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Immunodeficiency, common variable, 5(CVID5)

MedGen UID:
462090
•Concept ID:
C3150740
•
Disease or Syndrome
Synonym: ANTIBODY DEFICIENCY DUE TO CD20 DEFECT
 
Gene (location): MS4A1 (11q12.2)
 
Monarch Initiative: MONDO:0013285
OMIM®: 613495

Definition

Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene. [from MONDO]

Clinical features

From HPO
Recurrent respiratory infections
MedGen UID:
812812
•Concept ID:
C3806482
•
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
See: Feature record | Search on this feature
Antinuclear antibody positivity
MedGen UID:
101792
•Concept ID:
C0151480
•
Laboratory or Test Result
The presence of autoantibodies in the serum that react against nuclei or nuclear components.
See: Search on this feature
Recurrent bacterial infections
MedGen UID:
334943
•Concept ID:
C1844383
•
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
See: Feature record | Search on this feature
Combined immunodeficiency
MedGen UID:
751396
•Concept ID:
C2711630
•
Disease or Syndrome
A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.
See: Feature record | Search on this feature
Abnormal T cell count
MedGen UID:
866762
•Concept ID:
C4021113
•
Finding
A deviation from the normal count of T cells.
See: Feature record | Search on this feature
Abnormal B cell count
MedGen UID:
866853
•Concept ID:
C4021208
•
Finding
A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.
See: Feature record | Search on this feature
Chronic decreased circulating total IgG
MedGen UID:
1685230
•Concept ID:
C5139153
•
Finding
A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

AGA Clinical Practice Update on Management of Refractory Celiac Disease: Expert Review.
Green PHR, Paski S, Ko CW, Rubio-Tapia A
Gastroenterology 2022 Nov;163(5):1461-1469. Epub 2022 Sep 19 doi: 10.1053/j.gastro.2022.07.086. PMID: 36137844
Practical guidance for the diagnosis and management of secondary hypogammaglobulinemia: A Work Group Report of the AAAAI Primary Immunodeficiency and Altered Immune Response Committees.
Otani IM, Lehman HK, Jongco AM, Tsao LR, Azar AE, Tarrant TK, Engel E, Walter JE, Truong TQ, Khan DA, Ballow M, Cunningham-Rundles C, Lu H, Kwan M, Barmettler S
J Allergy Clin Immunol 2022 May;149(5):1525-1560. Epub 2022 Feb 14 doi: 10.1016/j.jaci.2022.01.025. PMID: 35176351
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

Recent clinical studies

Etiology

Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.
Chen X, Harting J, Farrow E, Thiffault I, Kasperaviciute D; Genomics England Research Consortium, Hoischen A, Gilissen C, Pastinen T, Eberle MA
Am J Hum Genet 2023 Feb 2;110(2):240-250. Epub 2023 Jan 19 doi: 10.1016/j.ajhg.2023.01.001. PMID: 36669496Free PMC Article
Practical guidance for the diagnosis and management of secondary hypogammaglobulinemia: A Work Group Report of the AAAAI Primary Immunodeficiency and Altered Immune Response Committees.
Otani IM, Lehman HK, Jongco AM, Tsao LR, Azar AE, Tarrant TK, Engel E, Walter JE, Truong TQ, Khan DA, Ballow M, Cunningham-Rundles C, Lu H, Kwan M, Barmettler S
J Allergy Clin Immunol 2022 May;149(5):1525-1560. Epub 2022 Feb 14 doi: 10.1016/j.jaci.2022.01.025. PMID: 35176351
Renal Manifestations of Common Variable Immunodeficiency.
Caza TN, Hassen SI, Larsen CP
Kidney360 2020 Jun 25;1(6):491-500. Epub 2020 Apr 21 doi: 10.34067/KID.0000432020. PMID: 35368588Free PMC Article
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
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

Diagnosis

Practical guidance for the diagnosis and management of secondary hypogammaglobulinemia: A Work Group Report of the AAAAI Primary Immunodeficiency and Altered Immune Response Committees.
Otani IM, Lehman HK, Jongco AM, Tsao LR, Azar AE, Tarrant TK, Engel E, Walter JE, Truong TQ, Khan DA, Ballow M, Cunningham-Rundles C, Lu H, Kwan M, Barmettler S
J Allergy Clin Immunol 2022 May;149(5):1525-1560. Epub 2022 Feb 14 doi: 10.1016/j.jaci.2022.01.025. PMID: 35176351
Epidemiology and pathophysiology of malignancy in common variable immunodeficiency?
Tak Manesh A, Azizi G, Heydari A, Kiaee F, Shaghaghi M, Hossein-Khannazer N, Yazdani R, Abolhassani H, Aghamohammadi A
Allergol Immunopathol (Madr) 2017 Nov-Dec;45(6):602-615. Epub 2017 Apr 12 doi: 10.1016/j.aller.2017.01.006. PMID: 28411962
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
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
Common variable immunodeficiency.
Cunningham-Rundles C
Curr Allergy Asthma Rep 2001 Sep;1(5):421-9. doi: 10.1007/s11882-001-0027-1. PMID: 11892068

Therapy

Autoimmunity in common variable immunodeficiency: a systematic review and meta-analysis.
Rizvi FS, Zainaldain H, Rafiemanesh H, Jamee M, Hossein-Khannazer N, Hamedifar H, Sabzevari A, Yazdani R, Abolhassani H, Aghamohammadi A, Azizi G
Expert Rev Clin Immunol 2020 Dec;16(12):1227-1235. Epub 2020 Dec 7 doi: 10.1080/1744666X.2021.1850272. PMID: 33203275
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
Common variable immunodeficiency-associated granulomatous and interstitial lung disease.
Prasse A, Kayser G, Warnatz K
Curr Opin Pulm Med 2013 Sep;19(5):503-9. doi: 10.1097/MCP.0b013e3283642c47. PMID: 23880700
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.
Cunningham-Rundles C, Maglione PJ
J Allergy Clin Immunol 2012 May;129(5):1425-1426.e3. doi: 10.1016/j.jaci.2012.03.025. PMID: 22541363

Prognosis

AGA Clinical Practice Update on Management of Refractory Celiac Disease: Expert Review.
Green PHR, Paski S, Ko CW, Rubio-Tapia A
Gastroenterology 2022 Nov;163(5):1461-1469. Epub 2022 Sep 19 doi: 10.1053/j.gastro.2022.07.086. PMID: 36137844
Epidemiology and pathophysiology of malignancy in common variable immunodeficiency?
Tak Manesh A, Azizi G, Heydari A, Kiaee F, Shaghaghi M, Hossein-Khannazer N, Yazdani R, Abolhassani H, Aghamohammadi A
Allergol Immunopathol (Madr) 2017 Nov-Dec;45(6):602-615. Epub 2017 Apr 12 doi: 10.1016/j.aller.2017.01.006. PMID: 28411962
Common variable immunodeficiency-associated granulomatous and interstitial lung disease.
Prasse A, Kayser G, Warnatz K
Curr Opin Pulm Med 2013 Sep;19(5):503-9. doi: 10.1097/MCP.0b013e3283642c47. PMID: 23880700
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
Uveitis and common variable immunodeficiency: data from the DEF-I study and literature review.
Pasquet F, Kodjikian L, Mura F, Riviere S, Harroche J, Blanc AP, Chaix F, Oksenhendler E, Seve P; DEF-I study group
Ocul Immunol Inflamm 2012 Jun;20(3):163-70. Epub 2012 Apr 17 doi: 10.3109/09273948.2012.674612. PMID: 22506485

Clinical prediction guides

Folic acid supplementation and malaria susceptibility and severity among people taking antifolate antimalarial drugs in endemic areas.
Crider K, Williams J, Qi YP, Gutman J, Yeung L, Mai C, Finkelstain J, Mehta S, Pons-Duran C, Menéndez C, Moraleda C, Rogers L, Daniels K, Green P
Cochrane Database Syst Rev 2022 Feb 1;2(2022) doi: 10.1002/14651858.CD014217. PMID: 36321557Free PMC Article
Non-infectious Complications of Common Variable Immunodeficiency: Updated Clinical Spectrum, Sequelae, and Insights to Pathogenesis.
Ho HE, Cunningham-Rundles C
Front Immunol 2020;11:149. Epub 2020 Feb 7 doi: 10.3389/fimmu.2020.00149. PMID: 32117289Free PMC Article
Respiratory Infections and Antibiotic Usage in Common Variable Immunodeficiency.
Sperlich JM, Grimbacher B, Workman S, Haque T, Seneviratne SL, Burns SO, Reiser V, Vach W, Hurst JR, Lowe DM
J Allergy Clin Immunol Pract 2018 Jan-Feb;6(1):159-168.e3. Epub 2017 Jul 19 doi: 10.1016/j.jaip.2017.05.024. PMID: 28734862Free 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
Cryptosporidiosis in perspective.
Tzipori S
Adv Parasitol 1988;27:63-129. doi: 10.1016/s0065-308x(08)60353-x. PMID: 3289331Free PMC Article

Recent systematic reviews

Folic acid supplementation and malaria susceptibility and severity among people taking antifolate antimalarial drugs in endemic areas.
Crider K, Williams J, Qi YP, Gutman J, Yeung L, Mai C, Finkelstain J, Mehta S, Pons-Duran C, Menéndez C, Moraleda C, Rogers L, Daniels K, Green P
Cochrane Database Syst Rev 2022 Feb 1;2(2022) doi: 10.1002/14651858.CD014217. PMID: 36321557Free PMC Article
Association of common variable immunodeficiency and rare and complex connective tissue and musculoskeletal diseases. A systematic literature review.
Mucke J, Cornet A, Witte T, Schneider M
Clin Exp Rheumatol 2022 May;40 Suppl 134(5):40-45. Epub 2022 Mar 28 doi: 10.55563/clinexprheumatol/bbuvih. PMID: 35349404
Autoimmunity in common variable immunodeficiency: a systematic review and meta-analysis.
Rizvi FS, Zainaldain H, Rafiemanesh H, Jamee M, Hossein-Khannazer N, Hamedifar H, Sabzevari A, Yazdani R, Abolhassani H, Aghamohammadi A, Azizi G
Expert Rev Clin Immunol 2020 Dec;16(12):1227-1235. Epub 2020 Dec 7 doi: 10.1080/1744666X.2021.1850272. PMID: 33203275
Malignancy in common variable immunodeficiency: a systematic review and meta-analysis.
Kiaee F, Azizi G, Rafiemanesh H, Zainaldain H, Sadaat Rizvi F, Alizadeh M, Jamee M, Mohammadi S, Habibi S, Sharifi L, Jadidi-Niaragh F, Haghi S, Yazdani R, Abolhassani H, Aghamohammadi A
Expert Rev Clin Immunol 2019 Oct;15(10):1105-1113. Epub 2019 Sep 15 doi: 10.1080/1744666X.2019.1658523. PMID: 31452405
Human Immunodeficiency Virus-Associated Cerebral Aneurysmal Vasculopathy: A Systematic Review.
Baeesa SS, Bakhaidar M, Almekhlafi MA, Madani TA
World Neurosurg 2016 Mar;87:220-9. Epub 2015 Nov 23 doi: 10.1016/j.wneu.2015.11.023. PMID: 26615788

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