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CVID
MCID: CMM004
MIFTS: 68

Common Variable Immunodeficiency (CVID)

Categories: Blood diseases, Immune diseases, Rare 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 12 74 52 25 58 36 29 54 6 43 15 37 71 32
Cvid 12 52 25 58
Idiopathic Immunoglobulin Deficiency 52 58
Common Variable Immune Deficiency 52 25
Acquired Hypogammaglobulinemia 12 71
Primary Hypogammaglobulinemia 52 58
Primary Antibody Deficiency 52 58
Common Variable Hypogamma-Globulinemia 52
Immunoglobulin Deficiency, Late-Onset 52
Common Variable Hypogammaglobulinemia 25
Common Variable Agammaglobulinemia 12
Immunodeficiency, Common Variable 25
Hypogamma-Globulinemia, Acquired 52
Sporadic Hypogammaglobulinemia 12
Acquired Agammaglobulinemia 12

Characteristics:

Orphanet epidemiological data:

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

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Immune diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
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. Approximately 25 percent of people with CVID have an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's tissues and organs. The blood cells are most frequently affected by autoimmune attacks in CVID; the most commonly occurring autoimmune disorders are immune thrombocytopenia, which is an abnormal bleeding disorder caused by a decrease in cells involved in blood clotting called platelets, and autoimmune hemolytic anemia, which results in premature destruction of red blood cells. Other autoimmune disorders such as rheumatoid arthritis can occur. Individuals with CVID also have a greater than normal risk of developing certain types of cancer, including a cancer of immune system cells called non-Hodgkin lymphoma and less frequently, stomach (gastric) cancer. People with CVID may start experiencing signs and symptoms of the disorder anytime between childhood and adulthood; most people with CVID are diagnosed in their twenties or thirties. The life expectancy of individuals with CVID varies depending on the severity and frequency of illnesses they experience. Most people with CVID live into adulthood. There are many different types of CVID that are distinguished by genetic cause. People with the same type of CVID may have varying signs and symptoms.

MalaCards based summary : Common Variable Immunodeficiency, also known as cvid, is related to immunodeficiency, common variable, 1 and immunodeficiency, common variable, 2. An important gene associated with Common Variable Immunodeficiency is NFKB1 (Nuclear Factor Kappa B Subunit 1), and among its related pathways/superpathways are Primary immunodeficiency and Innate Immune System. The drugs Rifaximin and Budesonide have been mentioned in the context of this disorder. Affiliated tissues include b cells, t cells and lung, and related phenotypes are chronic otitis media and brachycephaly

Disease Ontology : 12 An agammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells.

NIH Rare Diseases : 52 Common variable immunodeficiency (CVID) is a group of disorders characterized by low levels of a type of protein known as immunoglobulins (Ig). Because of low level of Ig, the immune system cannot make antibodies that fight bacteria , viruses or other toxins in the body. This leads to frequent infections, particularly in the sinuses, lungs, and digestive tract. Symptoms most commonly begin in early adulthood but can occur at any age. While in most cases the cause of CVID is unknown, a genetic change has been found in about one-third of cases. This condition is diagnosed based on the symptoms, specific laboratory testings, and exclusion of other disorders. Treatment for CVID includes Ig replacement therapy, which stops the cycle of recurrent infections. The long term outlook for people with CVID varies depending on the severity of the symptoms and any underlying conditions.

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

Wikipedia : 74 Common variable immunodeficiency (CVID) is an immune disorder characterized by recurrent infections and... more...

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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 679)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency, common variable, 1 34.5 NFKB2 ICOS
2 immunodeficiency, common variable, 2 34.2 TNFRSF13C TNFRSF13B ICOS CR2 CD19
3 agammaglobulinemia 33.7 CR2 CD40LG CD19 BTK
4 primary agammaglobulinemia 33.4 TNFRSF13C TNFRSF13B
5 immune deficiency disease 33.1 TNFSF13B TNFRSF13B SH2D1A RAG2 IL2 CR2
6 autoimmune lymphoproliferative syndrome, type iii 32.4 PRKCD LRBA
7 autoimmune disease 32.3 TNFSF13B TNFRSF13C TNFRSF13B IL2 CR2 CD40LG
8 immunoglobulin alpha deficiency 32.2 TNFSF13B TNFRSF13C TNFRSF13B CD40LG CD27 CD19
9 anemia, autoimmune hemolytic 31.9 TNFSF13B TNFRSF13B LRBA IL2 CD40LG CD19
10 thrombocytopenia 31.9 TNFSF13B TNFRSF13C TNFRSF13B IL2 CD40LG
11 lymphoma 31.8 TNFSF13B SH2D1A NFKB2 MS4A1 IL2 CR2
12 agammaglobulinemia, x-linked 31.7 SH2D1A IL2 CD40LG BTK
13 immunoglobulin a deficiency 1 31.7 TNFRSF13B CD40LG BTK
14 b-cell lymphoma 31.7 TNFSF13B TNFRSF13C NFKB2 MS4A1 CR2 CD19
15 lymphoma, non-hodgkin, familial 31.5 TNFSF13B TNFRSF13C TNFRSF13B SH2D1A MS4A1 IL2
16 t cell deficiency 31.5 LRBA IL2 CD40LG CD27 CD19
17 thrombocytopenia due to platelet alloimmunization 31.4 TNFSF13B TNFRSF13B CD40LG CD19
18 systemic lupus erythematosus 31.4 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B IL2 ICOS
19 lymphoma, mucosa-associated lymphoid type 31.3 TNFSF13B TNFRSF13C CR2 CD40LG CD19 BTK
20 lymphoid interstitial pneumonia 31.3 IL2 CD40LG CD19
21 severe combined immunodeficiency 31.2 TTC7A RAG2 IL2 CD27 CD19
22 dysgammaglobulinemia 31.2 TNFRSF13B SH2D1A CD40LG
23 transient hypogammaglobulinemia 31.1 TNFRSF13B CD40LG CD19
24 selective igg deficiency disease 31.1 TNFRSF13C TNFRSF13B CD40LG
25 chickenpox 31.0 IL2 CD40LG CD27 CD19
26 marginal zone b-cell lymphoma 31.0 CR2 CD40LG CD19 BTK
27 mulchandani-bhoj-conlin syndrome 31.0 CR2 CD40LG CD27 CD19
28 good syndrome 30.9 TNFRSF13B CD40LG CD19
29 transient hypogammaglobulinemia of infancy 30.9 TNFRSF13C TNFRSF13B SH2D1A CD40LG CD27 CD19
30 leukemia, chronic lymphocytic 30.9 TNFSF13B TNFRSF13C TNFRSF13B MS4A1 IL2 CR2
31 lymphoplasmacytic lymphoma 30.8 MS4A1 CD40LG BTK
32 immunodeficiency with hyper-igm, type 4 30.8 TNFSF13B TNFRSF13C CD40LG CD27
33 congenital hypogammaglobulinemia 30.8 CD40LG CD19 BTK
34 pfeiffer syndrome 30.8 SH2D1A IL2 CR2 CD40LG CD27 CD19
35 burkitt lymphoma 30.8 TNFSF13B SH2D1A MS4A1 CR2 CD40LG CD19
36 cryptococcal meningitis 30.8 TNFSF13B TNFRSF13C TNFRSF13B
37 cd40 ligand deficiency 30.8 TNFRSF13B SH2D1A CD40LG CD27 CD19 BTK
38 myeloma, multiple 30.8 TNFSF13B TNFRSF13C TNFRSF13B NFKB2 IL2 CD40LG
39 immunodeficiency with hyper-igm, type 1 30.8 TNFSF13B TNFRSF13B SH2D1A RAG2 CD40LG CD27
40 lymphoproliferative syndrome 30.8 SH2D1A PRKCD LRBA IL2 CD27
41 neuromyelitis optica 30.7 TNFSF13B CD40LG CD27
42 candidiasis 30.7 SH2D1A IL2 CD40LG
43 hemophagocytic lymphohistiocytosis 30.7 SH2D1A CR2 CD27
44 b cell deficiency 30.5 TNFSF13B TNFRSF13C TNFRSF13B SH2D1A RAG2 PRKCD
45 autoimmune lymphoproliferative syndrome 30.5 SH2D1A PRKCD LRBA IL2 CD40LG CD27
46 peripheral t-cell lymphoma 30.4 MS4A1 IL2 CD19
47 paralytic poliomyelitis 30.4 CD40LG BTK
48 myasthenia gravis 30.0 TNFSF13B IL2 CD40LG
49 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency 12.5
50 immunodeficiency, common variable, 10 12.3

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:

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

MGI Mouse Phenotypes related to Common Variable Immunodeficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.37 BTK CD19 CD27 CD40LG CD81 CR2
2 immune system MP:0005387 10.26 BTK CD19 CD27 CD40LG CD81 CR2
3 homeostasis/metabolism MP:0005376 10.22 BTK CD19 CD40LG CD81 CR2 ICOS
4 digestive/alimentary MP:0005381 10.1 BTK CD19 ICOS IL2 LRBA NFKB1
5 liver/biliary system MP:0005370 9.76 CD19 IL2 NFKB1 NFKB2 PRKCD RAG2
6 neoplasm MP:0002006 9.5 BTK CD19 ICOS IL2 RAG2 TNFRSF13B
7 renal/urinary system MP:0005367 9.17 CD19 CD40LG CR2 NFKB2 PRKCD TNFRSF13B
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 95)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rifaximin Approved, Investigational Phase 4 80621-81-4 6436173 46783403
2
Budesonide Approved Phase 4 51333-22-3 63006 5281004
3 Rho(D) Immune Globulin Phase 4
4 gamma-Globulins Phase 4
5 Complement C1 Inactivator Proteins Phase 4
6 Complement C1 Inhibitor Protein Phase 4
7 Complement C1s Phase 4
8 Hormones Phase 4
9 Hormone Antagonists Phase 4
10 glucocorticoids Phase 4
11 Anti-Inflammatory Agents Phase 4
12 Respiratory System Agents Phase 4
13 Anti-Asthmatic Agents Phase 4
14 Bronchodilator Agents Phase 4
15 Immunoglobulins Phase 4
16 Antibodies Phase 4
17 Immunoglobulins, Intravenous Phase 4
18 Pharmaceutical Solutions Phase 4
19 Immunoglobulin G Phase 4
20
Proline Nutraceutical Phase 3 147-85-3 145742
21
Peginterferon alfa-2a Approved, Investigational Phase 2 198153-51-4 5360545
22
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
23
Melphalan Approved Phase 2 148-82-3 460612 4053
24
Mesna Approved, Investigational Phase 2 3375-50-6 598
25
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
26
Dipyridamole Approved Phase 2 58-32-2 3108
27
Pentostatin Approved, Investigational Phase 2 53910-25-1 439693 40926
28
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
29
Hydroxyurea Approved Phase 2 127-07-1 3657
30
Ustekinumab Approved, Investigational Phase 1, Phase 2 815610-63-0
31
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
32
alemtuzumab Approved, Investigational Phase 2 216503-57-0
33
Busulfan Approved, Investigational Phase 2 55-98-1 2478
34
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
35
Mycophenolic acid Approved Phase 2 24280-93-1 446541
36
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
37 Interferon alpha-2 Phase 2
38 interferons Phase 2
39 Interferon-alpha Phase 2
40 Thymoglobulin Phase 1, Phase 2
41 Phosphodiesterase Inhibitors Phase 2
42 Vasodilator Agents Phase 2
43 Platelet Aggregation Inhibitors Phase 2
44 Interleukin-12 Phase 1, Phase 2
45 Immunologic Factors Phase 2
46 Anti-Bacterial Agents Phase 2
47 Anti-Infective Agents Phase 2
48 Immunosuppressive Agents Phase 2
49 Alkylating Agents Phase 2
50 Calcineurin Inhibitors Phase 2

Interventional clinical trials:

(show top 50) (show all 63)
# Name Status NCT ID Phase Drugs
1 Effects of Rifaximin, by Modulation of the Gut Microbiota, on Markers of Systemic Inflammation in Patients With Common Variable Immunodeficiency - An Exploratory Open-label Randomized Controlled Trial Completed NCT01946906 Phase 4 Rifaximin
2 A Multicenter Study on the Efficacy and Safety of Vivaglobin® in Previously Untreated Patients (PUPs) With Primary Immunodeficiency (PID) Completed NCT00520494 Phase 4 Vivaglobin
3 A Phase IV, Multicenter, Open-Label Study to Evaluate the Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases (PID) in Children and Adolescents Completed NCT01289847 Phase 4
4 Evaluation of the Efficacy and Safety of Flebogamma 5% DIF [Immune Globulin Intravenous (Human)] for Replacement Therapy in Pediatric Subjects With Primary Immunodeficiency Diseases. Completed NCT00634569 Phase 4
5 A Single-site, Open-Label, Pilot Study to Evaluate the Benefit of RUCONEST® in Subjects Who Experience ADRs Related to IVIG Infusions Recruiting NCT03576469 Phase 4
6 Open-label Withdrawal Trial of Budesonide in Patients With Immune Mediated Enteropathies Recruiting NCT03866538 Phase 4 Withdrawal of Oral Budesonide
7 Immunoglobulin Replacement Therapy for Immunoglobulin G Subclass 2 Deficient Patients With Bronchiectasis- A Proof of Concept Study Suspended NCT03737617 Phase 4 Cuvitru 20 % Injectable Solution
8 A Multi-centre Open Study to Assess the Safety and Efficacy of Subgam® Given Via the Subcutaneous Route in Primary Antibody Deficient Patients. Completed NCT02247141 Phase 3
9 A Phase III, Multicenter, Open-Label Study To Evaluate The Efficacy, Safety, and Pharmacokinetics of Gammaplex® in Primary Immunodeficiency Diseases Completed NCT00278954 Phase 3
10 A Multicenter Study on the Efficacy, Safety and Pharmacokinetics of IgPro10 in Patients With Primary Immunodeficiency (PID) Completed NCT00168025 Phase 3 Immunoglobulins Intravenous (Human)
11 An Open Study to Evaluate the Safety and Efficacy of IVIG-F10 in Patients With Primary Immunodeficiency Diseases (PID) Completed NCT00168012 Phase 3 Immunoglobulins Intravenous (Human)
12 A Multicenter Extension Study on the Safety and Efficacy of IgPro10 in Patients With Primary Immunodeficiency (PID) Completed NCT00322556 Phase 3 Immunoglobulins Intravenous (Human)
13 A Multicentre Study of the Efficacy, Tolerability, Safety, and Pharmacokinetics of Immune Globulin Subcutaneous (Human) IgPro20 in Subjects With Primary Immunodeficiency Completed NCT00542997 Phase 3
14 A Clinical Study of Immune Globulin Intravenous (Human) Omr-IgG-am IGIV in Subjects With Primary Immune Deficiency Diseases Completed NCT00468273 Phase 3 Immune Globulin Intravenous (Human) Omr-IgG-am IGIV
15 A Phase III, Multicenter, Open-Label Study to Evaluate the Pharmacokinetics and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
16 A Phase III, Multicenter, Open-label, Randomized, Two-Period, Crossover Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
17 A Multicenter Extension Study of the Efficacy, Tolerability, and Safety of Immune Globulin Subcutaneous (Human) IgPro20 in Subjects With Primary Immunodeficiency (PID) Completed NCT00719680 Phase 3
18 IGIV-C 10% Rapid Infusion Trial in Primary Immune Deficient Patients Completed NCT00220766 Phase 3 Immune Globulin Intravenous [Human], 10% Caprylate/Chromatography Purified;Dextrose, 5% in Water
19 An Open-label, Non-randomized, Within-patient Dose-finding Study Followed by a Randomized, Subject, Investigator and Sponsor-blinded Placebo Controlled Study to Assess the Efficacy and Safety of CDZ173 in Patients With APDS/PASLI Recruiting NCT02435173 Phase 2, Phase 3 CDZ173
20 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
21 A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
22 PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
23 A Randomized, Open-label Study of the Vascular and Microbiologic Efficacy of Dipyridamole Plus Standard Care vs. Standard Care in Hospitalized COVID19 Patients Recruiting NCT04424901 Phase 2 Dipyridamole
24 Pilot Trial of Allogeneic Blood or Marrow Transplantation for Primary Immunodeficiencies Recruiting NCT02579967 Phase 2 Immunosuppression Only Conditioning - Closed with amendment L;Reduced Intensity Conditioning;Myeloablative Conditioning-Closed with amendment L;GVHD Prophylaxis
25 Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Disorders of T-cell Proliferation and/or Dysregulation Recruiting NCT03663933 Phase 2 Immunosuppression Only Conditioning (IOC);Reduced Intensity Conditioning (RIC);GVHD Prophylaxis
26 A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤55 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
27 An Open-Label Phase I/II Pilot Study to Assess the Safety/Tolerability and Efficacy of Ustekinumab for Symptomatic Gastrointestinal Inflammation Associated With Common Variable Immunodeficiency Active, not recruiting NCT02199496 Phase 1, Phase 2
28 Bilateral Orthotopic Lung Transplant in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant From Partially HLA-Matched Cadaveric Donors Enrolling by invitation NCT01852370 Phase 1, Phase 2
29 A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immunodeficiency Diseases Not yet recruiting NCT04339777 Phase 2 Busulfan test dose;Fludarabine;Busulfan;Alemtuzumab;Tacrolimus (Tacro);Mycophenolate mofetil (MMF);Cyclophosphamide (Cytoxan)
30 Randomised, Multicentric, Phase ii Study of the Immunogenicity of a "Prime Boost" Vaccination Strategy Combining Conjugated Anti- Pneumococcal Vaccine (s0) and Polysaccharide Anti- Pneumococcal Vaccine (s4) Compared to Polysaccharide Anti- Pneumococcal Vaccine Alone (s4) In Patients With Common Variable Immunodeficiency Terminated NCT01489618 Phase 2
31 Clinical Trial to Assess the Efficacy of Rituximab and Azathioprine in the Treatment of Granulomatous and Lymphocytic Interstitial Lung Disease (GLILD) in Adult Patients With Common Variable Immunodeficiency (CVID) Withdrawn NCT02789397 Phase 2 Rituximab (RTX) and Azathioprine (AZA);Placebos
32 A Pilot Study of Safety and Efficacy of the Oral IL-12/23 Inhibitor, STA-5326 Mesylate, for Symptomatic Gastrointestinal Inflammation Associated With Common Variable Immunodeficiency Completed NCT00263237 Phase 1 STA-5326
33 A Phase I Dose Escalation Study of B-Lymphocyte Stimulator (BLyS) Administered Subcutaneously in Patients With Selective IgA Deficiency Completed NCT00024934 Phase 1 B-Lymphocyte Stimulator (BLyS)
34 Undetectable IgE as a Sentinel Biomarker for Humoral Immunodeficiency Recruiting NCT03968211 Phase 1
35 Investigation of the Lymphocyte Surface Expression of Patients With Primary Immunodeficiency (Common Variable Immunodeficiency (CVID)), Compared to Controls Unknown status NCT01196702
36 Improving the Diagnosis of CVID by Analysis of Innate and Adaptive Signaling Pathways Unknown status NCT02680652
37 Investigation of Molecular, Genetic and Cellular Mechanisms of Human Immune Disorders and Deficiencies Unknown status NCT01981785
38 Consequences of DNA Repair and Telomere Defects on the Function of the Immune System: Application to CVID and Immune Deficiencies With Dysmorphic Syndromes Unknown status NCT02556359
39 To Evaluate Bacteriophage OX174 Antigen as a Useful Immunogen in Patients With Immune Deficiency Unknown status NCT01617122
40 Phenotype-genotype Correlation in a Sub-population of Severe Primary Immunodeficiency With Lymphoproliferation and Neutropenia Completed NCT03427593
41 Randomized Study of Polyethylene-Glycol-Conjugated Interleukin 2 in Patients With Common Variable Immunodeficiency Completed NCT00004695 PEG-interleukin-2
42 The Immune Basis for the Gastrointestinal Complications of Common Variable Immunodeficiency Completed NCT00015431
43 Effects of Intravenous Human Polyclonal Immunoglobulins G Infusion on Endothelial Function and Insulin Sensitivity in Humans Completed NCT03534479 Polyclonal IgG
44 Serum IgG Antibody to Streptococcus Pneumoniae, Haemophilus Influenzae Type b and Tetanus Toxoid in Patients With Primary Antibody Deficiencies Treated With Subcutaneous Immunoglobulin Infusions Completed NCT00661401
45 Construction and Validation of a Health-related Quality of Life (HR-QOL) Instrument for Patients With Primary Antibody Deficiency Disease Completed NCT02542228
46 Gammaglobulins Level is Predictive Factor of Evolution in Sarcoidosis Completed NCT03259282
47 Retrospective Study of the Breadth of Donor Options for Patients With Inherited Diseases Requiring Allogeneic Hematopoietic Stem Cell Transplant in the Era of Alternative Donor Transplants Using Post-Transplantation Cyclophosphamide Completed NCT03188419
48 The Impact of Exercise on Stress, Fatigue, and Quality of Life in Individuals With Primary Immunodeficiency Disease Completed NCT03211689
49 Intravenous Immunoglobulin for Early Prevention of Cardiopulmonary Bypass Induced Hypogammaglobulinemia in Infants and Neonates Completed NCT02043379 IVIG
50 Improving the Diagnosis of Common Variable Immune Deficiency by Analysis of Innate and Adaptive Signaling Pathways Recruiting NCT03335605

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:

40
B Cells, T Cells, Lung, Liver, Testes, Bone, Spleen
Sources

Publications for Common Variable Immunodeficiency

About this section

Articles related to Common Variable Immunodeficiency:

(show top 50) (show all 2670)
# Title Authors PMID Year
1
TACI mutation in common variable immunodeficiency and IgA deficiency. 61 6 54
16899196 2006
2
TACI is mutant in common variable immunodeficiency and IgA deficiency. 54 6 61
16007086 2005
3
Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. 54 61 6
16007087 2005
4
Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. 6 54 61
12577056 2003
5
Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency. 6 61
26279205 2015
6
The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function. 6 61
19605846 2009
7
B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. 61 6
19666484 2009
8
Novel mutations in a Japanese patient with CD19 deficiency. 6 61
17882224 2007
9
Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID). 6 61
17492055 2007
10
Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q. 61 6
16639407 2006
11
ICOS deficiency in patients with common variable immunodeficiency. 6 61
15507387 2004
12
Common variable immunodeficiency (CVID) in a family: an autosomal dominant mode of inheritance. 61 6
11583829 2001
13
Common Variable Immunodeficiency and Liver Involvement. 52 61
28785926 2018
14
Review: Diagnosing Common Variable Immunodeficiency Disorder in the Era of Genome Sequencing. 61 52
29030829 2018
15
Genetic CD21 deficiency is associated with hypogammaglobulinemia. 6
22035880 2012
16
Antibody deficiency due to a missense mutation in CD19 demonstrates the importance of the conserved tryptophan 41 in immunoglobulin superfamily domain formation. 6
21330302 2011
17
Defects in the CD19 complex predispose to glomerulonephritis, as well as IgG1 subclass deficiency. 6
21159371 2011
18
CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. 6
20237408 2010
19
CD20 deficiency in humans results in impaired T cell-independent antibody responses. 6
20038800 2010
20
An antibody-deficiency syndrome due to mutations in the CD19 gene. 6
16672701 2006
21
Phenotypic and clinical heterogeneity associated with monoallelic TNFRSF13B-A181E mutations in common variable immunodeficiency. 54 61
20156508 2010
22
Use of cytokine therapy in primary immunodeficiency. 61 54
19449141 2010
23
Association of IL-4 and IL-10 gene promoter polymorphisms with common variable immunodeficiency. 61 54
19249119 2010
24
Selective IgA deficiency. 61 54
20101521 2010
25
Mannose-binding lectin polymorphisms in common variable immunodeficiency. 54 61
19408100 2009
26
The outcome of patients with unclassified hypogammaglobulinemia in early childhood. 61 54
19196447 2009
27
Novel mutations in TACI (TNFRSF13B) causing common variable immunodeficiency. 61 54
19629655 2009
28
Nodular lymphoid hyperplasia in common variable immunodeficiency syndrome mimicking familial adenomatous polyposis on endoscopy. 61 54
19805964 2009
29
An evolutionary approach to the medical implications of the tumor necrosis factor receptor superfamily member 13B (TNFRSF13B) gene. 54 61
19494827 2009
30
Role of polymorphisms in the TNFRSF13B (TACI) gene in Spanish patients with immunoglobulin A deficiency. 61 54
19392801 2009
31
The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency. 61 54
19020530 2009
32
Chronic active gastritis in X-linked lymphoproliferative disease. 61 54
18223336 2008
33
Reduced interleukin-5 production by peripheral CD4+ T cells in common variable immunodeficiency patients. 61 54
18686101 2008
34
Analysis of genetic defects in patients with the common variable immunodeficiency phenotype in a single Taiwanese tertiary care hospital. 54 61
18051214 2007
35
Transmembrane activator and calcium modulator and cyclophilin ligand interactor enhances CD40-driven plasma cell differentiation. 61 54
17689597 2007
36
High serum levels of BAFF, APRIL, and TACI in common variable immunodeficiency. 61 54
17556024 2007
37
The clinical significance of immunoglobulin A deficiency. 54 61
17362578 2007
38
Frequency and clinical manifestations of patients with primary immunodeficiency disorders in Iran: update from the Iranian Primary Immunodeficiency Registry. 54 61
17024564 2006
39
The expression of CD40 on monocytes of children with primary humoral immunodeficiencies. 61 54
16641210 2006
40
TACI mutation with invasive polyclonal CD8+ T-cell lymphoproliferation in a patient with common variable immunodeficiency. 54 61
16630947 2006
41
CD8+HLA-DR+ T lymphocytes are increased in common variable immunodeficiency patients with impaired memory B-cell differentiation. 54 61
16413828 2006
42
The prevalence of humoral immunodeficiency in refractory rhinosinusitis: a retrospective analysis. 61 54
17256402 2006
43
Rapid whole blood flow cytometric test to detect ICOS deficiency in patients with common variable immunodeficiency. 54 61
16757923 2006
44
TACItly changing tunes: farewell to a yin and yang of BAFF receptor and TACI in humoral immunity? New genetic defects in common variable immunodeficiency. 61 54
16264328 2005
45
Common variable immunodeficiency and the complement system; low mannose-binding lectin levels are associated with bronchiectasis. 54 61
16297171 2005
46
Mutational analysis of human BAFF receptor TNFRSF13C (BAFF-R) in patients with common variable immunodeficiency. 61 54
16160919 2005
47
Normal ICOS, ICOSL and AID alleles in Danish patients with common variable immunodeficiency. 61 54
15963052 2005
48
Vitamin a deficiency in patients with common variable immunodeficiency. 61 54
15981093 2005
49
Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency. 54 61
15320910 2004
50
B lymphocytes from individuals with common variable immunodeficiency respond to B lymphocyte stimulator (BLyS protein) in vitro. 54 61
14597212 2003
Sources

Variations for Common Variable Immunodeficiency

About this section

ClinVar genetic disease variations for Common Variable Immunodeficiency:

6 (show all 38) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTC7A NM_020458.4(TTC7A):c.793C>T (p.Arg265Trp)SNV Pathogenic 827752 2:47220617-47220617 2:46993478-46993478
2 NFKB1 NM_003998.4(NFKB1):c.260T>G (p.Ile87Ser)SNV Pathogenic 827719 4:103488145-103488145 4:102566988-102566988
3 NFKB1 NM_003998.4(NFKB1):c.293T>A (p.Val98Asp)SNV Pathogenic 827720 4:103488178-103488178 4:102567021-102567021
4 NFKB1 NM_003998.4(NFKB1):c.843C>G (p.Ile281Met)SNV Pathogenic 827721 4:103504030-103504030 4:102582873-102582873
5 TTC7A NM_020458.4(TTC7A):c.1802+3G>CSNV Pathogenic 827747 2:47256526-47256526 2:47029387-47029387
6 NFKB1 NM_003998.4(NFKB1):c.1423del (p.Ala475fs)deletion Pathogenic 827723 4:103517416-103517416 4:102596259-102596259
7 RAG2 NM_000536.4(RAG2):c.629T>C (p.Ile210Thr)SNV Pathogenic 827734 11:36615090-36615090 11:36593540-36593540
8 NFKB1 deletion Pathogenic 827830 4:103370996-103528207
9 NFKB1 deletion Pathogenic 827831 4:103436974-103652655
10 NFKB1 NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter)SNV Pathogenic/Likely pathogenic 827726 4:103504037-103504037 4:102582880-102582880
11 NFKB1 NM_003998.4(NFKB1):c.830dup (p.Lys278fs)duplication Pathogenic/Likely pathogenic 636694 4:103501790-103501791 4:102580633-102580634
12 RAG2 NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala)SNV Conflicting interpretations of pathogenicity 13138 rs121918575 11:36614367-36614367 11:36592817-36592817
13 TNFSF12 NM_003809.3(TNFSF12):c.716T>C (p.Phe239Ser)SNV Uncertain significance 638913 17:7460633-7460633 17:7557316-7557316
14 TNFSF12 NM_003809.3(TNFSF12):c.673C>T (p.Arg225Trp)SNV Uncertain significance 649356 17:7460590-7460590 17:7557273-7557273
15 TNFSF12 NM_003809.3(TNFSF12):c.443G>A (p.Arg148His)SNV Uncertain significance 640807 17:7460164-7460164 17:7556847-7556847
16 TNFSF12 NM_003809.3(TNFSF12):c.269G>A (p.Arg90Gln)SNV Uncertain significance 654786 17:7453498-7453498 17:7550181-7550181
17 TNFSF12 NM_003809.3(TNFSF12):c.64G>C (p.Val22Leu)SNV Uncertain significance 657607 17:7452534-7452534 17:7549217-7549217
18 TNFSF12 NM_003809.3(TNFSF12):c.205_207dup (p.Ser69dup)duplication Uncertain significance 568170 rs753259588 17:7452833-7452834 17:7549516-7549517
19 TNFSF12 NM_003809.3(TNFSF12):c.655C>T (p.Arg219Trp)SNV Uncertain significance 837160 17:7460572-7460572 17:7557255-7557255
20 TNFSF12 NM_003809.3(TNFSF12):c.365C>T (p.Ala122Val)SNV Uncertain significance 838148 17:7454287-7454287 17:7550970-7550970
21 TNFSF12 NM_003809.3(TNFSF12):c.266T>C (p.Val89Ala)SNV Uncertain significance 847767 17:7453495-7453495 17:7550178-7550178
22 TNFSF12 NM_003809.3(TNFSF12):c.194A>C (p.Asp65Ala)SNV Uncertain significance 834165 17:7452825-7452825 17:7549508-7549508
23 TNFSF12 NM_003809.3(TNFSF12):c.109C>T (p.Leu37Phe)SNV Uncertain significance 849246 17:7452579-7452579 17:7549262-7549262
24 TNFSF12 NM_003809.3(TNFSF12):c.23G>A (p.Arg8Lys)SNV Uncertain significance 861833 17:7452493-7452493 17:7549176-7549176
25 TNFSF12 NM_003809.3(TNFSF12):c.43G>A (p.Glu15Lys)SNV Uncertain significance 526011 rs768061768 17:7452513-7452513 17:7549196-7549196
26 CD40LG NM_000074.3(CD40LG):c.98T>A (p.Ile33Asn)SNV Uncertain significance 827696 X:135730505-135730505 X:136648346-136648346
27 TNFSF12 NM_003809.3(TNFSF12):c.159+5G>CSNV Uncertain significance 847863 17:7452634-7452634 17:7549317-7549317
28 TNFSF12 NM_003809.3(TNFSF12):c.679C>T (p.Arg227Cys)SNV Uncertain significance 565681 rs1414804824 17:7460596-7460596 17:7557279-7557279
29 TNFSF12 NM_003809.3(TNFSF12):c.177G>C (p.Glu59Asp)SNV Uncertain significance 567668 rs868687352 17:7452808-7452808 17:7549491-7549491
30 TNFSF12 NM_003809.3(TNFSF12):c.450C>T (p.Ile150=)SNV Likely benign 526012 rs147597489 17:7460171-7460171 17:7556854-7556854
31 TNFSF12 NM_003809.3(TNFSF12):c.42G>A (p.Gly14=)SNV Likely benign 526013 rs1170763703 17:7452512-7452512 17:7549195-7549195
32 TNFSF12 NM_003809.3(TNFSF12):c.498+9deldeletion Likely benign 455756 rs1356188583 17:7460225-7460225 17:7556908-7556908
33 TNFSF12 NM_003809.3(TNFSF12):c.357G>A (p.Gln119=)SNV Likely benign 785761 17:7454279-7454279 17:7550962-7550962
34 TNFSF12 NM_003809.3(TNFSF12):c.374-9C>TSNV Likely benign 745499 17:7460086-7460086 17:7556769-7556769
35 TNFSF12 NM_003809.3(TNFSF12):c.642G>T (p.Gly214=)SNV Benign 455758 rs4968189 17:7460559-7460559 17:7557242-7557242
36 TNFSF12 NM_003809.3(TNFSF12):c.338-9A>GSNV Benign 455755 rs114577645 17:7454251-7454251 17:7550934-7550934
37 TNFSF12 NM_003809.3(TNFSF12):c.597G>A (p.Ala199=)SNV Benign 526014 rs143039184 17:7460514-7460514 17:7557197-7557197
38 TNFSF12 NM_003809.3(TNFSF12):c.429T>G (p.Pro143=)SNV Benign 709536 17:7460150-7460150 17:7556833-7556833
Sources

Expression for Common Variable Immunodeficiency

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

Pathways for Common Variable Immunodeficiency

About this section

Pathways related to Common Variable Immunodeficiency according to KEGG:

36
# Name Kegg Source Accession
1 Primary immunodeficiency hsa05340

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

(show all 42)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.9 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B SH2D1A RAG2
2
ERK Signaling 63
Show member pathways
 13.8 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B PRKCD NFKB1
3
PEDF Induced Signaling 63
Show member pathways
 13.63 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B PRKCD NFKB1
4
Class I MHC mediated antigen processing and presentation 65
Show member pathways
 13.41 SH2D1A NFKB1 ICOS CD81 CD40LG CD19
5
Akt Signaling 63
Show member pathways
 13.34 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B PRKCD NFKB1
6
Cytokine Signaling in Immune system 65
Show member pathways
 13.28 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B RAG2 PRKCD
7
PAK Pathway 63
Show member pathways
 13.22 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B PRKCD NFKB1
8
IL-2 Pathway 63
Show member pathways
 13.18 PRKCD NFKB1 IL2 CR2 CD81 CD19
9
TNFR1 Pathway 63
Show member pathways
 13.03 TNFSF13B TNFSF12 PRKCD NFKB2 NFKB1 BTK
10
Allograft rejection 1 36
Show member pathways
 12.83 TNFSF13B TNFRSF13C TNFRSF13B IL2 ICOS CD40LG
11
Measles 36
Show member pathways
 12.79 NFKB2 NFKB1 IL2 CR2 CD19 BTK
12
4-1BB Pathway 63
Show member pathways
 12.64 PRKCD NFKB1 CR2 CD40LG CD27
13
NF-KappaB Family Pathway 63
Show member pathways
 12.64 TNFSF13B TNFRSF13C PRKCD NFKB2 NFKB1 IL2
14
Immune response NFAT in immune response 22
Show member pathways
 12.6 NFKB2 NFKB1 IL2 ICOS CD40LG BTK
15
T cell receptor signaling pathway 36
Show member pathways
 12.58 PRKCD NFKB1 IL2 ICOS CD40LG
16
Immune response Fc epsilon RI pathway 22
Show member pathways
 12.54 NFKB2 NFKB1 CR2 CD81 CD19 BTK
17
TRAF Pathway 63
Show member pathways
 12.46 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B PRKCD NFKB1
18
B Cell Receptor Signaling Pathway (sino) 66
Show member pathways
 12.42 PRKCD NFKB2 NFKB1 CD19 BTK
19
Apoptosis Pathway 70
Show member pathways
 12.4 PRKCD NFKB2 NFKB1 IL2
20
RANK Signaling in Osteoclasts 63
Show member pathways
 12.4 TNFSF13B TNFRSF13C TNFRSF13B NFKB2 NFKB1 CR2
21
B cell receptor signaling pathway (KEGG) 36
Show member pathways
 12.38 PRKCD NFKB1 CR2 CD81 CD19 BTK
22
ICos-ICosL Pathway in T-Helper Cell 63
Show member pathways
 12.35 PRKCD NFKB1 IL2 ICOS CD40LG
23
Human T-cell leukemia virus 1 infection 36
12.3 TNFRSF13C NFKB2 NFKB1 IL2
24
Development A3 receptor signaling 22
Show member pathways
 12.29 PRKCD NFKB2 NFKB1 BTK
25
C-type lectin receptor signaling pathway 36
Show member pathways
 12.19 PRKCD NFKB2 NFKB1 IL2 BTK
26
NF-kappaB Signaling 4
12.17 TNFSF13B TNFSF12 SH2D1A NFKB2 NFKB1 IL2
27
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell 65
12.05 SH2D1A CD81 CD40LG CD19
28
NF-kB(NFkB) Pathway 66
11.89 PRKCD NFKB2 NFKB1 BTK
29
Hematopoietic cell lineage 36
11.86 MS4A1 CR2 CD19
30
NF-kappa B signaling pathway 36
11.86 TNFSF13B TNFRSF13C NFKB2 NFKB1 CD40LG BTK
31
Corticotropin-releasing hormone signaling pathway 1
11.82 PRKCD NFKB1 IL2
32
LT-BetaR Pathway 63
Show member pathways
 11.76 NFKB2 NFKB1 IL2
33
Dendritic Cells Developmental Lineage Pathway 64
11.71 MS4A1 IL2 CD19
34
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.65 NFKB2 NFKB1 IL2 CD40LG
35
TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions 64
Show member pathways
 11.65 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B CD40LG CD27
36
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway 22
Show member pathways
 11.5 TNFSF13B TNFSF12 TNFRSF13B NFKB2 NFKB1 CD40LG
37
Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway 1
11.49 NFKB2 NFKB1 BTK
38
Tacrolimus/Cyclosporine Pathway, Pharmacodynamics 60
11.45 NFKB2 NFKB1 IL2
39
Telomere Extension by Telomerase 63
Show member pathways
 11.17 NFKB2 NFKB1 IL2
40
G-protein signaling_Rap2B regulation pathway 22
11 TNFSF13B TNFSF12 NFKB1 IL2 CD40LG BTK
41
Primary immunodeficiency 36
10.75 TNFRSF13C TNFRSF13B RAG2 ICOS CD40LG CD19
42
Interleukin-1 processing 65
10.5 NFKB2 NFKB1
Sources

GO Terms for Common Variable Immunodeficiency

About this section

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 9.76 TNFSF12 TNFRSF13B MS4A1 ICOS CD81 CD40LG
2 plasma membrane GO:0005886 9.5 TTC7A TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B PRKCD
3 external side of plasma membrane GO:0009897 9.43 TNFRSF13C MS4A1 ICOS CD40LG CD27 CD19
4 I-kappaB/NF-kappaB complex GO:0033256 9.26 NFKB2 NFKB1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.99 SH2D1A NFKB2 NFKB1 CR2 BTK
2 immune response GO:0006955 9.99 TNFSF13B TNFSF12 IL2 ICOS CR2 CD40LG
3 regulation of immune response GO:0050776 9.89 TNFSF13B SH2D1A CD81 CD40LG CD19
4 adaptive immune response GO:0002250 9.87 TNFRSF13C TNFRSF13B SH2D1A IL2 CD81 CD19
5 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.86 NFKB2 NFKB1 CD40LG BTK
6 B cell differentiation GO:0030183 9.76 RAG2 MS4A1 CR2 CD40LG
7 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.74 NFKB2 NFKB1 BTK
8 positive regulation of T cell proliferation GO:0042102 9.71 TNFSF13B TNFRSF13C IL2 CD40LG
9 T cell costimulation GO:0031295 9.67 TNFSF13B TNFRSF13C ICOS CD40LG
10 B cell homeostasis GO:0001782 9.65 TNFSF13B TNFRSF13C TNFRSF13B
11 immunoglobulin mediated immune response GO:0016064 9.61 PRKCD CD27 CD19
12 immune system process GO:0002376 9.61 TNFSF13B TNFRSF13C TNFRSF13B SH2D1A IL2 CR2
13 positive regulation of B cell differentiation GO:0045579 9.58 CD27 BTK
14 cellular response to angiotensin GO:1904385 9.58 PRKCD NFKB1
15 positive regulation of B cell proliferation GO:0030890 9.56 TNFSF13B TNFRSF13C IL2 CD81
16 immunoglobulin secretion GO:0048305 9.55 TNFSF13B CD40LG
17 B cell costimulation GO:0031296 9.54 TNFSF13B TNFRSF13C
18 positive regulation of germinal center formation GO:0002636 9.52 TNFSF13B TNFRSF13C
19 B cell proliferation GO:0042100 9.46 PRKCD MS4A1 CR2 CD40LG
20 tumor necrosis factor-mediated signaling pathway GO:0033209 9.1 TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B CD40LG CD27

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.6 TTC7A TNFSF13B TNFSF12 TNFRSF13B SH2D1A RAG2
2 cytokine activity GO:0005125 9.46 TNFSF13B TNFSF12 IL2 CD40LG
3 MHC class II protein complex binding GO:0023026 9.26 MS4A1 CD81
4 tumor necrosis factor receptor binding GO:0005164 9.13 TNFSF13B TNFSF12 CD40LG
Sources

Sources for Common Variable Immunodeficiency

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