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Immunodeficiency, common variable, 6(CVID6)

MedGen UID:
462091
Concept ID:
C3150741
Disease or Syndrome
Synonym: ANTIBODY DEFICIENCY DUE TO CD81 DEFECT
 
Gene (location): CD81 (11p15.5)
 
Monarch Initiative: MONDO:0013286
OMIM®: 613496

Definition

Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene. [from MONDO]

Clinical features

From HPO
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Nephrotic range proteinuria
MedGen UID:
619713
Concept ID:
C0445118
Disease or Syndrome
Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children.
Macroscopic hematuria
MedGen UID:
633103
Concept ID:
C0473237
Finding
Hematuria that is visible upon inspection of the urine.
Enlarged kidney
MedGen UID:
108156
Concept ID:
C0542518
Finding
An abnormal increase in the size of the kidney.
Stage 5 chronic kidney disease
MedGen UID:
384526
Concept ID:
C2316810
Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Mesangial Immune complex deposition
MedGen UID:
1784789
Concept ID:
C5539490
Finding
Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
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.
Glomerulonephritis
MedGen UID:
6616
Concept ID:
C0017658
Disease or Syndrome
Inflammation of the renal glomeruli.
Autoimmune thrombocytopenia
MedGen UID:
116621
Concept ID:
C0242584
Disease or Syndrome
The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.
Recurrent bacterial infections
MedGen UID:
334943
Concept ID:
C1844383
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
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.
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.
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.
Complete or near-complete absence of specific antibody response to tetanus vaccine
MedGen UID:
1687415
Concept ID:
C5139458
Finding
The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.
Purpura
MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome
Purpura (from Latin

Professional guidelines

PubMed

Fevang B
Expert Rev Clin Immunol 2023 Jun;19(6):627-638. Epub 2023 Apr 6 doi: 10.1080/1744666X.2023.2198208. PMID: 36996348
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
Schwab C, Gabrysch A, Olbrich P, Patiño V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom DM, Lucena JM, Seidl M, Schmitt-Graeff A, Reiser V, Emmerich F, Frede N, Bulashevska A, Salzer U, Schubert D, Hayakawa S, Okada S, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Sumnik Z, Sediva A, Slatter M, Arkwright PD, Cant A, Lorenz HM, Giese T, Lougaris V, Plebani A, Price C, Sullivan KE, Moutschen M, Litzman J, Freiberger T, van de Veerdonk FL, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Speckmann C, Ehl S, Leichtner A, Blumberg R, Franke A, Snapper S, Zeissig S, Cunningham-Rundles C, Giulino-Roth L, Elemento O, Dückers G, Niehues T, Fronkova E, Kanderová V, Platt CD, Chou J, Chatila TA, Geha R, McDermott E, Bunn S, Kurzai M, Schulz A, Alsina L, Casals F, Deyà-Martinez A, Hambleton S, Kanegane H, Taskén K, Neth O, Grimbacher B
J Allergy Clin Immunol 2018 Dec;142(6):1932-1946. Epub 2018 May 4 doi: 10.1016/j.jaci.2018.02.055. PMID: 29729943Free PMC Article

Recent clinical studies

Etiology

Godsell J, Chan S, Slade C, Bryant V, Douglass JA, Sasadeusz J, Yong MK
Curr Opin Infect Dis 2021 Dec 1;34(6):663-671. doi: 10.1097/QCO.0000000000000797. PMID: 34608876
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
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
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
Jolles S
J Allergy Clin Immunol Pract 2013 Nov-Dec;1(6):545-56; quiz 557. Epub 2013 Oct 31 doi: 10.1016/j.jaip.2013.09.015. PMID: 24565700

Diagnosis

Gray PE, David C
J Allergy Clin Immunol Pract 2023 Jun;11(6):1602-1622. Epub 2023 Apr 28 doi: 10.1016/j.jaip.2023.04.018. PMID: 37119983
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
Godsell J, Chan S, Slade C, Bryant V, Douglass JA, Sasadeusz J, Yong MK
Curr Opin Infect Dis 2021 Dec 1;34(6):663-671. doi: 10.1097/QCO.0000000000000797. PMID: 34608876
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
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

Therapy

Fevang B
Expert Rev Clin Immunol 2023 Jun;19(6):627-638. Epub 2023 Apr 6 doi: 10.1080/1744666X.2023.2198208. PMID: 36996348
Godsell J, Chan S, Slade C, Bryant V, Douglass JA, Sasadeusz J, Yong MK
Curr Opin Infect Dis 2021 Dec 1;34(6):663-671. doi: 10.1097/QCO.0000000000000797. PMID: 34608876
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
Ponsford MJ, Pecoraro A, Jolles S
Curr Opin Allergy Clin Immunol 2019 Dec;19(6):553-562. doi: 10.1097/ACI.0000000000000592. PMID: 31567398
Jolles S
J Allergy Clin Immunol Pract 2013 Nov-Dec;1(6):545-56; quiz 557. Epub 2013 Oct 31 doi: 10.1016/j.jaip.2013.09.015. PMID: 24565700

Prognosis

Gray PE, David C
J Allergy Clin Immunol Pract 2023 Jun;11(6):1602-1622. Epub 2023 Apr 28 doi: 10.1016/j.jaip.2023.04.018. PMID: 37119983
Fevang B
Expert Rev Clin Immunol 2023 Jun;19(6):627-638. Epub 2023 Apr 6 doi: 10.1080/1744666X.2023.2198208. PMID: 36996348
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
Bang TJ, Richards JC, Olson AL, Groshong SD, Gelfand EW, Lynch DA
J Thorac Imaging 2018 Nov;33(6):377-383. doi: 10.1097/RTI.0000000000000350. PMID: 30067570

Clinical prediction guides

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
Fevang B
Expert Rev Clin Immunol 2023 Jun;19(6):627-638. Epub 2023 Apr 6 doi: 10.1080/1744666X.2023.2198208. PMID: 36996348
Godsell J, Chan S, Slade C, Bryant V, Douglass JA, Sasadeusz J, Yong MK
Curr Opin Infect Dis 2021 Dec 1;34(6):663-671. doi: 10.1097/QCO.0000000000000797. PMID: 34608876
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

Recent systematic reviews

Hanson J, Bonnen PE
Clin Exp Med 2024 Jan 27;24(1):17. doi: 10.1007/s10238-023-01259-y. PMID: 38280023Free 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
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
Mazza JM, Lin SY
Int Forum Allergy Rhinol 2016 Oct;6(10):1029-1033. Epub 2016 May 17 doi: 10.1002/alr.21789. PMID: 27187624
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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