Common Variable Immunodeficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CVID MCID: CMM004 MIFTS: 69	Common Variable Immunodeficiency (CVID) Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Common Variable Immunodeficiency

MalaCards integrated aliases for Common Variable Immunodeficiency:

Name: Common Variable Immunodeficiency ¹¹ ¹⁹ ⁴² ⁵⁸ ⁷⁵ ⁵³ ⁴³ ¹⁴ ³⁶ ⁷¹ ³¹

Cvid ¹¹ ¹⁹ ⁴² ⁵⁸

Common Variable Agammaglobulinemia ¹¹ ²⁸ ⁵

Idiopathic Immunoglobulin Deficiency ¹⁹ ⁵⁸

Common Variable Immune Deficiency ¹⁹ ⁴²

Hypogamma-Globulinemia, Acquired ¹⁹ ⁵

Acquired Hypogammaglobulinemia ¹¹ ⁷¹

Primary Hypogammaglobulinemia ¹⁹ ⁵⁸

Primary Antibody Deficiency ¹⁹ ⁵⁸

Common Variable Hypogamma-Globulinemia ¹⁹

Immunoglobulin Deficiency, Late-Onset ¹⁹

Common Variable Hypogammaglobulinemia ⁴²

Immunodeficiency, Common Variable ⁴²

Sporadic Hypogammaglobulinemia ¹¹

Acquired Agammaglobulinemia ¹¹

Characteristics:

Inheritance:

Autosomal dominant,Autosomal recessive ⁵⁸

Prevelance:

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

Age Of Onset:

All ages ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Immune diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Common variable immunodeficiency

Common variable immunodeficiency with autoantibodies to B- or T-cells

Common variable immunodeficiency with predominant abnormalities of B-cell numbers and function

Common variable immunodeficiency with predominant immunoregulatory T-cell disorders

Common variable immunodeficiency, unspecified

Other common variable immunodeficiencies

Orphanet: ⁵⁸

Rare immunological diseases

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Summaries for Common Variable Immunodeficiency

MedlinePlus Genetics: ⁴² Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinal tract, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas.Approximately 25 percent of people with CVID have an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's tissues and organs. The blood cells are most frequently affected by autoimmune attacks in CVID; the most commonly occurring autoimmune disorders are immune thrombocytopenia, which is an abnormal bleeding disorder caused by a decrease in cells involved in blood clotting called platelets, and autoimmune hemolytic anemia, which results in premature destruction of red blood cells. Other autoimmune disorders such as rheumatoid arthritis can occur. Individuals with CVID also have a greater than normal risk of developing certain types of cancer, including a cancer of immune system cells called non-Hodgkin lymphoma and less frequently, stomach (gastric) cancer.People with CVID may start experiencing signs and symptoms of the disorder anytime between childhood and adulthood; most people with CVID are diagnosed in their twenties or thirties. The life expectancy of individuals with CVID varies depending on the severity and frequency of illnesses they experience. Most people with CVID live into adulthood.There are many different types of CVID that are distinguished by genetic cause. People with the same type of CVID may have varying signs and symptoms.

MalaCards based summary: Common Variable Immunodeficiency, also known as cvid, is related to immunodeficiency, common variable, 1 and immunodeficiency, common variable, 2. An important gene associated with Common Variable Immunodeficiency is TNFRSF13B (TNF Receptor Superfamily Member 13B), and among its related pathways/superpathways are ERK Signaling and MIF Mediated Glucocorticoid Regulation. The drugs Rifaximin and Budesonide have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and lung, and related phenotypes are chronic otitis media and brachycephaly

GARD: ¹⁹ Common variable immunodeficiency (CVID) is a group of disorders characterized by low levels of a type of protein known as immunoglobulins (Ig). Because of low level of Ig, the immune system cannot make antibodies that fight bacteria, viruses or other toxins in the body. This leads to frequent infections, particularly in the sinuses, lungs, and digestive tract. Symptoms most commonly begin in early adulthood but can occur at any age. While in most cases the cause of CVID is unknown, a genetic change has been found in about one-third of cases. This condition is diagnosed based on the symptoms, specific laboratory testings, and exclusion of other disorders.

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

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

Wikipedia: ⁷⁵ Common variable immunodeficiency (CVID) is an immune disorder characterized by recurrent infections and... more...

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Related Diseases for Common Variable Immunodeficiency

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

(show top 50) (show all 805)

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

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

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Symptoms & Phenotypes for Common Variable Immunodeficiency

Human phenotypes related to Common Variable Immunodeficiency:

⁵⁸ ³⁰ (show all 27)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	chronic otitis media ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000389
2	brachycephaly ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000248
3	immunodeficiency ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002721
4	lymphopenia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001888
5	pneumonia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002090
6	recurrent bronchitis ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002837
7	autoimmune thrombocytopenia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001973
8	decreased circulating antibody level ³⁰	Hallmark (90%)		HP:0004313
9	splenomegaly ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001744
10	elevated hepatic transaminase ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002910
11	bronchiectasis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002110
12	abnormality of the liver ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001392
13	hemolytic anemia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001878
14	anal atresia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002023
15	purpura ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000979
16	lymphadenopathy ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002716
17	failure to thrive in infancy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001531
18	emphysema ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002097
19	arthralgia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002829
20	lymphoma ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002665
21	vasculitis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002633
22	restrictive ventilatory defect ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002091
23	gastrointestinal stroma tumor ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0100723
24	posterior pharyngeal cleft ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0006783
25	recurrent respiratory infections ⁵⁸		Very frequent (99-80%)
26	decreased antibody level in blood ⁵⁸		Very frequent (99-80%)
27	otitis media ⁵⁸		Very frequent (99-80%)

MGI Mouse Phenotypes related to Common Variable Immunodeficiency:

⁴⁵

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

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Drugs & Therapeutics for Common Variable Immunodeficiency

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

(show top 50) (show all 89)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Rifaximin

Approved, Investigational

Phase 4

80621-81-4

46783403 6436173

Budesonide

Approved

Phase 4

51333-22-3

5281004 40000 63006

Immunoglobulin G

Phase 4

Complement System Proteins

Phase 4

Complement C1s

Phase 4

Complement C1 Inhibitor Protein

Phase 4

Complement C1 Inactivator Proteins

Phase 4

Immunoglobulins, Intravenous

Phase 4

gamma-Globulins

Phase 4

Rho(D) Immune Globulin

Phase 4

Hormones

Phase 4

Hormone Antagonists

Phase 4

Anti-Inflammatory Agents

Phase 4

glucocorticoids

Phase 4

Bronchodilator Agents

Phase 4

Anti-Asthmatic Agents

Phase 4

Respiratory System Agents

Phase 4

Immunoglobulins

Phase 3

Antibodies

Phase 3

Pharmaceutical Solutions

Phase 3

Peginterferon alfa-2a

Approved, Investigational

Phase 2

198153-51-4

Ustekinumab

Approved, Investigational

Phase 1, Phase 2

815610-63-0

Alemtuzumab

Approved, Investigational

Phase 2

216503-57-0

Mycophenolic acid

Approved, Investigational

Phase 2

24280-93-1

446541

Tacrolimus

Approved, Investigational

Phase 2

104987-11-3

6473866 445643

Benzocaine

Approved, Investigational

Phase 2

1994-09-7, 94-09-7

2337

Tannic acid

Approved

Phase 2

1401-55-4

16129878 16129778

Sirolimus

Approved, Investigational

Phase 2

53123-88-9

5284616 6436030

Pentostatin

Approved, Investigational

Phase 2

53910-25-1

439693

Coenzyme M

Approved, Investigational

Phase 2

3375-50-6

598 23662354

Melphalan

Approved

Phase 2

148-82-3

4053 460612

Abatacept

Approved

Phase 2

332348-12-6

Busulfan

Approved, Investigational

Phase 1, Phase 2

55-98-1

2478

Fludarabine

Approved

Phase 1, Phase 2

75607-67-9, 21679-14-1

30751 657237

Thiotepa

Approved, Investigational

Phase 1, Phase 2

52-24-4

5453

Fisetin

Experimental

Phase 2

528-48-3

Anti-Infective Agents

Phase 2

Antiviral Agents

Phase 2

Interferon alpha-2

Phase 2

interferons

Phase 2

Interferon-alpha

Phase 2

Dermatologic Agents

Phase 1, Phase 2

Interleukin-12

Phase 1, Phase 2

Anti-Bacterial Agents

Phase 2

Antitubercular Agents

Phase 2

Antibiotics, Antitubercular

Phase 2

Immunologic Factors

Phase 2

Immune Checkpoint Inhibitors

Phase 2

Alkylating Agents

Phase 1, Phase 2

Antineoplastic Agents, Alkylating

Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 51)

#	Name	Status	NCT ID	Phase	Drugs
1	Effects of Rifaximin, by Modulation of the Gut Microbiota, on Markers of Systemic Inflammation in Patients With Common Variable Immunodeficiency - An Exploratory Open-label Randomized Controlled Trial	Completed	NCT01946906	Phase 4	Rifaximin
2	A Multicenter Study on the Efficacy and Safety of Vivaglobin® in Previously Untreated Patients (PUPs) With Primary Immunodeficiency (PID)	Completed	NCT00520494	Phase 4	Vivaglobin
3	A Single-site, Open-Label, Pilot Study to Evaluate the Benefit of RUCONEST® in Subjects Who Experience ADRs Related to IVIG Infusions	Completed	NCT03576469	Phase 4
4	A Phase IV, Multicenter, Open-Label Study to Evaluate the Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases (PID) in Children and Adolescents	Completed	NCT01289847	Phase 4
5	A Prospective Study of the Utility of Spirometry to Identify and Manage Immunoglobulin Replacement Dosage in Primary Antibody Deficiency in Patients With Potentially Reversible Airway Disease	Not yet recruiting	NCT05193552	Phase 4	Hizentra
6	Open-label Withdrawal Trial of Budesonide in Patients With Immune Mediated Enteropathies	Terminated	NCT03866538	Phase 4	Withdrawal of Oral Budesonide
7	A Multicentre Study of the Efficacy, Tolerability, Safety, and Pharmacokinetics of Immune Globulin Subcutaneous (Human) IgPro20 in Subjects With Primary Immunodeficiency	Completed	NCT00542997	Phase 3
8	A Phase III, Multicenter, Open-label, Randomized, Two-Period, Crossover Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases	Completed	NCT01963143	Phase 3
9	A Phase III, Multicenter, Open-Label Study to Evaluate the Pharmacokinetics and Safety of Subgam-VF in Primary Immunodeficiency Diseases	Completed	NCT01884311	Phase 3
10	An Open Study to Evaluate the Safety and Efficacy of IVIG-F10 in Patients With Primary Immunodeficiency Diseases (PID)	Completed	NCT00168012	Phase 3	Immunoglobulins Intravenous (Human)
11	A Multicenter Study on the Efficacy, Safety and Pharmacokinetics of IgPro10 in Patients With Primary Immunodeficiency (PID)	Completed	NCT00168025	Phase 3	Immunoglobulins Intravenous (Human)
12	A Multicenter Extension Study on the Safety and Efficacy of IgPro10 in Patients With Primary Immunodeficiency (PID)	Completed	NCT00322556	Phase 3	Immunoglobulins Intravenous (Human)
13	IGIV-C 10% Rapid Infusion Trial in Primary Immune Deficient Patients	Completed	NCT00220766	Phase 3	Immune Globulin Intravenous [Human], 10% Caprylate/Chromatography Purified;Dextrose, 5% in Water
14	An Open-label, Non-randomized, Within-patient Dose-finding Study Followed by a Randomized, Subject, Investigator and Sponsor Blinded Placebo Controlled Study to Assess the Efficacy and Safety of CDZ173 (Leniolisib) in Patients With APDS/PASLI (Activated Phosphoinositide 3-kinase Delta Syndrome/ p110δ-activating Mutation Causing Senescent T Cells, Lymphadenopathy and Immunodeficiency)	Completed	NCT02435173	Phase 2, Phase 3	CDZ173
15	A Multi-centre Open Study to Assess the Safety and Efficacy of Subgam® Given Via the Subcutaneous Route in Primary Antibody Deficient Patients.	Completed	NCT02247141	Phase 3
16	A Phase III, Multicenter, Open-Label Study To Evaluate The Efficacy, Safety, and Pharmacokinetics of Gammaplex® in Primary Immunodeficiency Diseases	Completed	NCT00278954	Phase 3
17	Clinical and Virological Efficacy of Pegylated Interferon Alpha in the Treatment of Rhinovirus Infection in Patients With Primary Hypogammaglobulinemia: Randomized Controlled Trial	Unknown status	NCT02661477	Phase 2	pegylated interferon alfa 2
18	An Open-Label Phase I/II Pilot Study to Assess the Safety/Tolerability and Efficacy of Ustekinumab for Symptomatic Gastrointestinal Inflammation Associated With Common Variable Immunodeficiency	Completed	NCT02199496	Phase 1, Phase 2
19	A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Patients With Inborn Errors of Immunity	Recruiting	NCT04339777	Phase 2	Busulfan test dose;Fludarabine;Busulfan;Alemtuzumab;Tacrolimus (Tacro);Mycophenolate mofetil (MMF);Cyclophosphamide (Cytoxan)
20	Pilot Trial of Allogeneic Blood or Marrow Transplantation for Primary Immunodeficiencies	Recruiting	NCT02579967	Phase 2	Immunosuppression Only Conditioning -Closed with amendment L;Reduced Intensity Conditioning;Myeloablative Conditioning-Closed with amendment L;GVHD Prophylaxis
21	Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Disorders of T-cell Proliferation and/or Dysregulation	Recruiting	NCT03663933	Phase 2	Immunosuppression Only Conditioning;Reduced Intensity Conditioning;GVHD Prophylaxis
22	Abatacept for the Treatment of Common Variable Immunodeficiency With Interstitial Lung Disease	Recruiting	NCT04925375	Phase 2	Abatacept
23	A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime	Recruiting	NCT01821781	Phase 2	Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
24	PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders	Active, not recruiting	NCT03513328	Phase 1, Phase 2	Thiotepa--single daily dose;Thiotepa--escalated dose
25	Bilateral Orthotopic Lung Transplant in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant From Partially HLA-Matched Cadaveric Donors	Enrolling by invitation	NCT01852370	Phase 1, Phase 2
26	Senolytics as a Novel Treatment for Interstitial Lung Disease in Common Variable Immunodeficiency (CVID)	Not yet recruiting	NCT05593588	Phase 2	Fisetin;Placebo
27	Randomised, Multicentric, Phase ii Study of the Immunogenicity of a "Prime Boost" Vaccination Strategy Combining Conjugated Anti- Pneumococcal Vaccine (s0) and Polysaccharide Anti- Pneumococcal Vaccine (s4) Compared to Polysaccharide Anti- Pneumococcal Vaccine Alone (s4) In Patients With Common Variable Immunodeficiency	Terminated	NCT01489618	Phase 2
28	Clinical Trial to Assess the Efficacy of Rituximab and Azathioprine in the Treatment of Granulomatous and Lymphocytic Interstitial Lung Disease (GLILD) in Adult Patients With Common Variable Immunodeficiency (CVID)	Withdrawn	NCT02789397	Phase 2	Rituximab (RTX) and Azathioprine (AZA);Placebos
29	A Pilot Study of Safety and Efficacy of the Oral IL-12/23 Inhibitor, STA-5326 Mesylate, for Symptomatic Gastrointestinal Inflammation Associated With Common Variable Immunodeficiency	Completed	NCT00263237	Phase 1	STA-5326
30	Investigation of the Lymphocyte Surface Expression of Patients With Primary Immunodeficiency (Common Variable Immunodeficiency (CVID)), Compared to Controls	Unknown status	NCT01196702
31	Granulomatous-Lymphocytic Interstitial Lung Disease (GLILD) Diagnosed in Children and Young Adults With Common Variable Immunodeficiency	Unknown status	NCT03648567
32	Investigation of Molecular, Genetic and Cellular Mechanisms of Human Immune Disorders and Deficiencies	Unknown status	NCT01981785
33	Consequences of DNA Repair and Telomere Defects on the Function of the Immune System: Application to CVID and Immune Deficiencies With Dysmorphic Syndromes	Unknown status	NCT02556359
34	Serum IgG Antibody to Streptococcus Pneumoniae, Haemophilus Influenzae Type b and Tetanus Toxoid in Patients With Primary Antibody Deficiencies Treated With Subcutaneous Immunoglobulin Infusions	Completed	NCT00661401
35	Randomized Study of Polyethylene-Glycol-Conjugated Interleukin 2 in Patients With Common Variable Immunodeficiency	Completed	NCT00004695		PEG-interleukin-2
36	Retrospective Study of the Breadth of Donor Options for Patients With Inherited Diseases Requiring Allogeneic Hematopoietic Stem Cell Transplant in the Era of Alternative Donor Transplants Using Post-Transplantation Cyclophosphamide	Completed	NCT03188419
37	The Immune Basis for the Gastrointestinal Complications of Common Variable Immunodeficiency	Completed	NCT00015431
38	The Impact of Exercise on Stress, Fatigue, and Quality of Life in Individuals With Primary Immunodeficiency Disease	Completed	NCT03211689
39	Effects of Intravenous Human Polyclonal Immunoglobulins G Infusion on Endothelial Function and Insulin Sensitivity in Humans	Completed	NCT03534479		Polyclonal IgG
40	Phenotype-genotype Correlation in a Sub-population of Severe Primary Immunodeficiency With Lymphoproliferation and Neutropenia	Completed	NCT03427593
41	Construction and Validation of a Health-related Quality of Life (HR-QOL) Instrument for Patients With Primary Antibody Deficiency Disease	Completed	NCT02542228
42	Natural History of Bronchiectasis	Recruiting	NCT00943514
43	Vaccine-induced SARS-CoV-2-specific T Cell Responses in Patients With Primary Immune Deficiency Disease	Recruiting	NCT05321407
44	Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies	Recruiting	NCT01652092		Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Fludarabine phosphate 30 mg;MESNA
45	Studies of Immune Regulation in Patients With Common Variable Immunodeficiency and Related Humoral Immunodeficiency Syndromes	Recruiting	NCT00001244
46	Improving the Diagnosis of Common Variable Immune Deficiency by Analysis of Innate and Adaptive Signaling Pathways	Active, not recruiting	NCT03335605
47	Early Detection of Primary Antibody Deficiencies in Primary Care Facilities by an Algorithm Driven Selection of Serologic Testing in Individuals at Risk.	Active, not recruiting	NCT05310604
48	A Randomized Study Evaluating Set-up Reproducibility Using Cone Beam CT (CBCT) With and Without a Customized Vacuum Immobilization Device (CVID) in Rectal Cancer Patients Treated With Preoperative Pelvic Radiation Therapy	Active, not recruiting	NCT00937248
49	Composition and Function of Gut Microbiota in Porto-sinusoidal Vascular Disease Associated With Variable Common Immunodeficiency	Not yet recruiting	NCT05481554
50	Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies	Terminated	NCT00006054		anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone

Search NIH Clinical Center for Common Variable Immunodeficiency

Cell-based therapeutics:

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

Genetic tests related to Common Variable Immunodeficiency:

#	Genetic test	Affiliating Genes
1	Common Variable Agammaglobulinemia ²⁸

Sources

Anatomical Context for Common Variable Immunodeficiency

Organs/tissues related to Common Variable Immunodeficiency:

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

Sources

Publications for Common Variable Immunodeficiency

Articles related to Common Variable Immunodeficiency:

(show top 50) (show all 3709)

#	Title	Authors	PMID	Year
1	Phenotypic and clinical heterogeneity associated with monoallelic TNFRSF13B-A181E mutations in common variable immunodeficiency. ⁵³ ⁶² ⁵	Dong X...Abraham RS	20156508	2010
2	Novel mutations in TACI (TNFRSF13B) causing common variable immunodeficiency. ⁵³ ⁶² ⁵	Mohammadi J...Hammarstrom L	19629655	2009
3	TACI mutation with invasive polyclonal CD8+ T-cell lymphoproliferation in a patient with common variable immunodeficiency. ⁵³ ⁶² ⁵	Berglund LJ...Fulcher DA	16630947	2006
4	TACI is mutant in common variable immunodeficiency and IgA deficiency. ⁵³ ⁶² ⁵	Castigli E...Geha RS	16007086	2005
5	Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. ⁵³ ⁶² ⁵	Salzer U...Grimbacher B	16007087	2005
6	Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency. ⁶² ⁵	Abolhassani H...Hammarstrom L	29921932	2019
7	Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2. ⁶² ⁵	Klemann C...Grimbacher B	30941118	2019
8	CVID-Associated Tumors: Czech Nationwide Study Focused on Epidemiology, Immunology, and Genetic Background in a Cohort of Patients With CVID. ⁶² ⁵	Kralickova P...Sediva A	30723478	2018
9	Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond. ⁶² ⁵	de Valles-Ibanez G...Casals F	29867916	2018
10	Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype. ⁶² ⁵	Kuehn HS...Rosenzweig SD	28778864	2017
11	Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency. ⁶² ⁵	Maffucci P...Cunningham-Rundles C	27379089	2016
12	Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes. ⁶² ⁵	Pulvirenti F...Ferrari S	27123465	2016
13	TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development. ⁶² ⁵	Romberg N...Meffre E	26100089	2015
14	Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. ⁶² ⁵	Chen K...Voelkerding KV	24140114	2013
15	CVID-associated TACI mutations affect autoreactive B cell selection and activation. ⁶² ⁵	Romberg N...Meffre E	24051380	2013
16	TACI mutations and impaired B-cell function in subjects with CVID and healthy heterozygotes. ⁶² ⁵	Martinez-Gallo M...Cunningham-Rundles C	23237420	2013
17	Clinical variability of family members with the C104R mutation in transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI). ⁶² ⁵	Koopmans W...Ameratunga R	22983507	2013
18	Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations. ⁶² ⁵	Freiberger T...Litzman J	22884984	2012
19	A novel compound heterozygous TACI mutation in an autosomal recessive common variable immunodeficiency (CVID) family. ⁶² ⁵	Lougaris V...Plebani A	22627058	2012
20	The impact of TACI mutations: from hypogammaglobulinemia in infancy to autoimmunity in adulthood. ⁶² ⁵	Barroeta Seijas AB...Di Matteo G	22697072	2012
21	Rare mutations in TNFRSF13B increase the risk of asthma symptoms in Swedish children. ⁶² ⁵	Janzi M...Hammarstrom L	21850030	2012
22	TNFRSF13B/TACI alterations in Greek patients with antibody deficiencies. ⁶² ⁵	Speletas M...Germenis AE	21547394	2011
23	Functional analysis of transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) mutations associated with common variable immunodeficiency. ⁶² ⁵	Fried AJ...Geha RS	21419480	2011
24	The C76R transmembrane activator and calcium modulator cyclophilin ligand interactor mutation disrupts antibody production and B-cell homeostasis in heterozygous and homozygous mice. ⁶² ⁵	Bacchelli C...Gaspar HB	21458042	2011
25	The C104R mutant impairs the function of transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) through haploinsufficiency. ⁶² ⁵	Lee JJ...Geha RS	20889194	2010
26	The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function. ⁶² ⁵	Lee JJ...Geha RS	19605846	2009
27	Role of TNFRSF13B variants in patients with common variable immunodeficiency. ⁶² ⁵	Martinez-Pomar N...Matamoros N	19779048	2009
28	TACI mutations and disease susceptibility in patients with common variable immunodeficiency. ⁶² ⁵	Poodt AE...de Vries E	19210517	2009
29	Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes. ⁶² ⁵	Salzer U...Grimbacher B	18981294	2009
30	Transmembrane activator and calcium-modulator and cyclophilin ligand interactor mutations in common variable immunodeficiency. ⁶² ⁵	Lee JJ...Geha RS	18978466	2008
31	Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes. ⁶² ⁵	Zhang L...Cunningham-Rundles C	17983875	2007
32	Translational mini-review series on immunodeficiency: molecular defects in common variable immunodeficiency. ⁶² ⁵	Bacchelli C...Gaspar HB	17697196	2007
33	Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID). ⁶² ⁵	Garibyan L...Geha RS	17492055	2007
34	Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. ⁶² ⁵	Pan-Hammarstrom Q...Hammarstrom L	17392797	2007
35	Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. ⁶² ⁵	Castigli E...Geha R	17392798	2007
36	CTLA-4 gene exon-1 +49 A/G polymorphism: lack of association with autoimmune disease in patients with common variable immune deficiency. ⁶² ⁵	Knight AK...Cunningham-Rundles C	17192819	2007
37	Memory switched B cell percentage and not serum immunoglobulin concentration is associated with clinical complications in children and adults with specific antibody deficiency and common variable immunodeficiency. ⁶² ⁵	Alachkar H...Arkwright PD	16782407	2006
38	Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study. ⁵	Rojas-Restrepo J...Grimbacher B	34975878	2021
39	Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies. ⁵	Arts P...Hoischen A	31203817	2019
40	Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting. ⁵	Wright CF...Weedon MN	30665703	2019
41	Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings. ⁵	Rudilla F...Colobran R	31681265	2019
42	Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders. ⁵	Chi ZH...Zhu P	30290665	2018
43	Early-onset hypogammaglobulinemia: A survey of 44 patients. ⁵	Brignier AC...Durandy A	25959671	2015
44	Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations. ⁵	Johnston JJ...Biesecker LG	26046366	2015
45	A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation. ⁵	Clemente N...Chiocchetti A	25569260	2015
46	Antibody deficiency diseases. ⁵	Pan-Hammarstrom Q...Hammarstrom L	18200502	2008
47	Splicing in action: assessing disease causing sequence changes. ⁵	Baralle D...Baralle M	16199547	2005
48	Use of cytokine therapy in primary immunodeficiency. ⁵³ ⁶²	Roy-Ghanta S...Orange JS	19449141	2010
49	Association of IL-4 and IL-10 gene promoter polymorphisms with common variable immunodeficiency. ⁵³ ⁶²	Rezaei N...Amirzargar AA	19249119	2010
50	Selective IgA deficiency. ⁵³ ⁶²	Yel L	20101521	2010

Sources

Genes for Common Variable Immunodeficiency

Genes related to Common Variable Immunodeficiency (14 elite genes):

(show top 50) (show all 114)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TNFRSF13B	TNF Receptor Superfamily Member 13B	Protein Coding	803.95	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16007086 16007087 16199547 (more) 16630947 16782407 17192819 17392797 17392798 17492055 17983875 18981294 19210517 19605846 19629655 19779048 20156508 20889194 21419480 21458042 21547394 21850030 22884984 22983507 23237420 24051380 25569260 25959671 26046366 26100089 27123465 27379089 29867916 29921932 30665703 30723478 31203817 17697196 18200502 18978466 22627058 22697072 34975878 16899196 19392801 19494827
2	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	790.57	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	26279205
3	NFKB2	Nuclear Factor Kappa B Subunit 2	Protein Coding	765.68	Pathogenic ⁵ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	24140114 30941118 28778864 (more) 24888602 25237204
4	RAG2	Recombination Activating 2	Protein Coding	406.1	Pathogenic ⁵ DISEASES inferred ¹⁴
5	TTC7A	Tetratricopeptide Repeat Domain 7A	Protein Coding	405.74	Pathogenic ⁵ DISEASES inferred ¹⁴
6	CR2	Complement C3d Receptor 2	Protein Coding	390.62	Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	22035880
7	TNFRSF13C	TNF Receptor Superfamily Member 13C	Protein Coding	376.38	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16160919 16264328
8	ICOS	Inducible T Cell Costimulator	Protein Coding	375.17	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16757923 12577056 15963052
9	CD19	CD19 Molecule	Protein Coding	375.14	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
10	IRF2BP2	Interferon Regulatory Factor 2 Binding Protein 2	Protein Coding	364.5	Causative germline mutation (gain of function) ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	27016798
11	MS4A1	Membrane Spanning 4-Domains A1	Protein Coding	363.33	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	20038800 21970952
12	CD81	CD81 Molecule	Protein Coding	356.66	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	21970952
13	PRKCD	Protein Kinase C Delta	Protein Coding	355.53	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	23319571
14	TNFSF12	TNF Superfamily Member 12	Protein Coding	355.49	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	23493554
15	LRBA	LPS Responsive Beige-Like Anchor Protein	Protein Coding	26.22	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
16	SH2D1A	SH2 Domain Containing 1A	Protein Coding	24.55	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15320910 18223336 18051214 (more) 12894850
17	BTK	Bruton Tyrosine Kinase	Protein Coding	24.52	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10844531 11472409 17024564 (more) 18051214 11434883
18	CD40LG	CD40 Ligand	Protein Coding	24.34	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11096255 7524537 16641210 (more) 2165880 8306494 19805964 19196447 11533080 15963052 1544230 11891803
19	TNFSF13B	TNF Superfamily Member 13b	Protein Coding	24.34	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	14597212 17689597 18051214 (more) 17556024
20	IL2	Interleukin 2	Protein Coding	23.58	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8318811 7981881 1283307 (more) 12877452 1638764 2165880 7584674 8167723 7774050 11465947 9367398 8809143 7586680 7532462 19449141 7901231 8167730 11811936 1280540 8566072 1606751 7520376 8167712
21	CD27	CD27 Molecule	Protein Coding	22.8	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16413828
22	CD79A	CD79a Molecule	Protein Coding	22.18	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8939274 10757854 19020530 (more) 1438261 11096255 17362578 19196447 7585984 9649200 20101521 17256402 11891803 11060491 15963052 9000499 8579003 11520416 19805964 17024564 11422405 2397611
23	IL4	Interleukin 4	Protein Coding	22.05	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	2119918 7906214 7894390 (more) 18686101 19249119 7515920 15981093 7586680 9042433
24	IL10	Interleukin 10	Protein Coding	21.29	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9246212 12759461 9557163 (more) 7901653 7933621 9042433 7515919 8103865 19249119
25	CD40	CD40 Molecule	Protein Coding	21.11	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16641210 7508119
26	CD28	CD28 Molecule	Protein Coding	21.08	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10844530
27	VPREB1	V-Set Pre-B Cell Surrogate Light Chain 1	Protein Coding	20.33	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8031574 7710759
28	MBL2	Mannose Binding Lectin 2	Protein Coding	18.88	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16297171 10652157 19408100 (more) 12887301
29	AICDA	Activation Induced Cytidine Deaminase	Protein Coding	18.85	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11112359 15963052
30	SELL	Selectin L	Protein Coding	17.77	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8625520
31	IL2RA	Interleukin 2 Receptor Subunit Alpha	Protein Coding	17.75	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	1934593
32	CD86	CD86 Molecule	Protein Coding	17.42	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10760795
33	CTLA4	Cytotoxic T-Lymphocyte Associated Protein 4	Protein Coding	15.87	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
34	IL2RB	Interleukin 2 Receptor Subunit Beta	Protein Coding	15.58	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9462277 1934593
35	TNF	Tumor Necrosis Factor	Protein Coding	15.08	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
36	MSH5	MutS Homolog 5	Protein Coding	15	DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)
37	LCK	LCK Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	14.91	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11351273
38	RAG1	Recombination Activating 1	Protein Coding	14.89	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
39	TLR9	Toll Like Receptor 9	Protein Coding	14.77	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
40	TNFSF13	TNF Superfamily Member 13	Protein Coding	14.51	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
41	FOXP3	Forkhead Box P3	Protein Coding	14.51	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
42	IL6	Interleukin 6	Protein Coding	14.5	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
43	CD38	CD38 Molecule	Protein Coding	14.4	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
44	IFNG	Interferon Gamma	Protein Coding	14.3	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
45	CCR7	C-C Motif Chemokine Receptor 7	Protein Coding	14.15	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
46	IL21	Interleukin 21	Protein Coding	14.14	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
47	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	14.08	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
48	CD69	CD69 Molecule	Protein Coding	13.98	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
49	CD70	CD70 Molecule	Protein Coding	13.95	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
50	TNFRSF17	TNF Receptor Superfamily Member 17	Protein Coding	13.92	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)

Sources

Variations for Common Variable Immunodeficiency

ClinVar genetic disease variations for Common Variable Immunodeficiency:

⁵ (show top 50) (show all 355)

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

Sources

Expression for Common Variable Immunodeficiency

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

Sources

Pathways for Common Variable Immunodeficiency

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

(show all 45)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.76	TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B PRKCD NFKB1
2	MIF Mediated Glucocorticoid Regulation ⁶⁴ Show member pathways all-trans-Retinoic Acid Signaling in Brain ⁶⁴ Endothelin-1 Signaling Pathway ⁶⁴ Glucocorticoid Receptor Signaling ⁶⁴ IL-6 Pathway ⁶⁴ MIF Regulation of Innate Immune Cells ⁶⁴ NFAT Signaling and Lymphocyte Interactions ⁶⁴ Overview of proinflammatory and profibrotic mediators ⁷⁴ PEDF Induced Signaling ⁶⁴ PGC1Alpha Pathway ⁶⁴ RAR-Gamma-RXR-Alpha Degradation ⁶⁴ STAT3 Pathway ⁶⁴	13.54	TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B PRKCD NFKB1
3	Class I MHC mediated antigen processing and presentation ⁶⁶ Show member pathways Adaptive Immune System ⁶⁶ Antigen processing: Ubiquitination and Proteasome degradation ⁶⁶ Neddylation ⁶⁶	13.46	SH2D1A NFKB1 ICOS CD81 CD40LG CD19
4	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.41	TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B SH2D1A RAG2
5	Prolactin Signaling ⁶⁴ Show member pathways Development Prolactin receptor signaling ²² EGFR Inhibitor Pathway, Pharmacodynamics ⁶⁰ EGFR tyrosine kinase inhibitor resistance ⁷⁴ ErbB Family Pathway ⁶⁴ ErbB signaling pathway ⁷⁴ ErbB2-ErbB3 Heterodimers ⁶⁴ ErbB4 Pathway ⁶⁴ Estrogen-stimulated signaling through PRKCZ ⁶⁶ Glioblastoma Multiforme ⁶⁴ Glioblastoma signaling pathways ⁷⁴ Growth Hormone Signaling ⁶⁴ HMGB1 Pathway ⁶⁴ IL-2 Pathway ⁶⁴ LPS Stimulated MAPK Signaling ⁶⁴ PACAP Signaling ⁶⁴ PI3K Signaling in B-Lymphocyte ⁶⁴ TCA cycle nutrient use and invasiveness of ovarian cancer ⁷⁴ Thrombopoietin Pathway ⁶⁴ TREM1 Pathway ⁶⁴ UVA-Induced MAPK Signaling ⁶⁴ UVB-Induced MAPK Signaling ⁶⁴ UVC-Induced MAPK Signaling ⁶⁴	13.39	PRKCD NFKB2 NFKB1 IL2 CR2 CD81
6	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.32	TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B PRKCD NFKB1
7	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.2	TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B PRKCD NFKB1
8	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	13.15	TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B RAG2 PRKCD
9	NF-KappaB Family Pathway ⁶⁴ Show member pathways NF-KappaB (p50-p65) Pathway ⁶⁴	12.62	TNFSF13B TNFRSF13C PRKCD NFKB2 NFKB1 IL2
10	4-1BB Pathway ⁶⁴ Show member pathways CD27 Pathway ⁶⁴ CD40 Signaling ⁶⁴ CMV and MAPK Pathways ⁶⁴ NF-KappaB Activation by EBV ⁶⁴ NF-kappaB Activation by Viruses ⁶⁴ PKR Pathway ⁶⁴ SUMO Pathway ⁶⁴ TNFR2 Pathway ⁶⁴	12.59	PRKCD NFKB1 CR2 CD40LG
11	IL-1 Family Signaling Pathways ⁶⁵ Show member pathways IL1 signaling pathway ⁶⁷ Immune response IL-1 signaling pathway ²² Interleukin-1 (IL-1) structural pathway ⁷⁴ Interleukin-33 signaling ⁶⁶ Interleukin-36 pathway ⁶⁶ Mucin expression in CF via TLRs, EGFR signaling pathways ²² Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁵	12.55	PRKCD NFKB2 NFKB1 BTK
12	Immune response NFAT in immune response ²² Show member pathways Immune response CD28 signaling ²² Immune response ICOS pathway in T-helper cell ²² Immune response T cell receptor signaling pathway ²²	12.53	NFKB2 NFKB1 ICOS BTK
13	TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions ⁶⁵ Show member pathways 14-3-3 Induced Apoptosis ⁶⁴ TNF Superfamily Pathway ⁶⁴ TNFs bind their physiological receptors ⁶⁶ TRAF Pathway ⁶⁴	12.52	TNFSF13B TNFSF12 TNFRSF13C TNFRSF13B PRKCD NFKB1
14	NF-kappaB Pathway ⁷⁰ Show member pathways Akt Pathway ⁷⁰ Apoptosis Pathway ⁷⁰	12.37	PRKCD NFKB2 NFKB1 IL2
15	Development A3 receptor signaling ²² Show member pathways Development A1 receptor signaling ²² G-protein signaling G-Protein alpha-q signaling cascades ²²	12.26	PRKCD NFKB2 NFKB1 BTK
16	B Cell Receptor Signaling Pathway ⁶⁷ Show member pathways T Cell Receptor Signaling Pathway ⁶⁷	12.24	PRKCD NFKB1 CD19 BTK
17	Immune response Fc epsilon RI pathway ²² Show member pathways Fc-epsilon receptor I signaling in mast cells ⁶¹ Immune response BCR pathway ²²	12.21	BTK CD19 CD81 CR2 NFKB1 NFKB2
18	CD28 Signaling in T-Helper Cell ⁶⁴ Show member pathways ICos-ICosL Pathway in T-Helper Cell ⁶⁴	12.18	CD40LG ICOS IL2 NFKB1
19	BAFF in B-Cell Signaling ⁶⁴ Show member pathways Apoptosis and survival APRIL and BAFF signaling ²² APRIL Pathway ⁶⁴ RANK Pathway ⁶⁴ RANK Signaling in Osteoclasts ⁶⁴	12.09	TNFSF13B TNFRSF13C TNFRSF13B NFKB2 NFKB1 CR2
20	T-cell activation SARS-CoV-2 ⁷⁴ Show member pathways T-cell antigen receptor (TCR) pathway during Staphylococcus aureus infection ⁷⁴	12.07	NFKB1 IL2 ICOS CD40LG
21	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁶	12	CD19 CD40LG CD81 SH2D1A
22	MAPK Pathway ⁷⁰ Show member pathways Toll-like Receptor Pathway ⁷⁰	11.94	NFKB2 NFKB1 IL2
23	Hematopoietic Stem Cells and Lineage-specific Markers ⁶⁵	11.92	MS4A1 IL2 CD19
24	Gastrin signaling pathway ⁷⁴	11.9	PRKCD NFKB1 IL2
25	IL12-mediated signaling events ⁶¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²²	11.9	IL2 NFKB1 NFKB2
26	NF-kappaB Signaling ³	11.84	TNFSF13B TNFSF12 SH2D1A NFKB2 NFKB1 IL2
27	Corticotropin-releasing hormone signaling pathway ⁷⁴	11.8	PRKCD NFKB1 IL2
28	LT-BetaR Pathway ⁶⁴ Show member pathways Apoptosis and survival Lymphotoxin-beta receptor signaling ²²	11.75	NFKB2 NFKB1 IL2
29	Acute viral myocarditis ⁷⁴	11.7	NFKB2 IL2 CD40LG
30	Dendritic Cells Developmental Lineage Pathway ⁶⁵	11.69	CD19 IL2 MS4A1
31	BCR signaling pathway ⁶¹	11.61	NFKB1 CD19 BTK
32	Photodynamic therapy-induced NF-kB survival signaling ⁷⁴ Show member pathways Immune response MIF-mediated glucocorticoid regulation ²²	11.61	NFKB2 NFKB1 IL2 CD40LG
33	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway ²² Show member pathways Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway ²²	11.6	TNFSF13B TNFSF12 TNFRSF13B NFKB2 NFKB1 CD40LG
34	IL 10 signaling pathway ⁶⁷	11.58	TNFSF13B NFKB1 CD40LG
35	Non-genomic actions of 1,25 dihydroxyvitamin D3 ⁷⁴	11.5	CD40LG NFKB1 NFKB2 PRKCD
36	Transcriptional Regulatory Network in Embryonic Stem Cell ⁶⁴	11.49	PRKCD NFKB2 NFKB1
37	Extrafollicular B cell activation by SARS-CoV-2 ⁷⁴	11.48	CD19 CD40LG CR2 ICOS IL2 MS4A1
38	THC Differentiation Pathway ⁶⁴	11.46	NFKB2 NFKB1 IL2 CD40LG
39	Tacrolimus/Cyclosporine Pathway, Pharmacodynamics ⁶⁰	11.41	NFKB2 NFKB1 IL2
40	16p11.2 distal deletion syndrome ⁷⁴	11.2	CR2 CD81 CD19
41	Telomere Extension by Telomerase ⁶⁴ Show member pathways XAV939 stabilizes AXIN ⁶⁶	11.16	NFKB2 NFKB1 IL2
42	G-protein signaling_Rap2B regulation pathway ²²	10.93	TNFSF13B TNFSF12 NFKB1 IL2 CD40LG BTK
43	Folate metabolism ⁷⁴	10.7	NFKB2 NFKB1
44	Inclusion body myositis ⁷⁴	10.65	NFKB2 NFKB1
45	Vitamin B12 metabolism ⁷⁴	10.59	NFKB1 NFKB2

Sources

GO Terms for Common Variable Immunodeficiency

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

#	Name	GO ID	Score	Top Affiliating Genes
1	NF-kappaB complex	GO:0071159	8.92	NFKB2 NFKB1

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

(show all 13)

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