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Immunodeficiency, common variable, 2(CVID2)

MedGen UID:
461704
Concept ID:
C3150354
Disease or Syndrome
Synonyms: ANTIBODY DEFICIENCY DUE TO TACI DEFECT; Common Variable Immune Deficiency; Hypogamma-globulinemia, acquired; HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY; Immunoglobulin deficiency, late-onset
 
Genes (locations): CD19 (16p11.2); CR2 (1q32.2); ICOS (2q33.2); TNFRSF13B (17p11.2); TNFRSF13C (22q13.2)
 
Monarch Initiative: MONDO:0009413
OMIM®: 240500

Clinical features

From HPO
Lymphoma
MedGen UID:
44223
Concept ID:
C0024299
Neoplastic Process
A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
Neoplasm
MedGen UID:
10294
Concept ID:
C0027651
Neoplastic Process
An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Bronchiectasis
MedGen UID:
14234
Concept ID:
C0006267
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Recurrent bronchitis
MedGen UID:
148159
Concept ID:
C0741796
Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
Autoimmunity
MedGen UID:
2136
Concept ID:
C0004368
Pathologic Function
The occurrence of an immune reaction against the organism's own cells or tissues.
Conjunctivitis
MedGen UID:
1093
Concept ID:
C0009763
Disease or Syndrome
Inflammation of the conjunctiva.
Meningitis
MedGen UID:
6298
Concept ID:
C0025289
Disease or Syndrome
Inflammation of the meninges.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
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.
Lymphadenopathy
MedGen UID:
96929
Concept ID:
C0497156
Disease or Syndrome
Enlargment (swelling) of a lymph node.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Recurrent bacterial infections
MedGen UID:
334943
Concept ID:
C1844383
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Impaired T cell function
MedGen UID:
395415
Concept ID:
C1860127
Cell or Molecular Dysfunction
Abnormally reduced ability of T cells to perform their functions in 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.
Follicular hyperplasia
MedGen UID:
863170
Concept ID:
C4014733
Finding
Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.
Abnormal T cell count
MedGen UID:
866762
Concept ID:
C4021113
Finding
A deviation from the normal count of T cells.
Partial absence of specific antibody response to unconjugated pneumococcus vaccine
MedGen UID:
1686478
Concept ID:
C5139464
Finding
A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, 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

Ziętkiewicz M, Buda N, Więsik-Szewczyk E, Piskunowicz M, Grzegowska D, Jahnz-Różyk K, Zdrojewski Z
Front Immunol 2022;13:1031258. Epub 2022 Oct 25 doi: 10.3389/fimmu.2022.1031258. PMID: 36389742Free PMC Article

Recent clinical studies

Etiology

Chawla S, Barman P, Tyagi R, Jindal AK, Sharma S, Rawat A, Singh S
Front Immunol 2022;13:869466. Epub 2022 Jun 20 doi: 10.3389/fimmu.2022.869466. PMID: 35795667Free PMC Article
Caza TN, Hassen SI, Larsen CP
Kidney360 2020 Jun 25;1(6):491-500. Epub 2020 Apr 21 doi: 10.34067/KID.0000432020. PMID: 35368588Free PMC Article
Leone P, Vacca A, Dammacco F, Racanelli V
Int J Mol Sci 2018 Feb 2;19(2) doi: 10.3390/ijms19020451. PMID: 29393912Free PMC Article
Azizi G, Abolhassani H, Asgardoon MH, Alinia T, Yazdani R, Mohammadi J, Rezaei N, Ochs HD, Aghamohammadi A
Expert Rev Clin Immunol 2017 Feb;13(2):101-115. Epub 2016 Sep 16 doi: 10.1080/1744666X.2016.1224664. PMID: 27636680
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

Diagnosis

Rosen Y
Arch Pathol Lab Med 2022 Jan 2;146(2):233-251. doi: 10.5858/arpa.2020-0543-RA. PMID: 33905479
Leone P, Vacca A, Dammacco F, Racanelli V
Int J Mol Sci 2018 Feb 2;19(2) doi: 10.3390/ijms19020451. PMID: 29393912Free PMC Article
Hill QA, Stamps R, Massey E, Grainger JD, Provan D, Hill A; British Society for Haematology Guidelines
Br J Haematol 2017 Apr;177(2):208-220. Epub 2017 Apr 3 doi: 10.1111/bjh.14654. PMID: 28369704
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
Azizi G, Abolhassani H, Asgardoon MH, Alinia T, Yazdani R, Mohammadi J, Rezaei N, Ochs HD, Aghamohammadi A
Expert Rev Clin Immunol 2017 Feb;13(2):101-115. Epub 2016 Sep 16 doi: 10.1080/1744666X.2016.1224664. PMID: 27636680

Therapy

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
Ramzi N, Jamee M, Bakhtiyari M, Rafiemanesh H, Zainaldain H, Tavakol M, Rezaei A, Kalvandi M, Zian Z, Mohammadi H, Jadidi-Niaragh F, Yazdani R, Abolhassani H, Aghamohammadi A, Azizi G
Pediatr Pulmonol 2020 Feb;55(2):292-299. Epub 2019 Dec 13 doi: 10.1002/ppul.24599. PMID: 31833673
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
Leone P, Vacca A, Dammacco F, Racanelli V
Int J Mol Sci 2018 Feb 2;19(2) doi: 10.3390/ijms19020451. PMID: 29393912Free 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

Prognosis

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
Popa C, Fischer R, Kurbitaeva S, Ravakhah K
South Med J 2022 Aug;115(8):593-596. doi: 10.14423/SMJ.0000000000001424. PMID: 35922044
Sperlich JM, Grimbacher B, Soetedjo V, Workman S, Burns SO, Lowe DM, Hurst JR
J Clin Immunol 2022 Apr;42(3):572-581. Epub 2022 Jan 11 doi: 10.1007/s10875-022-01206-8. PMID: 35015197Free PMC Article
Milito C, Soccodato V, Auria S, Pulvirenti F, Quinti I
Curr Opin Allergy Clin Immunol 2021 Dec 1;21(6):535-544. doi: 10.1097/ACI.0000000000000789. PMID: 34580250
Ramzi N, Jamee M, Bakhtiyari M, Rafiemanesh H, Zainaldain H, Tavakol M, Rezaei A, Kalvandi M, Zian Z, Mohammadi H, Jadidi-Niaragh F, Yazdani R, Abolhassani H, Aghamohammadi A, Azizi G
Pediatr Pulmonol 2020 Feb;55(2):292-299. Epub 2019 Dec 13 doi: 10.1002/ppul.24599. PMID: 31833673

Clinical prediction guides

Chawla S, Barman P, Tyagi R, Jindal AK, Sharma S, Rawat A, Singh S
Front Immunol 2022;13:869466. Epub 2022 Jun 20 doi: 10.3389/fimmu.2022.869466. PMID: 35795667Free PMC Article
ShibenduGhosh CV, Yusuf SA
J Assoc Physicians India 2022 Apr;70(4):11-12. PMID: 35443489
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource, Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC
Nature 2020 Jul;583(7814):90-95. Epub 2020 May 6 doi: 10.1038/s41586-020-2265-1. PMID: 32499645Free 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
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

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
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
Ramzi N, Jamee M, Bakhtiyari M, Rafiemanesh H, Zainaldain H, Tavakol M, Rezaei A, Kalvandi M, Zian Z, Mohammadi H, Jadidi-Niaragh F, Yazdani R, Abolhassani H, Aghamohammadi A, Azizi G
Pediatr Pulmonol 2020 Feb;55(2):292-299. Epub 2019 Dec 13 doi: 10.1002/ppul.24599. PMID: 31833673
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

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