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Common variable immunodeficiency(CVID)

MedGen UID:
40407
•Concept ID:
C0009447
•
Disease or Syndrome
Synonyms: Common variable agammaglobulinemia; Common variable hypogamma-globulinemia; CVID
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
not inherited
MedGen UID:
832438
•Concept ID:
CN227390
•
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
SNOMED CT: Common variable agammaglobulinemia (23238000); CVAG (23238000); Common variable immunodeficiency (23238000); CVI - Common variable immunodeficiency (23238000); Late onset immunoglobulin deficiency (23238000); CVID - Common variable immunodeficiency (23238000); Common variable hypogammaglobulinemia (23238000)
 
OMIM®: 607594
Orphanet: ORPHA1572

Definition

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 purpura, which is an abnormal bleeding disorder caused by a decrease in cell fragments 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.
[from GHR]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCommon variable immunodeficiency
Follow this link to review classifications for Common variable immunodeficiency in Orphanet.

Recent clinical studies

Etiology

Rheumatologic complications in a cohort of 227 patients with common variable immunodeficiency.
Azizi G, Kiaee F, Hedayat E, Yazdani R, Dolatshahi E, Alinia T, Sharifi L, Mohammadi H, Kavosi H, Jadidi-Niaragh F, Ziaee V, Abolhassani H, Aghamohammadi A
Scand J Immunol 2018 May;87(5):e12663. doi: 10.1111/sji.12663. PMID: 29574865
Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome.
Guffroy A, Mourot-Cottet R, Gérard L, Gies V, Lagresle C, Pouliet A, Nitschké P, Hanein S, Bienvenu B, Chanet V, Donadieu J, Gardembas M, Karmochkine M, Nove-Josserand R, Martin T, Poindron V, Soulas-Sprauel P, Rieux-Laucat F, Fieschi C, Oksenhendler E, André-Schmutz I, Korganow AS; DEFI study group.
J Clin Immunol 2017 Oct;37(7):715-726. Epub 2017 Aug 26 doi: 10.1007/s10875-017-0434-2. PMID: 28842786
Common Variable Immunodeficiency Caused by FANC Mutations.
Sekinaka Y, Mitsuiki N, Imai K, Yabe M, Yabe H, Mitsui-Sekinaka K, Honma K, Takagi M, Arai A, Yoshida K, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Muramatsu H, Kojima S, Hira A, Takata M, Ohara O, Ogawa S, Morio T, Nonoyama S
J Clin Immunol 2017 Jul;37(5):434-444. Epub 2017 May 11 doi: 10.1007/s10875-017-0396-4. PMID: 28493158
Early onset steroid induced posterior subcapsular cataract in a patient with common variable immunodeficiency: case reports and review of literature.
Marefat H, Abolhassani H, Ghareje Daghi M, Azizi G, Aghamohammadi A
Eur Ann Allergy Clin Immunol 2016 Sep;48(5):197-201. PMID: 27608477
Progression of Common Variable Immunodeficiency Interstitial Lung Disease Accompanies Distinct Pulmonary and Laboratory Findings.
Maglione PJ, Overbey JR, Cunningham-Rundles C
J Allergy Clin Immunol Pract 2015 Nov-Dec;3(6):941-50. Epub 2015 Sep 12 doi: 10.1016/j.jaip.2015.07.004. PMID: 26372540Free PMC Article

Diagnosis

Rheumatologic complications in a cohort of 227 patients with common variable immunodeficiency.
Azizi G, Kiaee F, Hedayat E, Yazdani R, Dolatshahi E, Alinia T, Sharifi L, Mohammadi H, Kavosi H, Jadidi-Niaragh F, Ziaee V, Abolhassani H, Aghamohammadi A
Scand J Immunol 2018 May;87(5):e12663. doi: 10.1111/sji.12663. PMID: 29574865
Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome.
Guffroy A, Mourot-Cottet R, Gérard L, Gies V, Lagresle C, Pouliet A, Nitschké P, Hanein S, Bienvenu B, Chanet V, Donadieu J, Gardembas M, Karmochkine M, Nove-Josserand R, Martin T, Poindron V, Soulas-Sprauel P, Rieux-Laucat F, Fieschi C, Oksenhendler E, André-Schmutz I, Korganow AS; DEFI study group.
J Clin Immunol 2017 Oct;37(7):715-726. Epub 2017 Aug 26 doi: 10.1007/s10875-017-0434-2. PMID: 28842786
Common Variable Immunodeficiency Caused by FANC Mutations.
Sekinaka Y, Mitsuiki N, Imai K, Yabe M, Yabe H, Mitsui-Sekinaka K, Honma K, Takagi M, Arai A, Yoshida K, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Muramatsu H, Kojima S, Hira A, Takata M, Ohara O, Ogawa S, Morio T, Nonoyama S
J Clin Immunol 2017 Jul;37(5):434-444. Epub 2017 May 11 doi: 10.1007/s10875-017-0396-4. PMID: 28493158
British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders.
Hurst JR, Verma N, Lowe D, Baxendale HE, Jolles S, Kelleher P, Longhurst HJ, Patel SY, Renzoni EA, Sander CR, Avery GR, Babar JL, Buckland MS, Burns S, Egner W, Gompels MM, Gordins P, Haddock JA, Hart SP, Hayman GR, Herriot R, Hoyles RK, Huissoon AP, Jacob J, Nicholson AG, Rassl DM, Sargur RB, Savic S, Seneviratne SL, Sheaff M, Vaitla PM, Walters GI, Whitehouse JL, Wright PA, Condliffe AM
J Allergy Clin Immunol Pract 2017 Jul - Aug;5(4):938-945. Epub 2017 Mar 25 doi: 10.1016/j.jaip.2017.01.021. PMID: 28351785
Early onset steroid induced posterior subcapsular cataract in a patient with common variable immunodeficiency: case reports and review of literature.
Marefat H, Abolhassani H, Ghareje Daghi M, Azizi G, Aghamohammadi A
Eur Ann Allergy Clin Immunol 2016 Sep;48(5):197-201. PMID: 27608477

Therapy

Intravenous Immunoglobulin Monotherapy for Granulomatous Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency.
Hasegawa M, Sakai F, Okabayashi A, Sato A, Yokohori N, Katsura H, Asano C, Kamata T, Koh E, Sekine Y, Hiroshima K, Ogura T, Takemura T
Intern Med 2017 Nov 1;56(21):2899-2902. Epub 2017 Sep 15 doi: 10.2169/internalmedicine.7757-16. PMID: 28924106Free PMC Article
Novel variant of common variable immunodeficiency.
Conaway E
BMJ Case Rep 2017 May 27;2017 doi: 10.1136/bcr-2017-219655. PMID: 28551598
Abnormality of regulatory T cells in common variable immunodeficiency.
Azizi G, Hafezi N, Mohammadi H, Yazdani R, Alinia T, Tavakol M, Aghamohammadi A, Mirshafiey A
Cell Immunol 2017 May;315:11-17. Epub 2016 Dec 29 doi: 10.1016/j.cellimm.2016.12.007. PMID: 28284485
Early onset steroid induced posterior subcapsular cataract in a patient with common variable immunodeficiency: case reports and review of literature.
Marefat H, Abolhassani H, Ghareje Daghi M, Azizi G, Aghamohammadi A
Eur Ann Allergy Clin Immunol 2016 Sep;48(5):197-201. PMID: 27608477
Adult Common Variable Immunodeficiency.
Dong J, Liang H, Wen D, Wang J
Am J Med Sci 2016 Mar;351(3):239-43. doi: 10.1016/j.amjms.2015.12.010. PMID: 26992251

Prognosis

Clonal Lymphoproliferations in a Patient With Common Variable Immunodeficiency.
Williams SA, Moench LE, Khan F, Vercellotti G, Linden MA
Lab Med 2016 Nov;47(4):318-325. Epub 2016 Sep 10 doi: 10.1093/labmed/lmw035. PMID: 27614471
Early onset steroid induced posterior subcapsular cataract in a patient with common variable immunodeficiency: case reports and review of literature.
Marefat H, Abolhassani H, Ghareje Daghi M, Azizi G, Aghamohammadi A
Eur Ann Allergy Clin Immunol 2016 Sep;48(5):197-201. PMID: 27608477
Granulomatous and lymphocytic interstitial lung disease: a spectrum of pulmonary histopathologic lesions in common variable immunodeficiency--histologic and immunohistochemical analyses of 16 cases.
Rao N, Mackinnon AC, Routes JM
Hum Pathol 2015 Sep;46(9):1306-14. Epub 2015 Jun 1 doi: 10.1016/j.humpath.2015.05.011. PMID: 26138782Free PMC Article
Disseminated bronchiectasis in an adult with common variable immunodeficiency.
Zea-Vera AF, Agudelo-Rojas OL
Colomb Med (Cali) 2015 Jan-Mar;46(1):47-50. Epub 2015 Mar 30 PMID: 26019385Free PMC Article
Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency.
Wehr C, Gennery AR, Lindemans C, Schulz A, Hoenig M, Marks R, Recher M, Gruhn B, Holbro A, Heijnen I, Meyer D, Grigoleit G, Einsele H, Baumann U, Witte T, Sykora KW, Goldacker S, Regairaz L, Aksoylar S, Ardeniz Ö, Zecca M, Zdziarski P, Meyts I, Matthes-Martin S, Imai K, Kamae C, Fielding A, Seneviratne S, Mahlaoui N, Slatter MA, Güngör T, Arkwright PD, van Montfrans J, Sullivan KE, Grimbacher B, Cant A, Peter HH, Finke J, Gaspar HB, Warnatz K, Rizzi M; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiency.
J Allergy Clin Immunol 2015 Apr;135(4):988-97.e6. Epub 2015 Jan 14 doi: 10.1016/j.jaci.2014.11.029. PMID: 25595268

Clinical prediction guides

Health-Related Quality of Life in Adult Patients with Common Variable Immunodeficiency Disorders and Impact of Treatment.
Rider NL, Kutac C, Hajjar J, Scalchunes C, Seeborg FO, Boyle M, Orange JS
J Clin Immunol 2017 Jul;37(5):461-475. Epub 2017 May 23 doi: 10.1007/s10875-017-0404-8. PMID: 28536745Free PMC Article
British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders.
Hurst JR, Verma N, Lowe D, Baxendale HE, Jolles S, Kelleher P, Longhurst HJ, Patel SY, Renzoni EA, Sander CR, Avery GR, Babar JL, Buckland MS, Burns S, Egner W, Gompels MM, Gordins P, Haddock JA, Hart SP, Hayman GR, Herriot R, Hoyles RK, Huissoon AP, Jacob J, Nicholson AG, Rassl DM, Sargur RB, Savic S, Seneviratne SL, Sheaff M, Vaitla PM, Walters GI, Whitehouse JL, Wright PA, Condliffe AM
J Allergy Clin Immunol Pract 2017 Jul - Aug;5(4):938-945. Epub 2017 Mar 25 doi: 10.1016/j.jaip.2017.01.021. PMID: 28351785
Abnormality of regulatory T cells in common variable immunodeficiency.
Azizi G, Hafezi N, Mohammadi H, Yazdani R, Alinia T, Tavakol M, Aghamohammadi A, Mirshafiey A
Cell Immunol 2017 May;315:11-17. Epub 2016 Dec 29 doi: 10.1016/j.cellimm.2016.12.007. PMID: 28284485
Comparison of various classifications for patients with common variable immunodeficiency (CVID) using measurement of B-cell subsets.
Yazdani R, Seify R, Ganjalikhani-Hakemi M, Abolhassani H, Eskandari N, Golsaz-Shirazi F, Ansaripour B, Salehi E, Azizi G, Rezaei N, Aghamohammadi A
Allergol Immunopathol (Madr) 2017 Mar - Apr;45(2):183-192. Epub 2016 Oct 4 doi: 10.1016/j.aller.2016.07.001. PMID: 27717724
Impaired selective cytokine production by CD4(+) T cells in Common Variable Immunodeficiency associated with the absence of memory B cells.
Berrón-Ruiz L, López-Herrera G, Vargas-Hernández A, Santos-Argumedo L, López-Macías C, Isibasi A, Segura-Méndez NH, Bonifaz L
Clin Immunol 2016 May;166-167:19-26. Epub 2016 Apr 4 doi: 10.1016/j.clim.2016.03.013. PMID: 27057998

Recent systematic reviews

International Consensus Document (ICON): Common Variable Immunodeficiency Disorders.
Bonilla FA, Barlan I, Chapel H, Costa-Carvalho BT, Cunningham-Rundles C, de la Morena MT, Espinosa-Rosales FJ, Hammarström L, Nonoyama S, Quinti I, Routes JM, Tang ML, Warnatz K
J Allergy Clin Immunol Pract 2016 Jan-Feb;4(1):38-59. Epub 2015 Nov 7 doi: 10.1016/j.jaip.2015.07.025. PMID: 26563668Free PMC Article
Novel NLRP12 mutations associated with intestinal amyloidosis in a patient diagnosed with common variable immunodeficiency.
Borte S, Celiksoy MH, Menzel V, Ozkaya O, Ozen FZ, Hammarström L, Yildiran A
Clin Immunol 2014 Oct;154(2):105-11. Epub 2014 Jul 23 doi: 10.1016/j.clim.2014.07.003. PMID: 25064839
Common variable immunodeficiency: an update.
Salzer U, Warnatz K, Peter HH
Arthritis Res Ther 2012 Sep 24;14(5):223. doi: 10.1186/ar4032. PMID: 23043756Free PMC Article
Common variable immunodeficiency at the end of a prospering decade: towards novel gene defects and beyond.
Eibel H, Salzer U, Warnatz K
Curr Opin Allergy Clin Immunol 2010 Dec;10(6):526-33. doi: 10.1097/ACI.0b013e32833fea1c. PMID: 20864887
Pulmonary complications of common variable immunodeficiency.
Busse PJ, Farzan S, Cunningham-Rundles C
Ann Allergy Asthma Immunol 2007 Jan;98(1):1-8; quiz 8-11, 43. doi: 10.1016/S1081-1206(10)60853-8. PMID: 17225714

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