3,Not Applicable
13 Rho(D) Immune Globulin Phase 4,Phase 3,Not Applicable
14 Pharmaceutical Solutions Phase 3,Phase 2
15
Peginterferon alfa-2a Approved, Investigational Phase 2 198153-51-4 5360545
16
Ustekinumab Approved, Investigational Phase 1, Phase 2 815610-63-0
17
Busulfan Approved, Investigational Phase 2,Not Applicable 55-98-1 2478
18
Cyclophosphamide Approved, Investigational Phase 2,Not Applicable 50-18-0, 6055-19-2 2907
19
Everolimus Approved Phase 2 159351-69-6 6442177
20
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
21
Mycophenolic acid Approved Phase 2 24280-93-1 446541
22
Pentostatin Approved, Investigational Phase 2 53910-25-1 40926 439693
23
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
24
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
25
Fludarabine Approved Phase 2,Not Applicable 21679-14-1, 75607-67-9 30751
26
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
27
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
28 Antiviral Agents Phase 2,Not Applicable
29 Interferon-alpha Phase 2
30 interferons Phase 2
31 Interleukin-12 Phase 1, Phase 2
32 Dermatologic Agents Phase 1, Phase 2,Not Applicable
33 Alkylating Agents Phase 2,Not Applicable
34 Antimetabolites Phase 2,Not Applicable
35 Antimetabolites, Antineoplastic Phase 2,Not Applicable
36 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
37 Immunosuppressive Agents Phase 2,Not Applicable
38 Antirheumatic Agents Phase 2,Not Applicable
39 Heptavalent Pneumococcal Conjugate Vaccine Phase 2
40 Vaccines Phase 2,Not Applicable
41
Xylometazoline Approved, Investigational Phase 1 526-36-3 5709
42 Immunoglobulin A Phase 1
43
Benzocaine Approved, Investigational Not Applicable 1994-09-7, 94-09-7 2337
44
Mesna Approved, Investigational Not Applicable 3375-50-6 598
45
Vidarabine Approved, Investigational Not Applicable 24356-66-9 32326 21704
46
Etoposide Approved Not Applicable 33419-42-0 36462
47
Methotrexate Approved Not Applicable 1959-05-2, 59-05-2 126941
48
Methylprednisolone Approved, Vet_approved Not Applicable 83-43-2 6741
49
Miconazole Approved, Investigational, Vet_approved Not Applicable 22916-47-8 4189
50
Prednisolone Approved, Vet_approved Not Applicable 50-24-8 5755

Interventional clinical trials:

(show all 45)
# 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 With CVID 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 Study of Safety, Tolerability, and Efficacy of Ustekinumab for Symptomatic Gastrointestinal Inflammation Associated With Common Variable Immunodeficiency Recruiting NCT02199496 Phase 1, Phase 2
18 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
19 Busulfan, Fludarabine, and Thiotepa Conditioning Regimen for Non Malignant Disease 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 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Enrolling by invitation NCT01852370 Phase 1, Phase 2
22 "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
23 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
24 STA-5326 Meslylate to Treat Gut Inflammation Associated With Common Variable Immunodeficiency Completed NCT00263237 Phase 1 STA-5326
25 B-Lymphocyte Stimulator (BLyS) To Treat Selective IgA Deficiency Completed NCT00024934 Phase 1 B-Lymphocyte Stimulator (BLyS)
26 Lymphocyte Immunophenotyping in Common Variable Immunodeficiency Unknown status NCT01196702
27 Improving the Diagnosis of Common Variable Immune Deficiency Unknown status NCT02680652
28 Immune System and Gut Abnormalities in Patients With Common Variable Immunodeficiency With and Without Gastrointestinal Symptoms Completed NCT00015431
29 Randomized Study of Polyethylene-Glycol-Conjugated Interleukin 2 in Patients With Common Variable Immunodeficiency Completed NCT00004695 Not Applicable PEG-interleukin-2
30 Specific IgG Antibody in Patients With Primary Antibody Deficiencies Treated With Subcutaneous Immunoglobulin Completed NCT00661401 Not Applicable
31 Human IgGs and Endothelial Function in Vivo in Humans Completed NCT03534479 Not Applicable Polyclonal IgG
32 Construction of a Health-related Quality of Life (HR-QOL) Questionnaire for Patients With Primary Antibody Deficiency Disease Completed NCT02542228
33 Improving the Diagnosis of Common Variable Immune Deficiency Recruiting NCT03335605
34 Immune Regulation in Patients With Common Variable Immunodeficiency and Related Syndromes Recruiting NCT00001244
35 Natural History of Bronchiectasis Recruiting NCT00943514
36 Severe PID With Lymphoproliferation and Neutropenia Recruiting NCT03427593 Not Applicable
37 Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders Recruiting NCT00895271
38 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
39 Gamma Globulin Observations and Outcomes Database for Patients With Primary Immunodeficiency Disease (GOOD-SHEPARD-PI) Recruiting NCT01883921
40 The Impact of Exercise on Stress, Fatigue, and Quality of Life in Individuals With Primary Immunodeficiency Disease Active, not recruiting NCT03211689 Not Applicable
41 Investigation of Immune Disorders and Deficiencies Active, not recruiting NCT01981785
42 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
43 Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older Terminated NCT02960399 Not Applicable
44 Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States Terminated NCT00266513
45 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

Sources

Genetic Tests for Common Variable Immunodeficiency

About this section

Genetic tests related to Common Variable Immunodeficiency:

# Genetic test Affiliating Genes
1 Common Variable Immunodeficiency 29
Sources

Anatomical Context for Common Variable Immunodeficiency

About this section

MalaCards organs/tissues related to Common Variable Immunodeficiency:

41
Lung, B Cells, T Cells, Spleen, Lymph Node, Bone, Liver
Sources

Publications for Common Variable Immunodeficiency

About this section

Articles related to Common Variable Immunodeficiency:

(show top 50) (show all 846)
# Title Authors Year
1
Common variable immunodeficiency presenting in a man with recurrent pneumonia caused by <i>Staphylococcus lugdunensis</i>. ( 29559491 )
2018
2
Evaluation of Clinical and Immunological Characteristics of Children with Common Variable Immunodeficiency. ( 29849668 )
2018
3
Keeping it in the family: the case for considering late-onset combined immunodeficiency a subset of common variable immunodeficiency disorders. ( 29806948 )
2018
4
Phenotypic characterization of patients with rheumatologic manifestations of common variable immunodeficiency. ( 29599028 )
2018
5
The circulating T helper subsets and regulatory T cells in patients with common variable immunodeficiency with no known monogenic disease. ( 29345621 )
2018
6
Common variable immunodeficiency associated with stiff-person syndrome. ( 29407421 )
2018
7
Liver transplantation in adults with liver disease due to common variable immunodeficiency leads to early recurrent disease and poor outcome. ( 29156507 )
2018
8
Chronic meningoencephalitis caused by Echo virusA 6 in aA patient with common variable immunodeficiency : Successful treatment with pleconaril. ( 29116409 )
2018
9
Psoriasiform dermatitis associated with common variable immunodeficiency 10 due to an Arg853* mutation in the NFKB2 gene. ( 29952021 )
2018
10
Chronic Diarrhea in Common Variable Immunodeficiency: a Case Series and Review of the Literature. ( 29138951 )
2018
11
Intravenous immunoglobulin (IVIG) efficiency in women with common variable immunodeficiency (CVID) decreases significantly during pregnancy. ( 29614902 )
2018
12
Reversible Suppression of Lymphoproliferation and Thrombocytopenia with Rapamycin in a Patient with Common Variable Immunodeficiency. ( 29350338 )
2018
13
Cutaneous granulomas in a patient with common variable immunodeficiency disease. ( 29389055 )
2018
14
The Profile of Toll-like Receptor 2 (TLR2), TLR4 and Their Cytosolic Downstream Signaling Pathway in Common Variable Immunodeficiency (CVID) Patients. ( 29757592 )
2018
15
Acute Gastrointestinal Bleeding Due to Cytomegalovirus Colitis in a Patient with Common Variable Immunodeficiency. ( 29850647 )
2018
16
Predictive markers for humoral influenza vaccine response in patients with common variable immunodeficiency. ( 29678747 )
2018
17
Allergic disease in patients with common variable immunodeficiency at a tertiary care referral center. ( 29273136 )
2018
18
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond. ( 29867916 )
2018
19
First case report of acquired generalized lipodystrophy associated with common variable immunodeficiency. ( 29846625 )
2018
20
Rheumatologic complications in a cohort of 227 patients with common variable immunodeficiency. ( 29574865 )
2018
21
Low Serum IgE Is a Sensitive and Specific Marker for Common Variable Immunodeficiency (CVID). ( 29453744 )
2018
22
Common Variable Immunodeficiency and Gastric Malignancies. ( 29393912 )
2018
23
Improvement of common variable immunodeficiency using embryonic stem cell therapy in a patient with lyme disease: a clinical case report. ( 29881587 )
2018
24
Autoimmune hepatitis as a complication of common variable immunodeficiency. ( 29368942 )
2018
25
HLA-A29 negative Birdshot-like chorioretinopathy associated with common variable immunodeficiency. ( 29780906 )
2018
26
Renal Evaluation in Common Variable Immunodeficiency. ( 29736405 )
2018
27
Familial inheritance and screening of first-degree relatives in common variable immunodeficiency and immunoglobulin A deficiency patients. ( 29978731 )
2018
28
Gastrointestinal and hepatobiliary manifestations in patients with common variable immunodeficiency: In relation to three clinical cases. ( 29691086 )
2018
29
Modulation of the Interleukin-21 Pathway with Interleukin-4 Distinguishes Common Variable Immunodeficiency Patients with More Non-infectious Clinical Complications. ( 29103189 )
2018
30
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
31
A Review on Defects of Dendritic Cells in Common Variable Immunodeficiency. ( 28641569 )
2017
32
Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome. ( 28842786 )
2017
33
Disseminated histoplasmosis in a patient with common variable immunodeficiency: A coincidence or the result of T cell defects? ( 29085780 )
2017
34
British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders. ( 28351785 )
2017
35
Limited role of interferon-kappa (IFNK) truncating mutations in common variable immunodeficiency. ( 28324805 )
2017
36
Vaccine Associated Paralytic Poliomyelitis Unmasking Common Variable Immunodeficiency. ( 28361789 )
2017
37
Reduced numbers of circulating group 2 innate lymphoid cells in patients with common variable immunodeficiency. ( 28718914 )
2017
38
The role of genomics in common variable immunodeficiency disorders. ( 28236292 )
2017
39
Autoimmunity and its association with regulatory T cells and B cell subsets in patients with common variable immunodeficiency. ( 28735808 )
2017
40
Diffuse Nodular Lymphoid Hyperplasia of the Intestine Caused by Common Variable Immunodeficiency and Refractory Giardiasis. ( 28154271 )
2017
41
Intra cranial granulomatous disease in common variable immunodeficiency: Case series and review of the literature. ( 29277461 )
2017
42
Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy. ( 28808844 )
2017
43
Increased malignancy incidence in IgE deficient patients not due to concomitant Common Variable Immunodeficiency. ( 28778662 )
2017
44
A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID). ( 29180260 )
2017
45
Facilitated Subcutaneous Immunoglobulin (fSCIg) in Autoimmune Cytopenias Associated with Common Variable Immunodeficiency. ( 28786256 )
2017
46
Successful treatment of Common Variable Immunodeficiency-associated inflammatory bowel disease with Ustekinumab. ( 28333242 )
2017
47
Secondary Amenorrhea in a Patient with Common Variable Immunodeficiency. ( 28485330 )
2017
48
Defective IL-4 signaling in T cells defines severe common variable immunodeficiency. ( 28476239 )
2017
49
Psoriasis: An Unusual Autoimmune Manifestation in a Boy with Common Variable Immunodeficiency. ( 28761856 )
2017
50
TLR9 stimulation of B-cells induces transcription of p53 and prevents spontaneous and irradiation-induced cell death independent of DNA damage responses. Implications for Common variable immunodeficiency. ( 28973009 )
2017
Sources

Variations for Common Variable Immunodeficiency

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ClinVar genetic disease variations for Common Variable Immunodeficiency:

6
(show all 16)
# 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 GRCh37 Chromosome 17, 7460228: 7460228
4 TNFSF12 NM_003809.2(TNFSF12): c.498+9delC deletion Likely benign GRCh38 Chromosome 17, 7556911: 7556911
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 GRCh37 Chromosome 17, 7460559: 7460559
8 TNFSF12 NM_003809.2(TNFSF12): c.642G> T (p.Gly214=) single nucleotide variant Benign rs4968189 GRCh38 Chromosome 17, 7557242: 7557242
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 GRCh37 Chromosome 17, 7452512: 7452512
12 TNFSF12 NM_003809.2(TNFSF12): c.42G> A (p.Gly14=) single nucleotide variant Likely benign GRCh38 Chromosome 17, 7549195: 7549195
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
Sources

Expression for Common Variable Immunodeficiency

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

Pathways for Common Variable Immunodeficiency

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Pathways related to Common Variable Immunodeficiency according to KEGG:

37
# Name Kegg Source Accession
1 Primary immunodeficiency hsa05340

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

(show all 48)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 13.93 BTK CD19 CD27 CD40LG CD79A CD81
2
ERK Signaling 64
Show member pathways
 13.83 BTK CD27 CD40LG IL2 IL21 NFKB1
3
PEDF Induced Signaling 64
Show member pathways
 13.66 BTK CD27 CD40LG IL2 IL21 NFKB1
4
Class I MHC mediated antigen processing and presentation 66
Show member pathways
 13.44 BTK CD19 CD40LG CD79A CD81 ICOS
5
Akt Signaling 64
Show member pathways
 13.38 BTK CD27 CD40LG IL2 IL21 NFKB1
6
Cytokine Signaling in Immune system 66
Show member pathways
 13.35 CD27 CD40LG IL2 NFKB1 NFKB2 PRKCD
7
PAK Pathway 64
Show member pathways
 13.21 BTK CD27 CD40LG IL2 IL21 NFKB1
8
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 65
Show member pathways
 12.87 IL2 IL21 NFKB1 NFKB2 PRKCD
9
Allograft rejection 1 37
Show member pathways
 12.87 CD40LG ICOS IL2 IL21 NFKB1 NFKB2
10
IL-2 Pathway 64
Show member pathways
 12.79 BTK CD19 CD79A CD81 CR2 IL2
11
Development Angiotensin activation of ERK 22
Show member pathways
 12.78 BTK CD27 CD40LG CD79A NFKB1 PRKCD
12
Downstream signaling events of B Cell Receptor (BCR) 66
Show member pathways
 12.71 BTK CD19 CD79A ICOS NFKB1
13
NF-KappaB Family Pathway 64
Show member pathways
 12.71 CD40LG IL2 NFKB1 NFKB2 PRKCD TNFRSF13C
14
4-1BB Pathway 64
Show member pathways
 12.64 CD27 CD40LG CR2 NFKB1 PRKCD
15
Immune response Fc epsilon RI pathway 22
Show member pathways
 12.6 BTK CD19 CD79A CD81 CR2 NFKB1
16
Immune response NFAT in immune response 22
Show member pathways
 12.57 BTK CD79A ICOS NFKB1 NFKB2
17
TRAF Pathway 64
Show member pathways
 12.48 CD40LG NFKB1 TNFRSF13B TNFSF13B
18
RANK Signaling in Osteoclasts 64
Show member pathways
 12.43 CR2 NFKB1 NFKB2 TNFRSF13B TNFRSF13C TNFSF13B
19
Apoptosis Pathway 72
Show member pathways
 12.41 IL2 NFKB1 NFKB2 PRKCD
20
HTLV-I infection 37
12.4 IL2 NFKB1 NFKB2 TNFRSF13C
21
T cell receptor signaling pathway 37
Show member pathways
 12.4 CD40LG ICOS IL2 NFKB1 PRKCD
22
ICos-ICosL Pathway in T-Helper Cell 64
Show member pathways
 12.37 CD40LG ICOS IL2 NFKB1 PRKCD
23
B cell receptor signaling pathway (KEGG) 37
Show member pathways
 12.37 BTK CD19 CD79A CD81 CR2 NFKB1
24
B Cell Receptor Signaling Pathway (sino) 67
Show member pathways
 12.31 BTK CD19 NFKB1 PRKCD
25
Development A3 receptor signaling 22
Show member pathways
 12.3 BTK NFKB1 NFKB2 PRKCD
26
Epstein-Barr virus infection 37
12.27 CD19 CR2 NFKB1 NFKB2
27
C-type lectin receptor signaling pathway 37
Show member pathways
 12.22 BTK IL2 NFKB1 NFKB2 PRKCD
28
NF-kappaB Signaling 4
12.21 BTK CD19 CD40LG CD79A ICOS IL2
29
Immune response IFN gamma signaling pathway 22
Show member pathways
 12.06 BTK IL2 PRKCD TNFRSF13C TNFSF13B
30
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell 66
12.06 CD19 CD40LG CD81 SH2D1A
31
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.98 CD19 CD79A IL2 MS4A1
32
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers 66
Show member pathways
 11.9 BTK CD19 CD79A
33
Hematopoietic cell lineage 37
11.86 CD19 CR2 MS4A1
34
Corticotropin-releasing hormone signaling pathway 1
11.84 IL2 NFKB1 PRKCD
35
Cytokine production by Th17 cells in CF (Mouse model) 22
Show member pathways
 11.84 IL21 NFKB1 NFKB2
36
NF-kappa B signaling pathway 37
11.82 BTK CD40LG NFKB1 NFKB2 TNFRSF13C TNFSF13B
37
LT-BetaR Pathway 64
Show member pathways
 11.78 IL2 NFKB1 NFKB2
38
Dendritic Cells Developmental Lineage Pathway 65
11.73 CD19 IL2 MS4A1
39
NF-kB (NFkB) Pathway 67
11.71 BTK NFKB1 PRKCD
40
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.67 CD40LG IL2 NFKB1 NFKB2
41
T Cell Co-Signaling Pathway: Ligand-Receptor Interactions 65
11.6 CD27 CD40LG ICOS
42
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway 22
Show member pathways
 11.6 CD40LG NFKB1 NFKB2 TNFRSF13B TNFSF12 TNFSF13B
43
Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway 1
11.49 BTK NFKB1 NFKB2
44
Tacrolimus/Cyclosporine Pathway, Pharmacodynamics 61
11.45 IL2 NFKB1 NFKB2
45
Primary immunodeficiency 37
11.27 BTK CD19 CD40LG CD79A ICOS TNFRSF13B
46
TNFs bind their physiological receptors 66
11.26 CD27 TNFRSF13B TNFSF13B
47
B Cell Development Pathways 65
10.95 CD19 CD27 CD40LG CR2 ICOS IL21
48
Interleukin-1 processing 66
10.51 NFKB1 NFKB2
Sources

GO Terms for Common Variable Immunodeficiency

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.91 CD27 CD40LG ICOS IL2 IL21 NFKB1
2 plasma membrane GO:0005886 9.83 BTK CD19 CD27 CD40LG CD79A CD81
3 integral component of plasma membrane GO:0005887 9.81 CD19 CD27 CD40LG CD79A CD81 ICOS
4 external side of plasma membrane GO:0009897 9.17 CD19 CD27 CD40LG CD79A ICOS MS4A1
5 integral component of membrane GO:0016021 10.13 CD19 CD27 CD40LG CD79A CD81 CR2

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.97 CD40LG IL2 IL21 PRKCD TNFSF12 TNFSF13B
2 immune system process GO:0002376 9.97 BTK CD79A CR2 IL2 SH2D1A TNFRSF13B
3 cell surface receptor signaling pathway GO:0007166 9.92 CD19 CD27 CD79A CD81 TNFRSF13B
4 immune response GO:0006955 9.92 CD27 CD40LG CR2 ICOS IL2 IL21
5 adaptive immune response GO:0002250 9.91 BTK CD79A IL2 SH2D1A TNFRSF13B TNFRSF13C
6 regulation of immune response GO:0050776 9.88 CD19 CD40LG CD81 SH2D1A TNFRSF13C TNFSF13B
7 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.86 BTK CD40LG NFKB1 NFKB2
8 B cell receptor signaling pathway GO:0050853 9.81 BTK CD19 CD79A
9 B cell differentiation GO:0030183 9.77 CD40LG CD79A CR2
10 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.76 BTK NFKB1 NFKB2
11 T cell costimulation GO:0031295 9.76 CD40LG ICOS TNFRSF13C TNFSF13B
12 B cell activation GO:0042113 9.69 BTK CD79A MS4A1
13 B cell homeostasis GO:0001782 9.65 TNFRSF13B TNFRSF13C TNFSF13B
14 positive regulation of T cell proliferation GO:0042102 9.65 CD40LG IL2 IL21 TNFRSF13C TNFSF13B
15 positive regulation of B cell differentiation GO:0045579 9.63 BTK CD27
16 tumor necrosis factor-mediated signaling pathway GO:0033209 9.63 CD27 CD40LG TNFRSF13B TNFRSF13C TNFSF12 TNFSF13B
17 positive regulation of interleukin-17 production GO:0032740 9.62 IL2 IL21
18 immunoglobulin mediated immune response GO:0016064 9.62 CD27 PRKCD
19 cellular response to angiotensin GO:1904385 9.61 NFKB1 PRKCD
20 positive regulation of interferon-gamma biosynthetic process GO:0045078 9.61 IL21 TNFRSF13C
21 negative regulation of cytokine production GO:0001818 9.6 BTK NFKB1
22 positive regulation of tissue remodeling GO:0034105 9.58 IL2 IL21
23 immunoglobulin secretion GO:0048305 9.57 CD40LG TNFSF13B
24 positive regulation of germinal center formation GO:0002636 9.55 TNFRSF13C TNFSF13B
25 B cell costimulation GO:0031296 9.54 TNFRSF13C TNFSF13B
26 positive regulation of B cell proliferation GO:0030890 9.35 CD81 IL2 IL21 TNFRSF13C TNFSF13B
27 B cell proliferation GO:0042100 9.02 CD40LG CD79A CR2 MS4A1 PRKCD
28 innate immune response GO:0045087 10.03 BTK CR2 NFKB1 NFKB2 SH2D1A

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 9.32 CD81 MS4A1
2 interleukin-2 receptor binding GO:0005134 9.16 IL2 IL21
3 tumor necrosis factor receptor binding GO:0005164 9.13 CD40LG TNFSF12 TNFSF13B
4 cytokine activity GO:0005125 9.02 CD40LG IL2 IL21 TNFSF12 TNFSF13B
5 protein binding GO:0005515 10.21 BTK CD19 CD27 CD40LG CD79A CD81
Sources

Sources for Common Variable Immunodeficiency

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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