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Immunodeficiency, common variable, 14(CVID14)

MedGen UID:
1614928
Concept ID:
C4540380
Disease or Syndrome
Synonyms: CVID14; IMMUNODEFICIENCY, COMMON VARIABLE, 14
 
Gene (location): IRF2BP2 (1q42.3)
 
Monarch Initiative: MONDO:0054691
OMIM®: 617765

Clinical features

From HPO
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.
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
Decreased circulating IgA level
MedGen UID:
57934
Concept ID:
C0162538
Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
Decreased circulating total IgM
MedGen UID:
116095
Concept ID:
C0239989
Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
Psoriasiform dermatitis
MedGen UID:
75508
Concept ID:
C0262985
Disease or Syndrome
A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).
Defective B cell differentiation
MedGen UID:
347920
Concept ID:
C1859624
Finding
Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.
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.
Decreased proportion of class-switched memory B cells
MedGen UID:
892709
Concept ID:
C4072925
Finding
A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.
Decreased specific antibody response to vaccination
MedGen UID:
1692004
Concept ID:
C5139158
Finding
A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination.
Decreased circulating IgG level
MedGen UID:
1720114
Concept ID:
C5234937
Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.

Professional guidelines

PubMed

Aghamohammadi A, Mohammadinejad P, Abolhassani H, Mirminachi B, Movahedi M, Gharagozlou M, Parvaneh N, Zeiaee V, Mirsaeed-Ghazi B, Chavoushzadeh Z, Mahdaviani A, Mansouri M, Yousefzadegan S, Sharifi B, Zandieh F, Hedayat E, Nadjafi A, Sherkat R, Shakerian B, Sadeghi-Shabestari M, Hosseini RF, Jabbari-Azad F, Ahanchian H, Behmanesh F, Zandkarimi M, Shirkani A, Cheraghi T, Fayezi A, Mohammadzadeh I, Amin R, Aleyasin S, Moghtaderi M, Ghaffari J, Arshi S, Javahertrash N, Nabavi M, Bemanian MH, Shafiei A, Kalantari N, Ahmadiafshar A, Khazaei HA, Atarod L, Rezaei N
J Clin Immunol 2014 May;34(4):478-90. doi: 10.1007/s10875-014-0001-z. PMID: 24659230

Recent clinical studies

Etiology

Jorgensen SF, Macpherson ME, Skarpengland T, Berge RK, Fevang B, Halvorsen B, Aukrust P
Front Immunol 2023;14:1199727. Epub 2023 Jul 20 doi: 10.3389/fimmu.2023.1199727. PMID: 37545531Free PMC Article
Ben Khaled M, Merdassi A, Rekaya S, Fraj IB, Lamouchi T, Zaiter I, Kouki R, Bejaoui M, Mellouli F, Ouederni M
Clin Rheumatol 2023 Nov;42(11):3123-3129. Epub 2023 Jul 28 doi: 10.1007/s10067-023-06722-5. PMID: 37505303
Bintalib HM, van de Ven A, Jacob J, Davidsen JR, Fevang B, Hanitsch LG, Malphettes M, van Montfrans J, Maglione PJ, Milito C, Routes J, Warnatz K, Hurst JR
Front Immunol 2023;14:1190235. Epub 2023 May 8 doi: 10.3389/fimmu.2023.1190235. PMID: 37223103Free PMC Article
Løken RØ, Fevang B
Front Immunol 2023;14:1124279. Epub 2023 Apr 26 doi: 10.3389/fimmu.2023.1124279. PMID: 37180118Free 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

Diagnosis

Bintalib HM, van de Ven A, Jacob J, Davidsen JR, Fevang B, Hanitsch LG, Malphettes M, van Montfrans J, Maglione PJ, Milito C, Routes J, Warnatz K, Hurst JR
Front Immunol 2023;14:1190235. Epub 2023 May 8 doi: 10.3389/fimmu.2023.1190235. PMID: 37223103Free PMC Article
Ferenc T, Vilibić-Čavlek T
Acta Clin Croat 2022 Mar;61(1):107-114. doi: 10.20471/acc.2022.61.01.13. PMID: 36398083Free PMC Article
Yazdani R, Habibi S, Sharifi L, Azizi G, Abolhassani H, Olbrich P, Aghamohammadi A
J Investig Allergol Clin Immunol 2020;30(1):14-34. Epub 2019 Feb 11 doi: 10.18176/jiaci.0388. PMID: 30741636
Salzer U, Warnatz K, Peter HH
Arthritis Res Ther 2012 Sep 24;14(5):223. doi: 10.1186/ar4032. PMID: 23043756Free PMC Article
Connolly JE Jr, McAdams HP, Erasmus JJ, Rosado-de-Christenson ML
J Thorac Imaging 1999 Jan;14(1):51-62. doi: 10.1097/00005382-199901000-00005. PMID: 9894953

Therapy

Yazdani R, Habibi S, Sharifi L, Azizi G, Abolhassani H, Olbrich P, Aghamohammadi A
J Investig Allergol Clin Immunol 2020;30(1):14-34. Epub 2019 Feb 11 doi: 10.18176/jiaci.0388. PMID: 30741636
Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, Zhang Y, Liu Z, Fritz JM, Marsh R, Husami A, Kissell D, Nortman S, Chaturvedi V, Haines H, Young LR, Mo J, Filipovich AH, Bleesing JJ, Mustillo P, Stephens M, Rueda CM, Chougnet CA, Hoebe K, McElwee J, Hughes JD, Karakoc-Aydiner E, Matthews HF, Price S, Su HC, Rao VK, Lenardo MJ, Jordan MB
Science 2015 Jul 24;349(6246):436-40. doi: 10.1126/science.aaa1663. PMID: 26206937
Salzer U, Warnatz K, Peter HH
Arthritis Res Ther 2012 Sep 24;14(5):223. doi: 10.1186/ar4032. PMID: 23043756Free PMC Article
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
Connolly JE Jr, McAdams HP, Erasmus JJ, Rosado-de-Christenson ML
J Thorac Imaging 1999 Jan;14(1):51-62. doi: 10.1097/00005382-199901000-00005. PMID: 9894953

Prognosis

Milito C, Pulvirenti F, Garzi G, Sculco E, Cinetto F, Firinu D, Lagnese G, Punziano A, Discardi C, Costanzo G, Felice C, Spadaro G, Ferrari S, Quinti I
Front Immunol 2023;14:1231242. Epub 2023 Oct 6 doi: 10.3389/fimmu.2023.1231242. PMID: 37868983Free PMC Article
Ben Khaled M, Merdassi A, Rekaya S, Fraj IB, Lamouchi T, Zaiter I, Kouki R, Bejaoui M, Mellouli F, Ouederni M
Clin Rheumatol 2023 Nov;42(11):3123-3129. Epub 2023 Jul 28 doi: 10.1007/s10067-023-06722-5. PMID: 37505303
Daza-Cajigal V, Segura-Guerrero M, López-Cueto M, Robles-Marhuenda Á, Camara C, Gerra-Galán T, Gómez-de-la-Torre R, Avendaño-Monje CL, Sánchez-Ramón S, Bosque-Lopez MJ, Quintero-Duarte A, Bonet-Vidal ML, Pons J
Front Immunol 2023;14:1197361. Epub 2023 Jun 5 doi: 10.3389/fimmu.2023.1197361. PMID: 37342345Free PMC Article
Salzer U, Warnatz K, Peter HH
Arthritis Res Ther 2012 Sep 24;14(5):223. doi: 10.1186/ar4032. PMID: 23043756Free PMC Article
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

Milito C, Pulvirenti F, Garzi G, Sculco E, Cinetto F, Firinu D, Lagnese G, Punziano A, Discardi C, Costanzo G, Felice C, Spadaro G, Ferrari S, Quinti I
Front Immunol 2023;14:1231242. Epub 2023 Oct 6 doi: 10.3389/fimmu.2023.1231242. PMID: 37868983Free PMC Article
Ben Khaled M, Merdassi A, Rekaya S, Fraj IB, Lamouchi T, Zaiter I, Kouki R, Bejaoui M, Mellouli F, Ouederni M
Clin Rheumatol 2023 Nov;42(11):3123-3129. Epub 2023 Jul 28 doi: 10.1007/s10067-023-06722-5. PMID: 37505303
De Almeida BI, Smith TL, Delic A, Esquibel L, Galli J, Millsap L, Paz Soldán MM, Cortez MM, Rose J, Greenlee JE, Gundlapalli AV, Hill HR, Wong KH, Clardy SL
Neurol Neuroimmunol Neuroinflamm 2023 May;10(3) Epub 2023 Feb 16 doi: 10.1212/NXI.0000000000200088. PMID: 36797058Free PMC Article
Harder I, Münchhalfen M, Andrieux G, Boerries M, Grimbacher B, Eibel H, Maccari ME, Ehl S, Wienands J, Jellusova J, Warnatz K, Keller B
Cells 2022 Jan 28;11(3) doi: 10.3390/cells11030464. PMID: 35159274Free 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

Recent systematic reviews

Bintalib HM, van de Ven A, Jacob J, Davidsen JR, Fevang B, Hanitsch LG, Malphettes M, van Montfrans J, Maglione PJ, Milito C, Routes J, Warnatz K, Hurst JR
Front Immunol 2023;14:1190235. Epub 2023 May 8 doi: 10.3389/fimmu.2023.1190235. PMID: 37223103Free 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
Avanceña ALV, Hutton DW
Value Health 2020 Nov;23(11):1509-1521. Epub 2020 Sep 10 doi: 10.1016/j.jval.2020.08.001. PMID: 33127022
Jamee M, Zaki-Dizaji M, Lo B, Abolhassani H, Aghamahdi F, Mosavian M, Nademi Z, Mohammadi H, Jadidi-Niaragh F, Rojas M, Anaya JM, Azizi G
J Allergy Clin Immunol Pract 2020 Sep;8(8):2747-2760.e7. Epub 2020 May 16 doi: 10.1016/j.jaip.2020.04.070. PMID: 32428713
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

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