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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.
See: Feature record | Search on this feature
Hydronephrosis
MedGen UID:
42531
•Concept ID:
C0020295
•
Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Macroscopic hematuria
MedGen UID:
633103
•Concept ID:
C0473237
•
Finding
Hematuria that is visible upon inspection of the urine.
See: Feature record | Search on this feature
Enlarged kidney
MedGen UID:
108156
•Concept ID:
C0542518
•
Finding
An abnormal increase in the size of the kidney.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Hepatomegaly
MedGen UID:
42428
•Concept ID:
C0019209
•
Finding
Abnormally increased size of the liver.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Glomerulonephritis
MedGen UID:
6616
•Concept ID:
C0017658
•
Disease or Syndrome
Inflammation of the renal glomeruli.
See: Feature record | Search on this feature
Autoimmune thrombocytopenia
MedGen UID:
116621
•Concept ID:
C0242584
•
Disease or Syndrome
The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.
See: Feature record | Search on this feature
Recurrent bacterial infections
MedGen UID:
334943
•Concept ID:
C1844383
•
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
See: Feature record | Search on this feature
Abnormal T cell count
MedGen UID:
866762
•Concept ID:
C4021113
•
Finding
A deviation from the normal count of T cells.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Purpura
MedGen UID:
19584
•Concept ID:
C0034150
•
Disease or Syndrome
Purpura (from Latin
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Treatment of inflammatory complications in common variable immunodeficiency (CVID): current concepts and future perspectives.
Fevang B
Expert Rev Clin Immunol 2023 Jun;19(6):627-638. Epub 2023 Apr 6 doi: 10.1080/1744666X.2023.2198208. PMID: 36996348
AGA Clinical Practice Update on Management of Refractory Celiac Disease: Expert Review.
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
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.
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

Cytomegalovirus in primary immunodeficiency.
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
Clozapine-associated secondary antibody deficiency.
Ponsford MJ, Pecoraro A, Jolles S
Curr Opin Allergy Clin Immunol 2019 Dec;19(6):553-562. doi: 10.1097/ACI.0000000000000592. PMID: 31567398
The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.
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
Systematic review of case reports of antiphospholipid syndrome following infection.
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
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.
Salzer U, Bacchelli C, Buckridge S, Pan-Hammarström Q, Jennings S, Lougaris V, Bergbreiter A, Hagena T, Birmelin J, Plebani A, Webster AD, Peter HH, Suez D, Chapel H, McLean-Tooke A, Spickett GP, Anover-Sombke S, Ochs HD, Urschel S, Belohradsky BH, Ugrinovic S, Kumararatne DS, Lawrence TC, Holm AM, Franco JL, Schulze I, Schneider P, Gertz EM, Schäffer AA, Hammarström L, Thrasher AJ, Gaspar HB, Grimbacher B
Blood 2009 Feb 26;113(9):1967-76. Epub 2008 Nov 3 doi: 10.1182/blood-2008-02-141937. PMID: 18981294Free PMC Article

Diagnosis

Liver disease in primary antibody deficiencies.
Bez P, Warnatz K
Curr Opin Allergy Clin Immunol 2024 Dec 1;24(6):434-439. Epub 2024 Sep 25 doi: 10.1097/ACI.0000000000001035. PMID: 39329167
Inborn Errors of Immunity and Autoimmune Disease.
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
AGA Clinical Practice Update on Management of Refractory Celiac Disease: Expert Review.
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
Cytomegalovirus in primary immunodeficiency.
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
The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.
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

Therapy

The biological basis for current treatment strategies for granulomatous disease in common variable immunodeficiency.
van Stigt AC, Gualtiero G, Cinetto F, Dalm VASH, IJspeert H, Muscianisi F
Curr Opin Allergy Clin Immunol 2024 Dec 1;24(6):479-487. Epub 2024 Oct 21 doi: 10.1097/ACI.0000000000001032. PMID: 39431514
Treatment of inflammatory complications in common variable immunodeficiency (CVID): current concepts and future perspectives.
Fevang B
Expert Rev Clin Immunol 2023 Jun;19(6):627-638. Epub 2023 Apr 6 doi: 10.1080/1744666X.2023.2198208. PMID: 36996348
Cytomegalovirus in primary immunodeficiency.
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
Clozapine-associated secondary antibody deficiency.
Ponsford MJ, Pecoraro A, Jolles S
Curr Opin Allergy Clin Immunol 2019 Dec;19(6):553-562. doi: 10.1097/ACI.0000000000000592. PMID: 31567398
Immunodeficiency-associated lymphoproliferative disorders.
Knowles DM
Mod Pathol 1999 Feb;12(2):200-17. PMID: 10071343

Prognosis

Inborn Errors of Immunity and Autoimmune Disease.
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
Treatment of inflammatory complications in common variable immunodeficiency (CVID): current concepts and future perspectives.
Fevang B
Expert Rev Clin Immunol 2023 Jun;19(6):627-638. Epub 2023 Apr 6 doi: 10.1080/1744666X.2023.2198208. PMID: 36996348
AGA Clinical Practice Update on Management of Refractory Celiac Disease: Expert Review.
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
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
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
Pulmonary Manifestations of Common Variable Immunodeficiency.
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

Paucity of gastrointestinal plasma cells in common variable immunodeficiency.
Marsden JWN, Laclé MM, Severs M, Leavis HL
Curr Opin Allergy Clin Immunol 2024 Dec 1;24(6):464-471. Epub 2024 Oct 7 doi: 10.1097/ACI.0000000000001040. PMID: 39479953
Treatment of inflammatory complications in common variable immunodeficiency (CVID): current concepts and future perspectives.
Fevang B
Expert Rev Clin Immunol 2023 Jun;19(6):627-638. Epub 2023 Apr 6 doi: 10.1080/1744666X.2023.2198208. PMID: 36996348
Cytomegalovirus in primary immunodeficiency.
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
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
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
Systematic review of case reports of antiphospholipid syndrome following infection.
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

Paucity of gastrointestinal plasma cells in common variable immunodeficiency.
Marsden JWN, Laclé MM, Severs M, Leavis HL
Curr Opin Allergy Clin Immunol 2024 Dec 1;24(6):464-471. Epub 2024 Oct 7 doi: 10.1097/ACI.0000000000001040. PMID: 39479953
Systematic review of mortality and survival rates for APDS.
Hanson J, Bonnen PE
Clin Exp Med 2024 Jan 27;24(1):17. doi: 10.1007/s10238-023-01259-y. PMID: 38280023Free PMC Article
Autoimmunity in common variable immunodeficiency: a systematic review and meta-analysis.
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
Primary immunodeficiency and recalcitrant chronic sinusitis: a systematic review.
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
Systematic review of case reports of antiphospholipid syndrome following infection.
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

Supplemental Content

Table of contents

    Clinical resources

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    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
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      Related literature resources in PubMed
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      Related literature resources in PubMed

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