MCID: CMM004
MIFTS: 71

Common Variable Immunodeficiency

Categories: Rare diseases, Immune diseases, Blood diseases

Aliases & Classifications for Common Variable Immunodeficiency

MalaCards integrated aliases for Common Variable Immunodeficiency:

Name: Common Variable Immunodeficiency 37 12 72 49 24 55 36 28 51 41 14 69
Cvid 12 49 24 55
Idiopathic Immunoglobulin Deficiency 49 55
Common Variable Immune Deficiency 49 24
Acquired Hypogammaglobulinemia 12 69
Primary Hypogammaglobulinemia 49 55
Primary Antibody Deficiency 49 55
Common Variable Hypogamma-Globulinemia 49
Immunoglobulin Deficiency, Late-Onset 49
Common Variable Hypogammaglobulinemia 24
Common Variable Agammaglobulinemia 12
Immunodeficiency, Common Variable 24
Hypogamma-Globulinemia, Acquired 49
Sporadic Hypogammaglobulinemia 12
Acquired Agammaglobulinemia 12

Characteristics:

Orphanet epidemiological data:

55
common variable immunodeficiency
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/100000; Age of onset: All ages;

Classifications:

Orphanet: 55  
Rare immunological diseases


Summaries for Common Variable Immunodeficiency

NIH Rare Diseases : 49 Common variable immunodeficiency (CVID) is a group of disorders in which the immune system cannot make antibodies against agents that cause infection (such as bacteria). CVID is characterized by low levels of most or all of the immunoglobulin (Ig) classes. This causes affected people to get frequent infections, particularly in the sinuses, lungs, and digestive tract. Symptoms most commonly begin in early adulthood but have been found in children as young as age two. While in most cases the cause of CVID is unknown, it has been associated with changes (mutations) in at least 10 genes. About 10% of cases are due to mutations in the TNFRSF13B gene. Treatment for CVID includes Ig replacement therapy, which stops the cycle of recurrent infections. Last updated: 3/14/2016

MalaCards based summary : Common Variable Immunodeficiency, also known as cvid, is related to immunodeficiency, common variable, 1 and immunodeficiency, common variable, 2, and has symptoms including brachycephaly, chronic otitis media and purpura. 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 Antibodies have been mentioned in the context of this disorder. Affiliated tissues include lung, b cells and t cells, and related phenotypes are hematopoietic system and immune system

Genetics Home Reference : 24 Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinal tract, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas.

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

Wikipedia : 72 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 336)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency, common variable, 1 33.7 ICOS NFKB2
2 immunodeficiency, common variable, 2 32.5 CD19 CR2 ICOS TNFRSF13B TNFRSF13C
3 immunoglobulin g deficiency 32.2 CD40LG CD79A
4 agammaglobulinemia 32.2 BTK CD19 CD40LG CD79A CR2 SH2D1A
5 immunoglobulin alpha deficiency 31.5 CD40LG CD79A TNFRSF13B
6 immunodeficiency with hyper-igm, type 1 30.6 BTK CD40LG CD79A IL4
7 selective igg deficiency disease 30.6 CD40LG CD79A
8 rheumatoid arthritis 30.5 CD40LG CD79A IL2 IL4 TNFSF13B
9 bone inflammation disease 30.4 CD40LG CD79A IL2 IL4
10 autoimmune disease 30.4 CD40LG CD79A IL2 IL4 TNFRSF13B TNFRSF13C
11 keratoconjunctivitis 30.4 CD79A IL2 IL4
12 combined immunodeficiency, x-linked 30.4 CD19 CD40LG CD79A IL2 IL4
13 toxoplasmosis 30.4 CD40LG CD79A IL4
14 immunoglobulin a deficiency 1 30.4 BTK CD40LG CD79A IL4
15 burkitt lymphoma 30.1 CD40LG CR2 MS4A1 SH2D1A
16 vasculitis 30.1 CD40LG CD79A TNFSF13B
17 lymphoproliferative syndrome 30.1 CD27 IL2 PRKCD SH2D1A
18 lymphoma, non-hodgkin, familial 29.7 CD19 CD27 CD40LG CR2 IL2 MS4A1
19 systemic lupus erythematosus 29.6 CD19 CD40LG CD79A CR2 IL2 IL4
20 autoimmune lymphoproliferative syndrome 29.6 IL2 LRBA PRKCD
21 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency 12.2
22 immunodeficiency, common variable, 10 12.0
23 immunodeficiency, common variable, 8, with autoimmunity 11.6
24 immunodeficiency-centromeric instability-facial anomalies syndrome 1 11.2
25 immunodeficiency, common variable, 3 11.2
26 immunodeficiency, common variable, 4 11.2
27 immunodeficiency, common variable, 5 11.2
28 immunodeficiency, common variable, 6 11.2
29 familial cold autoinflammatory syndrome 3 11.2
30 immunodeficiency, common variable, 7 11.2
31 autoimmune lymphoproliferative syndrome, type iii 11.2
32 immunodeficiency, common variable, 11 11.2
33 primary agammaglobulinemia 10.8 TNFRSF13B TNFRSF13C
34 bronchiectasis with or without elevated sweat chloride 1 10.8
35 bronchiectasis with or without elevated sweat chloride 2 10.8
36 bronchiectasis with or without elevated sweat chloride 3 10.8
37 immunodeficiency, common variable, 12 10.8
38 immunodeficiency, common variable, 13 10.8
39 cryptococcal meningitis 10.8 TNFRSF13B TNFRSF13C TNFSF13B
40 c1q nephropathy 10.8 CD40LG CD79A
41 meningovascular neurosyphilis 10.7 CD40LG CD79A
42 alpha chain disease 10.7 CD40LG CD79A
43 brill-zinsser disease 10.7 CD40LG CD79A
44 exudative glomerulonephritis 10.7 CD40LG CD79A
45 brucellosis 10.7 CD40LG IL2 IL4
46 cork-handlers' disease 10.7 CD40LG CD79A
47 leukocyte disease 10.7 CD40LG IL2 IL4
48 dysgammaglobulinemia 10.7 CD40LG CD79A SH2D1A
49 salivary gland disease 10.7 CD40LG CD79A TNFSF13B
50 salpingo-oophoritis 10.7 CD40LG CD79A

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:

55 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachycephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000248
2 chronic otitis media 55 31 hallmark (90%) Very frequent (99-80%) HP:0000389
3 purpura 55 31 frequent (33%) Frequent (79-30%) HP:0000979
4 failure to thrive in infancy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001531
5 splenomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0001744
6 hemolytic anemia 55 31 frequent (33%) Frequent (79-30%) HP:0001878
7 lymphopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001888
8 autoimmune thrombocytopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001973
9 anal atresia 55 31 frequent (33%) Frequent (79-30%) HP:0002023
10 pneumonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002090
11 emphysema 55 31 occasional (7.5%) Occasional (29-5%) HP:0002097
12 bronchiectasis 55 31 frequent (33%) Frequent (79-30%) HP:0002110
13 vasculitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002633
14 lymphoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002665
15 lymphadenopathy 55 31 frequent (33%) Frequent (79-30%) HP:0002716
16 immunodeficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0002721
17 arthralgia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002829
18 recurrent bronchitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002837
19 elevated hepatic transaminases 55 31 frequent (33%) Frequent (79-30%) HP:0002910
20 decreased antibody level in blood 55 31 hallmark (90%) Very frequent (99-80%) HP:0004313
21 posterior pharyngeal cleft 55 31 occasional (7.5%) Occasional (29-5%) HP:0006783
22 gastrointestinal stroma tumor 55 31 occasional (7.5%) Occasional (29-5%) HP:0100723
23 otitis media 55 Very frequent (99-80%)
24 abnormality of the liver 55 Frequent (79-30%)
25 restrictive lung disease 55 Occasional (29-5%)
26 recurrent respiratory infections 55 Very frequent (99-80%)
27 restrictive ventilatory defect 31 occasional (7.5%) HP:0002091

MGI Mouse Phenotypes related to Common Variable Immunodeficiency:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.32 TNFRSF13B TNFRSF13C TNFSF12 TNFSF13B SH2D1A ICOS
2 immune system MP:0005387 10.16 TNFRSF13B TNFRSF13C TNFSF12 TNFSF13B SH2D1A ICOS
3 homeostasis/metabolism MP:0005376 10.13 TNFRSF13B TNFRSF13C SH2D1A ICOS BTK IL2
4 liver/biliary system MP:0005370 9.56 TNFRSF13B PRKCD IL2 CD19 IL4 NFKB1
5 renal/urinary system MP:0005367 9.23 TNFRSF13B PRKCD CD19 IL4 CD40LG CD79A

Drugs & Therapeutics for Common Variable Immunodeficiency

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

(show top 50) (show all 83)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rifaximin Approved, Investigational Phase 4 80621-81-4 6436173
2 Antibodies Phase 4,Phase 3
3 Immunoglobulins Phase 4,Phase 3
4 Anti-Bacterial Agents Phase 4
5 Anti-Infective Agents Phase 4,Phase 2
6 Gastrointestinal Agents Phase 4
7 Nucleic Acid Synthesis Inhibitors Phase 4
8 rifamycin SV Phase 4
9 Rifamycins Phase 4
10 gamma-Globulins Phase 4,Phase 3
11 Immunoglobulins, Intravenous Phase 4,Phase 3
12 Rho(D) Immune Globulin Phase 4,Phase 3
13 Pharmaceutical Solutions Phase 3,Phase 2
14
Ustekinumab Approved, Investigational Phase 1, Phase 2 815610-63-0
15
Busulfan Approved, Investigational Phase 2 55-98-1 2478
16
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
17
Everolimus Approved Phase 2 159351-69-6 6442177
18
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
19
Mycophenolic acid Approved Phase 2 24280-93-1 446541
20
Pentostatin Approved, Investigational Phase 2 53910-25-1 439693 40926
21
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
22
alemtuzumab Approved, Investigational Phase 2 216503-57-0
23
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
24
Melphalan Approved Phase 2 148-82-3 460612 4053
25 Thiotepa Approved, Investigational Phase 2 52-24-4 5453
26
Peginterferon alfa-2a Approved, Investigational Phase 2 198153-51-4 5360545
27 Interleukin-12 Phase 1, Phase 2
28 Dermatologic Agents Phase 1, Phase 2
29 Alkylating Agents Phase 2
30 Antimetabolites Phase 2
31 Antimetabolites, Antineoplastic Phase 2
32 Immunosuppressive Agents Phase 2
33 Antiviral Agents Phase 2
34 Vaccines Phase 2
35 Antirheumatic Agents Phase 2
36 Interferon-alpha Phase 2
37 interferons Phase 2
38 Heptavalent Pneumococcal Conjugate Vaccine Phase 2
39
Xylometazoline Approved, Investigational Phase 1 526-36-3 5709
40 Immunoglobulin A Phase 1
41
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
42
Mesna Approved, Investigational 3375-50-6 598
43
Vidarabine Approved, Investigational 24356-66-9 21704 32326
44
Etoposide Approved 33419-42-0 36462
45
Methotrexate Approved 1959-05-2, 59-05-2 126941
46
Methylprednisolone Approved, Vet_approved 83-43-2 6741
47
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
48
Prednisolone Approved, Vet_approved 50-24-8 5755
49
Prednisone Approved, Vet_approved 53-03-2 5865
50 tannic acid Approved, Nutraceutical

Interventional clinical trials:

(show all 43)

# 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 Multi-centre Open Study to Assess the Safety and Efficacy of Subgam® Completed NCT02247141 Phase 3
5 Safety and Efficacy of Intravenous Immunoglobulin IgPro10 in Patients With Primary Immunodeficiencies (PID) Completed NCT00322556 Phase 3 Immunoglobulins Intravenous (Human)
6 Efficacy and Safety of Intravenous Immunoglobulin IgPro10 in Patients With Primary Immunodeficiencies (PID) Completed NCT00168025 Phase 3 Immunoglobulins Intravenous (Human)
7 Efficacy and Safety of Intravenous Immunoglobulin IVIG-F10 in Patients With Primary Immunodeficiencies (PID) Completed NCT00168012 Phase 3 Immunoglobulins Intravenous (Human)
8 Study of Subcutaneous Immune Globulin in Patients Requiring IgG Replacement Therapy Completed NCT00542997 Phase 3
9 Pharmacokinetics (PK) and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
10 Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
11 Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases. Completed NCT00278954 Phase 3
12 Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients Completed NCT00220766 Phase 3 Immune Globulin Intravenous [Human], 10% Caprylate/Chromatography Purified;Dextrose, 5% in Water
13 A Clinical Study of Intravenous Immunoglobulin Completed NCT00468273 Phase 3 Immune Globulin Intravenous (Human) Omr-IgG-am IGIV
14 Study of Efficacy of CDZ173 in Patients With APDS/PASLI Recruiting NCT02435173 Phase 2, Phase 3 CDZ173
15 Study of Safety, Tolerability, and Efficacy of Ustekinumab for Symptomatic Gastrointestinal Inflammation Associated With Common Variable Immunodeficiency Recruiting NCT02199496 Phase 1, Phase 2
16 Pilot Trial of Allogeneic Blood or Marrow Transplanation for Primary Immunodeficiencies Recruiting NCT02579967 Phase 2 Immunosuppression Only Conditioning;Reduced Intensity Conditioning;Myeloablative Conditioning;GVHD Prophylaxis
17 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
18 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Enrolling by invitation NCT01852370 Phase 1, Phase 2
19 Clinical and Virological Efficacy of Pegylated Interferon Alpha in the Treatment of Rhinovirus Infection in Patients With Primary Hypogammaglobulinemia: Randomized Controlled Trial Not yet recruiting NCT02661477 Phase 2 pegylated interferon alfa 2
20 "Prime Boost" Vaccination Strategy Combining Conjugated Anti- Pneumococcal Vaccine (s0) and Polysaccharide Anti- Pneumococcal Vaccine (s4) Compared to Polysaccharide Anti- Pneumococcal Vaccine Alone (s4) In Patients With Common Variable Immunodeficiency Terminated NCT01489618 Phase 2
21 Clinical Trial to Assess the Efficacy of Rituximab and Azathioprine in the Treatment of Granulomatous and Lymphocytic Interstitial Lung Disease (GLILD) in Adult Patients With Common Variable Immunodeficiency (CVID) Withdrawn NCT02789397 Phase 2 Rituximab (RTX) and Azathioprine (AZA);Placebo Administration
22 STA-5326 Meslylate to Treat Gut Inflammation Associated With Common Variable Immunodeficiency Completed NCT00263237 Phase 1 STA-5326
23 B-Lymphocyte Stimulator (BLyS) To Treat Selective IgA Deficiency Completed NCT00024934 Phase 1 B-Lymphocyte Stimulator (BLyS)
24 Lymphocyte Immunophenotyping in Common Variable Immunodeficiency Unknown status NCT01196702
25 Immune System and Gut Abnormalities in Patients With Common Variable Immunodeficiency With and Without Gastrointestinal Symptoms Completed NCT00015431
26 Randomized Study of Polyethylene-Glycol-Conjugated Interleukin 2 in Patients With Common Variable Immunodeficiency Completed NCT00004695 PEG-interleukin-2
27 Specific IgG Antibody in Patients With Primary Antibody Deficiencies Treated With Subcutaneous Immunoglobulin Completed NCT00661401
28 Construction of a Health-related Quality of Life (HR-QOL) Questionnaire for Patients With Primary Antibody Deficiency Disease Completed NCT02542228
29 Improving the Diagnosis of Common Variable Immune Deficiency Recruiting NCT03335605
30 Immune Regulation in Patients With Common Variable Immunodeficiency and Related Syndromes Recruiting NCT00001244
31 Natural History of Bronchiectasis Recruiting NCT00943514
32 Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders Recruiting NCT00895271
33 Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older Recruiting NCT02960399
34 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA
35 Gamma Globulin Observations and Outcomes Database for Patients With Primary Immunodeficiency Disease (GOOD-SHEPARD-PI) Recruiting NCT01883921
36 The Impact of Exercise on Stress, Fatigue, and Quality of Life in Individuals With Primary Immunodeficiency Disease Active, not recruiting NCT03211689
37 Investigation of Immune Disorders and Deficiencies Active, not recruiting NCT01981785
38 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
39 Molecular and Clinical Studies of Primary Immunodeficiency Diseases Enrolling by invitation NCT00006319
40 Improving the Diagnosis of Common Variable Immune Deficiency Not yet recruiting NCT02680652
41 Severe PID With Lymphoproliferation and Neutropenia Not yet recruiting NCT03427593
42 Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States Terminated NCT00266513
43 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 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 28

Anatomical Context for Common Variable Immunodeficiency

MalaCards organs/tissues related to Common Variable Immunodeficiency:

38
Lung, B Cells, T Cells, Spleen, Lymph Node, Bone, Liver

Publications for Common Variable Immunodeficiency

Articles related to Common Variable Immunodeficiency:

(show top 50) (show all 813)
# Title Authors Year
1
Chronic Diarrhea in Common Variable Immunodeficiency: a Case Series and Review of the Literature. ( 29138951 )
2018
2
Autoimmune hepatitis as a complication of common variable immunodeficiency. ( 29368942 )
2018
3
Common variable immunodeficiency associated with stiff-person syndrome. ( 29407421 )
2018
4
Allergic disease in patients with common variable immunodeficiency at a tertiary care referral center. ( 29273136 )
2018
5
Chronic meningoencephalitis caused by Echo virusA 6 in aA patient with common variable immunodeficiency : Successful treatment with pleconaril. ( 29116409 )
2018
6
Modulation of the Interleukin-21 Pathway with Interleukin-4 Distinguishes Common Variable Immunodeficiency Patients with More Non-infectious Clinical Complications. ( 29103189 )
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
Common Variable Immunodeficiency and Gastric Malignancies. ( 29393912 )
2018
9
Cutaneous granulomas in a patient with common variable immunodeficiency disease. ( 29389055 )
2018
10
The circulating T helper subsets and regulatory T cells in patients with common variable immunodeficiency with no known monogenic disease. ( 29345621 )
2018
11
Reversible Suppression of Lymphoproliferation and Thrombocytopenia with Rapamycin in a Patient with Common Variable Immunodeficiency. ( 29350338 )
2018
12
NEIL1 is a candidate gene associated with common variable immunodeficiency in a patient with a chromosome 15q24 deletion. ( 28093361 )
2017
13
Common variable immunodeficiency-associated granulomatous and lymphocytic interstitial lung disease successfully treated with a combination regimen of rituximab and azathioprine. ( 28736065 )
2017
14
Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia. ( 28054583 )
2017
15
Intravenous Immunoglobulin Monotherapy for Granulomatous Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency. ( 28924106 )
2017
16
FDG PET-CT imaging of therapeutic response in granulomatous lymphocytic interstitial lung disease (GLILD) in common variable immunodeficiency (CVID). ( 27896807 )
2017
17
Autoimmunity and its association with regulatory T cells and B cell subsets in patients with common variable immunodeficiency. ( 28735808 )
2017
18
Common Variable Immunodeficiency Caused by FANC Mutations. ( 28493158 )
2017
19
Lack of Clinical Hypersensitivity to Penicillin Antibiotics in Common Variable Immunodeficiency. ( 27873106 )
2017
20
Epidemiology and pathophysiology of malignancy in common variable immunodeficiency? ( 28411962 )
2017
21
Management of common variable immunodeficiency by subcutaneous IgG self-administration during pregnancy - a case report. ( 28781847 )
2017
22
Terminally differentiated memory T cells are increased in patients with common variable immunodeficiency and selective IgA deficiency. ( 29204088 )
2017
23
Reduced numbers of circulating group 2 innate lymphoid cells in patients with common variable immunodeficiency. ( 28718914 )
2017
24
Diffuse Nodular Lymphoid Hyperplasia of the Intestine Caused by Common Variable Immunodeficiency and Refractory Giardiasis. ( 28154271 )
2017
25
A Review on Defects of Dendritic Cells in Common Variable Immunodeficiency. ( 28641569 )
2017
26
Identification and characterization of a nationwide Danish adult common variable immunodeficiency cohort. ( 28370285 )
2017
27
A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID). ( 29180260 )
2017
28
Common Variable Immunodeficiency and Liver Involvement. ( 28785926 )
2017
29
Total and High Molecular Weight Adiponectin Expression Is Decreased in Patients with Common Variable Immunodeficiency: Correlation with Ig Replacement Therapy. ( 28824624 )
2017
30
Erratum: Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia. ( 28240280 )
2017
31
Successful treatment of Common Variable Immunodeficiency-associated inflammatory bowel disease with Ustekinumab. ( 28333242 )
2017
32
Giardiasis mimicking celiac disease in a patient of common variable immunodeficiency. ( 29114494 )
2017
33
Role of Apoptosis in the Pathogenesis of Common Variable Immunodeficiency (CVID). ( 28925897 )
2017
34
An unusual cause of fever in a patient with common variable immunodeficiency. ( 28890017 )
2017
35
Can we effectively use radiographic imaging and clinical parameters for making an earlier diagnosis of granulomatous interstitial lung disease in patients with common variable immunodeficiency? ( 28477784 )
2017
36
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
37
Intra cranial granulomatous disease in common variable immunodeficiency: Case series and review of the literature. ( 29277461 )
2017
38
Common Variable Immunodeficiency with Several Gastrointestinal Manifestations. ( 28879211 )
2017
39
Follicular T Cells from smB(-) Common Variable Immunodeficiency Patients Are Skewed Toward a Th1 Phenotype. ( 28289412 )
2017
40
Chitotriosidase enzyme activity: is this a possible chronic inflammation marker in children with common variable immunodeficiency and early atherosclerosis? ( 27705887 )
2017
41
Posterior Cord Syndrome and Trace Elements Deficiency as an Uncommon Presentation of Common Variable Immunodeficiency. ( 28356913 )
2017
42
A Comparison of Clinical and Immunologic Phenotypes in Familial and Sporadic Forms of Common Variable Immunodeficiency. ( 28805315 )
2017
43
Disseminated histoplasmosis in a patient with common variable immunodeficiency: A coincidence or the result of T cell defects? ( 29085780 )
2017
44
Monomorphic epitheliotropic intestinal T-cell lymphoma complicated by common variable immunodeficiency. ( 29142526 )
2017
45
Respiratory Infections and Antibiotic Usage in Common Variable Immunodeficiency. ( 28734862 )
2017
46
Defective IL-4 signaling in T cells defines severe common variable immunodeficiency. ( 28476239 )
2017
47
Vaccine Associated Paralytic Poliomyelitis Unmasking Common Variable Immunodeficiency. ( 28361789 )
2017
48
Adults with common variable immunodeficiency: a single-center experience. ( 28263469 )
2017
49
Psoriasis: An Unusual Autoimmune Manifestation in a Boy with Common Variable Immunodeficiency. ( 28761856 )
2017
50
The role of genomics in common variable immunodeficiency disorders. ( 28236292 )
2017

Variations for Common Variable Immunodeficiency

Expression for Common Variable Immunodeficiency

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

Pathways for Common Variable Immunodeficiency

Pathways related to Common Variable Immunodeficiency according to KEGG:

36
# Name Kegg Source Accession
1 Primary immunodeficiency hsa05340

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

(show top 50) (show all 52)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.89 BTK CD19 CD27 CD40LG CD79A CD81
2
Show member pathways
13.84 BTK CD27 CD40LG IL2 IL4 NFKB1
3
Show member pathways
13.68 BTK CD27 CD40LG IL2 IL4 NFKB1
4
Show member pathways
13.46 BTK CD19 CD40LG CD79A CD81 ICOS
5
Show member pathways
13.43 BTK CD27 CD40LG IL2 IL4 NFKB1
6
Show member pathways
13.39 CD27 CD40LG IL2 IL4 NFKB1 NFKB2
7
Show member pathways
13.3 BTK CD27 CD40LG IL2 IL4 NFKB1
8
Show member pathways
13.24 BTK CD19 CD79A CD81 CR2 IL2
9
Show member pathways
12.9 CD40LG ICOS IL2 IL4 TNFRSF13B TNFRSF13C
10
Show member pathways
12.74 CD40LG IL2 NFKB1 NFKB2 PRKCD TNFRSF13C
11
Show member pathways
12.72 BTK CD19 CD79A ICOS NFKB1
12
Show member pathways
12.68 BTK CD40LG CD79A ICOS IL2 IL4
13
Show member pathways
12.66 CD27 CD40LG CR2 NFKB1 PRKCD
14
Show member pathways
12.61 BTK CD19 CD79A CD81 CR2 IL4
15
Show member pathways
12.59 BTK CD27 CD40LG NFKB1 PRKCD TNFRSF13B
16
Show member pathways
12.48 CD40LG ICOS IL2 IL4 NFKB1 PRKCD
17
Show member pathways
12.44 CR2 NFKB1 NFKB2 TNFRSF13B TNFRSF13C TNFSF13B
18
Show member pathways
12.43 IL2 NFKB1 NFKB2 PRKCD
19
Show member pathways
12.43 BTK CD19 CD79A CD81 CR2 NFKB1
20
Show member pathways
12.42 CD40LG ICOS IL2 NFKB1 PRKCD
21 12.41 IL2 NFKB1 NFKB2 TNFRSF13C
22
Show member pathways
12.33 IL2 IL4 NFKB1 NFKB2
23
Show member pathways
12.32 BTK NFKB1 NFKB2 PRKCD
24 12.29 CD19 CR2 NFKB1 NFKB2
25 12.09 CD19 CD40LG CD81 SH2D1A
26 12.05 CD19 CD79A IL2 IL4 MS4A1
27
Show member pathways
12 IL2 IL4 NFKB1 NFKB2
28 11.92 CD19 CR2 IL4 MS4A1
29 11.91 BTK CD40LG NFKB1 NFKB2 TNFRSF13C TNFSF13B
30 11.91 BTK CD19 CD40LG CD79A ICOS IL2
31 11.86 IL2 NFKB1 PRKCD
32
Show member pathways
11.82 CD27 CD40LG TNFRSF13B TNFRSF13C TNFSF12 TNFSF13B
33
Show member pathways
11.8 IL2 NFKB1 NFKB2
34 11.79 IL2 IL4 NFKB1
35 11.78 ICOS IL2 IL4
36
Show member pathways
11.75 CD40LG IL2 IL4
37 11.74 CD19 IL2 MS4A1
38
Show member pathways
11.72 CD40LG IL2 NFKB1 NFKB2
39 11.71 BTK NFKB1 PRKCD
40
Show member pathways
11.68 IL2 IL4 NFKB1
41
Show member pathways
11.66 CD40LG NFKB1 NFKB2 TNFRSF13B TNFSF12 TNFSF13B
42 11.61 CD27 CD40LG ICOS
43 11.53 CD19 CD27 CD40LG CR2 ICOS MS4A1
44 11.48 IL2 NFKB1 NFKB2
45 11.38 CD40LG CR2 ICOS IL4 NFKB1 TNFRSF13B
46 11.35 CD40LG IL2 IL4
47 11.3 CD40LG IL4 NFKB1
48 11.27 BTK CD40LG IL2 IL4 TNFSF12 TNFSF13B
49 11.27 BTK CD19 CD40LG CD79A ICOS TNFRSF13B
50 11.23 IL2 IL4 NFKB1

GO Terms for Common Variable Immunodeficiency

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.91 CD27 CD40LG ICOS IL2 IL4 NFKB1
2 plasma membrane GO:0005886 9.83 BTK CD19 CD27 CD40LG CD79A CD81
3 integral component of plasma membrane GO:0005887 9.81 CD19 CD27 CD40LG CD79A CD81 ICOS
4 external side of plasma membrane GO:0009897 9.17 CD19 CD27 CD40LG CD79A ICOS MS4A1

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.97 CD27 CD40LG CR2 ICOS IL2 IL4
2 cell surface receptor signaling pathway GO:0007166 9.95 CD19 CD27 CD79A CD81 TNFRSF13B
3 adaptive immune response GO:0002250 9.93 BTK CD79A IL2 SH2D1A TNFRSF13B TNFRSF13C
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.88 BTK CD40LG NFKB1 NFKB2
5 negative regulation of inflammatory response GO:0050728 9.82 IL2 NFKB1 PRKCD
6 B cell receptor signaling pathway GO:0050853 9.81 BTK CD19 CD79A
7 T cell costimulation GO:0031295 9.8 CD40LG ICOS TNFRSF13C TNFSF13B
8 B cell differentiation GO:0030183 9.78 CD40LG CD79A CR2 IL4
9 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.77 BTK NFKB1 NFKB2
10 cellular defense response GO:0006968 9.77 CD19 IL4 SH2D1A
11 B cell activation GO:0042113 9.73 BTK CD79A IL4 MS4A1
12 tumor necrosis factor-mediated signaling pathway GO:0033209 9.73 CD27 CD40LG TNFRSF13B TNFRSF13C TNFSF12 TNFSF13B
13 positive regulation of T cell proliferation GO:0042102 9.72 CD40LG IL2 IL4 TNFRSF13C TNFSF13B
14 B cell homeostasis GO:0001782 9.7 TNFRSF13B TNFRSF13C TNFSF13B
15 positive regulation of T cell differentiation GO:0045582 9.69 CD27 IL2 IL4
16 positive regulation of B cell differentiation GO:0045579 9.63 BTK CD27
17 cellular response to angiotensin GO:1904385 9.62 NFKB1 PRKCD
18 immunoglobulin mediated immune response GO:0016064 9.62 CD27 PRKCD
19 negative regulation of cytokine production GO:0001818 9.61 BTK NFKB1
20 positive regulation of isotype switching to IgG isotypes GO:0048304 9.61 IL2 IL4
21 immunoglobulin secretion GO:0048305 9.58 CD40LG TNFSF13B
22 positive regulation of germinal center formation GO:0002636 9.57 TNFRSF13C TNFSF13B
23 B cell costimulation GO:0031296 9.56 TNFRSF13C TNFSF13B
24 positive regulation of B cell proliferation GO:0030890 9.55 CD81 IL2 IL4 TNFRSF13C TNFSF13B
25 regulation of immune response GO:0050776 9.5 CD19 CD40LG CD81 IL4 SH2D1A TNFRSF13C
26 B cell proliferation GO:0042100 9.02 CD40LG CD79A CR2 MS4A1 PRKCD
27 innate immune response GO:0045087 10.04 BTK CR2 NFKB1 NFKB2 SH2D1A
28 negative regulation of apoptotic process GO:0043066 10.03 CD27 CD40LG IL2 IL4 NFKB1
29 regulation of receptor activity GO:0010469 10.01 CD40LG IL2 IL4 PRKCD TNFSF12 TNFSF13B
30 immune system process GO:0002376 10.01 BTK CD79A CR2 IL2 SH2D1A TNFRSF13B

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 9.13 CD40LG TNFSF12 TNFSF13B
2 cytokine activity GO:0005125 9.02 CD40LG IL2 IL4 TNFSF12 TNFSF13B
3 protein binding GO:0005515 10.09 BTK CD19 CD27 CD40LG CD79A CD81

Sources for Common Variable Immunodeficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....