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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.
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.
Recurrent bacterial infections
MedGen UID:
334943
Concept ID:
C1844383
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
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.
Abnormal T cell count
MedGen UID:
866762
Concept ID:
C4021113
Finding
A deviation from the normal count of T cells.
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.
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.

Professional guidelines

PubMed

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
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
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

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
Capistrano GG, Meneses GC, de Oliveira Neves FM, de Almeida Leitão R, Martins AMC, Libório AB
J Immunol Res 2018;2018:5841031. Epub 2018 Mar 15 doi: 10.1155/2018/5841031. PMID: 29736405Free PMC Article
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
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
Tzipori S
Adv Parasitol 1988;27:63-129. doi: 10.1016/s0065-308x(08)60353-x. PMID: 3289331Free PMC Article

Diagnosis

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
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
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
Bonilla FA, Geha RS
Pediatr Res 2009 May;65(5 Pt 2):13R-19R. doi: 10.1203/PDR.0b013e31819dbf88. PMID: 19190529
Cunningham-Rundles C
Curr Allergy Asthma Rep 2001 Sep;1(5):421-9. doi: 10.1007/s11882-001-0027-1. PMID: 11892068

Therapy

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
Prasse A, Kayser G, Warnatz K
Curr Opin Pulm Med 2013 Sep;19(5):503-9. doi: 10.1097/MCP.0b013e3283642c47. PMID: 23880700
Salzer U, Warnatz K, Peter HH
Arthritis Res Ther 2012 Sep 24;14(5):223. doi: 10.1186/ar4032. PMID: 23043756Free PMC Article
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
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

Prognosis

Iyengar A, Kamath N, Radhakrishnan J, Estebanez BT
Semin Nephrol 2023 Sep;43(5):151469. Epub 2024 Jan 19 doi: 10.1016/j.semnephrol.2023.151469. PMID: 38242806
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
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
Prasse A, Kayser G, Warnatz K
Curr Opin Pulm Med 2013 Sep;19(5):503-9. doi: 10.1097/MCP.0b013e3283642c47. PMID: 23880700
Salzer U, Warnatz K, Peter HH
Arthritis Res Ther 2012 Sep 24;14(5):223. doi: 10.1186/ar4032. PMID: 23043756Free PMC Article

Clinical prediction guides

Cabanero-Navalon MD, Garcia-Bustos V, Mira A, Moral Moral P, Salavert-Lleti M, Forner Giner MJ, Núñez Beltrán M, Todolí Parra J, Bracke C, Carda-Diéguez M
Clin Immunol 2023 Nov;256:109796. Epub 2023 Sep 27 doi: 10.1016/j.clim.2023.109796. PMID: 37774905
Franco-Esquivias AP, Peña CG, Torres-Lozano C, Vaca-Paniagua F, Díaz-Velásquez C, Ortega-Cisneros M, Quintero-Ramos A
Gac Med Mex 2019;155(5):447-452. doi: 10.24875/GMM.M20000330. PMID: 32091022
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
Touw CM, van de Ven AA, de Jong PA, Terheggen-Lagro S, Beek E, Sanders EA, van Montfrans JM
Pediatr Allergy Immunol 2010 Aug;21(5):793-805. Epub 2009 Nov 13 doi: 10.1111/j.1399-3038.2009.00963.x. PMID: 19912551
Tzipori S
Adv Parasitol 1988;27:63-129. doi: 10.1016/s0065-308x(08)60353-x. PMID: 3289331Free PMC Article

Recent systematic reviews

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
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
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
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
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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