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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
Ameratunga R, Gillis D, Steele R
J Allergy Clin Immunol Pract 2016 Sep-Oct;4(5):1017-8. doi: 10.1016/j.jaip.2016.02.023. PMID: 27587325

Recent clinical studies

Etiology

Hägele P, Staus P, Scheible R, Uhlmann A, Heeg M, Klemann C, Maccari ME, Ritterbusch H, Armstrong M, Cutcutache I, Elliott KS, von Bernuth H, Leahy TR, Leyh J, Holzinger D, Lehmberg K, Svec P, Masjosthusmann K, Hambleton S, Jakob M, Sparber-Sauer M, Kager L, Puzik A, Wolkewitz M, Lorenz MR, Schwarz K, Speckmann C, Rensing-Ehl A, Ehl S; ALPID study group
Lancet Haematol 2024 Feb;11(2):e114-e126. doi: 10.1016/S2352-3026(23)00362-9. PMID: 38302222
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
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
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
Gualdi G, Lougaris V, Baronio M, Vitali M, Tampella G, Moratto D, Tanghetti P, Monari P, Calzavara-Pinton P, Plebani A
J Investig Allergol Clin Immunol 2015;25(5):369-71. PMID: 26727769

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
Van Wert R, McKenna AM, Smith CA, Vadas P, Detsky AS, Mourad O
J Gen Intern Med 2013 May;28(5):728-32. Epub 2012 Nov 13 doi: 10.1007/s11606-012-2248-5. PMID: 23150069Free 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

Therapy

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
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
Wasserman RL
Immunotherapy 2014;6(5):553-67. doi: 10.2217/imt.14.34. PMID: 24896624
Van Wert R, McKenna AM, Smith CA, Vadas P, Detsky AS, Mourad O
J Gen Intern Med 2013 May;28(5):728-32. Epub 2012 Nov 13 doi: 10.1007/s11606-012-2248-5. PMID: 23150069Free 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

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
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
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
Williams DA, Thrasher AJ
Stem Cells Transl Med 2014 May;3(5):636-42. Epub 2014 Mar 28 doi: 10.5966/sctm.2013-0206. PMID: 24682287Free PMC Article

Clinical prediction guides

Villa A, Milito C, Deiana CM, Finco Gambier R, Punziano A, Buso H, Bez P, Lagnese G, Garzi G, Costanzo G, Giannuzzi G, Pagnozzi C, Dalm VASH, Spadaro G, Rattazzi M, Cinetto F, Firinu D
J Clin Immunol 2024 Feb 6;44(2):59. doi: 10.1007/s10875-024-01656-2. PMID: 38319477Free PMC Article
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
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
Williams DA, Thrasher AJ
Stem Cells Transl Med 2014 May;3(5):636-42. Epub 2014 Mar 28 doi: 10.5966/sctm.2013-0206. PMID: 24682287Free PMC Article
Tzipori S
Adv Parasitol 1988;27:63-129. doi: 10.1016/s0065-308x(08)60353-x. PMID: 3289331Free PMC Article

Recent systematic reviews

Marsden JWN, Laclé MM, Severs M, Leavis HL
Curr Opin Allergy Clin Immunol 2024 Dec 1;24(6):464-471. Epub 2024 Oct 7 doi: 10.1097/ACI.0000000000001040. PMID: 39479953Free PMC Article
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

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