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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 concentration
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 concentration
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

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
Joshi TP, Duvic M
Am J Clin Dermatol 2024 Mar;25(2):243-259. Epub 2023 Dec 30 doi: 10.1007/s40257-023-00836-x. PMID: 38159213
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
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
Cavazzana M, Touzot F, Moshous D, Neven B, Blanche S, Fischer A
Curr Opin Allergy Clin Immunol 2014 Dec;14(6):516-20. doi: 10.1097/ACI.0000000000000119. PMID: 25304229

Diagnosis

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
Joshi TP, Duvic M
Am J Clin Dermatol 2024 Mar;25(2):243-259. Epub 2023 Dec 30 doi: 10.1007/s40257-023-00836-x. PMID: 38159213
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
Nabavi M, Mohammadi F, Arshi S, Bemanian MH, Fallahpour M, Atashrazm F, Shokri S
Iran J Allergy Asthma Immunol 2022 Oct 26;21(5):594-599. doi: 10.18502/ijaai.v21i5.11046. PMID: 36341567
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

Therapy

Joshi TP, Duvic M
Am J Clin Dermatol 2024 Mar;25(2):243-259. Epub 2023 Dec 30 doi: 10.1007/s40257-023-00836-x. PMID: 38159213
Roosens W, Staels F, Van Loo S, Humblet-Baron S, Meyts I, De Samblanx H, Verslype C, van Malenstein H, van der Merwe S, Laleman W, Schrijvers R
Front Immunol 2023;14:1264482. Epub 2023 Sep 19 doi: 10.3389/fimmu.2023.1264482. PMID: 37795099Free 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
Fiocchi A, Claps A, Dahdah L, Brindisi G, Dionisi-Vici C, Martelli A
Curr Opin Allergy Clin Immunol 2014 Jun;14(3):246-54. doi: 10.1097/ACI.0000000000000057. PMID: 24739227Free PMC Article
Exner R, Wessner B, Manhart N, Roth E
Wien Klin Wochenschr 2000 Jul 28;112(14):610-6. PMID: 11008322

Prognosis

Zabihi MR, Moradi Z, Safari N, Salehi Z, Kavousi K
Sci Rep 2024 Oct 12;14(1):23899. doi: 10.1038/s41598-024-74728-3. PMID: 39396099Free PMC Article
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
Nabavi M, Mohammadi F, Arshi S, Bemanian MH, Fallahpour M, Atashrazm F, Shokri S
Iran J Allergy Asthma Immunol 2022 Oct 26;21(5):594-599. doi: 10.18502/ijaai.v21i5.11046. PMID: 36341567
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

Zabihi MR, Moradi Z, Safari N, Salehi Z, Kavousi K
Sci Rep 2024 Oct 12;14(1):23899. doi: 10.1038/s41598-024-74728-3. PMID: 39396099Free PMC Article
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
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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