Common Variable Immunodeficiency

Common Name(s)

Common Variable Immunodeficiency

Common variable immunodeficiency (CVID) is a group of disorders in which the immune system cannot make antibodies in response to foreign substances that cause infection. The main feature that separates CVID from other immunodeficiencies is low levels of two specific antibodies, immunoglobulin A (IgA) and immunoglobulin G (IgG). People with CVID get more frequent infections, particularly in the sinuses, lungs, and digestive tract. Symptoms most commonly begin in early adulthood, but have been found in children as young as age two. While in most cases the cause of CVID is unknown, the condition has been associated with mutations in at least 10 genes. About 10% of affected people have mutations in the TNFRSF13B gene. The main treatment for CVID is Ig replacement therapy, which stops the cycle of recurrent infections.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Common Variable Immunodeficiency" for support, advocacy or research.

Immune Deficiency Foundation

The Immune Deficiency Foundation is the national patient organization dedicated to improving the diagnosis, treatment and quality of life of persons with primary immunodeficiency diseases through advocacy, education and research.

Last Updated: 27 Aug 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Common Variable Immunodeficiency" for support, advocacy or research.

Immune Deficiency Foundation

The Immune Deficiency Foundation is the national patient organization dedicated to improving the diagnosis, treatment and quality of life of persons with primary immunodeficiency diseases through advocacy, education and research.

http://www.primaryimmune.org

Last Updated: 27 Aug 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Common Variable Immunodeficiency" returned 362 free, full-text research articles on human participants. First 3 results:

TLR9 stimulation of B-cells induces transcription of p53 and prevents spontaneous and irradiation-induced cell death independent of DNA damage responses. Implications for Common variable immunodeficiency.
 

Author(s): Kristine Lillebø Holm, Randi Gussgard Syljuåsen, Grete Hasvold, Lene Alsøe, Hilde Nilsen, Kristina Ivanauskiene, Philippe Collas, Sergey Shaposhnikov, Andrew Collins, Randi Larsen Indrevær, Pål Aukrust, Børre Fevang, Heidi Kiil Blomhoff

Journal:

 

In the present study, we address the important issue of whether B-cells protected from irradiation-induced cell death, may survive with elevated levels of DNA damage. If so, such cells would be at higher risk of gaining mutations and undergoing malignant transformation. We show that ...

Last Updated: 3 Oct 2017

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A case report of lymphoid intestitial pneumonia in common variable immunodeficiency: Oligoclonal expansion of effector lymphocytes with preferential cytomegalovirus-specific immune response and lymphoproliferative disease promotion.
 

Author(s): Przemyslaw Zdziarski, Andrzej Gamian, Grzegorz Dworacki

Journal: Medicine (Baltimore). 2017 Jun;96(23):e7031.

 

Lymphoid interstitial pneumonia (LIP) is a rare disease with lymphocytic infiltration of the alveolar interstitial and air spaces, sometimes classified as a clonal lymphoproliferative disease (LPD) with high prevalence in patients with immunodysregulation. Although association of ...

Last Updated: 7 Jun 2017

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Vaccine Associated Paralytic Poliomyelitis Unmasking Common Variable Immunodeficiency.
 

Author(s): Sunil Gomber, Vanny Arora, Pooja Dewan

Journal: Indian Pediatr. 2017 Mar;54(3):241-242.

 

Oral polio vaccine can rarely lead to Vaccine-associated paralytic poliomyelitis (VAPP).

Last Updated: 31 Mar 2017

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Common Variable Immunodeficiency" returned 28 free, full-text review articles on human participants. First 3 results:

NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature.
 

Author(s): Chuan Shi, Fen Wang, Anli Tong, Xiao-Qian Zhang, Hong-Mei Song, Zheng-Yin Liu, Wei Lyu, Yue-Hua Liu, Wei-Bo Xia

Journal: Medicine (Baltimore). 2016 Oct;95(40):e5081.

 

Common variable immunodeficiency (CVID) with central adrenal insufficiency is a recently defined clinical syndrome caused by mutations in the nuclear factor kappa-B subunit 2 (NFKB2) gene. We present the first case of NFKB2 mutation in Asian population.

Last Updated: 17 Oct 2016

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T-Cell Abnormalities in Common Variable Immunodeficiency.
 

Author(s): G Azizi, N Rezaei, F Kiaee, N Tavakolinia, R Yazdani, A Mirshafiey, A Aghamohammadi

Journal: J Investig Allergol Clin Immunol. 2016 ;26(4):233-43.

 

Common variable immunodeficiency (CVID) is the most common clinical primary immunodeficiency. It is characterized by a defect in B-cell differentiation to plasma and memory B cells. Moreover, numerous T-cell abnormalities have been reported and include decreased T-cell count and proliferative ...

Last Updated: 1 Aug 2016

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T-cell abnormalities in common variable immunodeficiency: the hidden defect.
 

Author(s): Gabriel K Wong, Aarnoud P Huissoon

Journal: J. Clin. Pathol.. 2016 Aug;69(8):672-6.

 

This review discusses how the T-cell compartment in common variable immunodeficiency is marked by the premature arrest in thymic output, leading to T-cell exhaustion and immune dysregulation. Although B cells have been the main focus of the disorder, ample experimental data suggest ...

Last Updated: 21 Jul 2016

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Improving the Diagnosis of Common Variable Immune Deficiency
 

Status: Recruiting

Condition Summary: CVI - Common Variable Immunodeficiency

 

Last Updated: 3 Nov 2017

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Improving the Diagnosis of Common Variable Immune Deficiency
 

Status: Not yet recruiting

Condition Summary: Common Variable Immune Deficiency (CVID)

 

Last Updated: 10 Feb 2016

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Last Updated: 7 Nov 2017

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