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Immunodeficiency, common variable, 7(CVID7)

MedGen UID:
762276
Concept ID:
C3542922
Disease or Syndrome
Synonyms: CVID7; IMMUNODEFICIENCY, COMMON VARIABLE, 7
 
Gene (location): CR2 (1q32.2)
 
Monarch Initiative: MONDO:0013862
OMIM®: 614699

Clinical features

From HPO
Myalgia
MedGen UID:
68541
Concept ID:
C0231528
Sign or Symptom
Pain in muscle.
Recurrent urinary tract infections
MedGen UID:
120466
Concept ID:
C0262655
Disease or Syndrome
Repeated infections of the urinary tract.
Chronic diarrhea
MedGen UID:
96036
Concept ID:
C0401151
Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Pharyngalgia
MedGen UID:
116585
Concept ID:
C0242429
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat.
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.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Decreased circulating IgA concentration
MedGen UID:
57934
Concept ID:
C0162538
Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
Decreased specific pneumococcal antibody level
MedGen UID:
868496
Concept ID:
C4022890
Finding
The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.
Decreased circulating total IgG concentration
MedGen UID:
1692727
Concept ID:
C5139151
Finding
A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.
Reduced isohemagglutinin level
MedGen UID:
1700218
Concept ID:
C5139157
Finding
Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).
Chronic (near) absent circulating IgG4
MedGen UID:
1736323
Concept ID:
C5421692
Finding
A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured.
Chronic partially decreased circulating IgG1
MedGen UID:
1734705
Concept ID:
C5421701
Finding
A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
Body temperature elevated above the normal range.

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
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource, Warnatz K, Grimbacher B; NIHR BioResource
J Allergy Clin Immunol 2020 Oct;146(4):901-911. Epub 2020 Apr 9 doi: 10.1016/j.jaci.2019.11.051. PMID: 32278790Free PMC Article
Verma N, Thaventhiran A, Gathmann B; ESID Registry Working Party, Thaventhiran J, Grimbacher B
Drugs Aging 2013 Jul;30(7):503-12. doi: 10.1007/s40266-013-0079-7. PMID: 23605785

Recent clinical studies

Etiology

Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, van Montfrans J, Scheible R, Rusch S, Gasteiger LM, Grimbacher B, Mahlaoui N, Ehl S; ESID Registry Working Party and collaborators
J Allergy Clin Immunol Pract 2019 Jul-Aug;7(6):1763-1770. Epub 2019 Feb 15 doi: 10.1016/j.jaip.2019.02.004. PMID: 30776527
Hirabayashi S, Wlodarski MW, Kozyra E, Niemeyer CM
Int J Hematol 2017 Aug;106(2):175-182. Epub 2017 Jun 22 doi: 10.1007/s12185-017-2285-2. PMID: 28643018
Abdel-Wahab N, Lopez-Olivo MA, Pinto-Patarroyo GP, Suarez-Almazor ME
Lupus 2016 Dec;25(14):1520-1531. Epub 2016 Apr 7 doi: 10.1177/0961203316640912. PMID: 27060064Free 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
Tzipori S
Adv Parasitol 1988;27:63-129. doi: 10.1016/s0065-308x(08)60353-x. PMID: 3289331Free PMC Article

Diagnosis

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
Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, van Montfrans J, Scheible R, Rusch S, Gasteiger LM, Grimbacher B, Mahlaoui N, Ehl S; ESID Registry Working Party and collaborators
J Allergy Clin Immunol Pract 2019 Jul-Aug;7(6):1763-1770. Epub 2019 Feb 15 doi: 10.1016/j.jaip.2019.02.004. PMID: 30776527
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
Allenspach E, Torgerson TR
J Clin Immunol 2016 May;36 Suppl 1:57-67. Epub 2016 May 23 doi: 10.1007/s10875-016-0294-1. PMID: 27210535
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

Therapy

Sifers T, Hirten R, Mehandru S, Ko HM, Colombel JF, Cunningham-Rundles C
Clin Immunol 2020 Mar;212:108362. Epub 2020 Feb 11 doi: 10.1016/j.clim.2020.108362. PMID: 32058070Free 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
Brooks JP, Ghaffari G
Allergy Asthma Proc 2016 Nov;37(6):501-504. doi: 10.2500/aap.2016.37.3992. PMID: 27931306
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
Cunningham-Rundles C
J Clin Immunol 2008 May;28 Suppl 1(Suppl 1):S42-5. Epub 2008 Mar 6 doi: 10.1007/s10875-008-9182-7. PMID: 18322785Free PMC Article

Prognosis

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
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
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource, Warnatz K, Grimbacher B; NIHR BioResource
J Allergy Clin Immunol 2020 Oct;146(4):901-911. Epub 2020 Apr 9 doi: 10.1016/j.jaci.2019.11.051. PMID: 32278790Free PMC Article
van der Poorten DK, McLeod D, Ahlenstiel G, Read S, Kwok A, Santhakumar C, Bassan M, Culican S, Campbell D, Wong SWJ, Evans L, Jideh B, Kane A, Katelaris CH, Keat K, Ko Y, Lee JA, Limaye S, Lin MW, Murad A, Rafferty M, Suan D, Swaminathan S, Riminton SD, Toong C, Berglund LJ
J Clin Immunol 2018 Oct;38(7):768-777. Epub 2018 Sep 15 doi: 10.1007/s10875-018-0546-3. PMID: 30219982
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

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
Andriessen MVE, Legger GE, Bredius RGM, van Gijn ME, Hak AE, Muller PCEH, Kamphuis S, Klouwer FCC, Kuijpers TW, Leavis HL, Nierkens S, Rutgers A, van der Veken LT, van Well GTJ, Mulders-Manders CM, van Montfrans JM
J Clin Immunol 2023 Oct;43(7):1581-1596. Epub 2023 Jun 5 doi: 10.1007/s10875-023-01521-8. PMID: 37277582Free PMC Article
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource, Warnatz K, Grimbacher B; NIHR BioResource
J Allergy Clin Immunol 2020 Oct;146(4):901-911. Epub 2020 Apr 9 doi: 10.1016/j.jaci.2019.11.051. PMID: 32278790Free PMC Article
Abdel-Wahab N, Lopez-Olivo MA, Pinto-Patarroyo GP, Suarez-Almazor ME
Lupus 2016 Dec;25(14):1520-1531. Epub 2016 Apr 7 doi: 10.1177/0961203316640912. PMID: 27060064Free 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

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
Mekuriaw B, Belayneh Z, Molla A, Mehare T
Harm Reduct J 2021 May 17;18(1):55. doi: 10.1186/s12954-021-00503-6. PMID: 34001138Free 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
Abdel-Wahab N, Lopez-Olivo MA, Pinto-Patarroyo GP, Suarez-Almazor ME
Lupus 2016 Dec;25(14):1520-1531. Epub 2016 Apr 7 doi: 10.1177/0961203316640912. PMID: 27060064Free PMC Article
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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