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Clinical Reviews in Allergy & Immunology
Published in: Clinical Reviews in Allergy & Immunology 3/2018

01-12-2018

Common Variable Immunodeficiency and Liver Involvement

Authors: Junmin Song, Ana Lleo, Guo Xiang Yang, Weici Zhang, Christopher L. Bowlus, M. Eric Gershwin, Patrick S. C. Leung

Published in: Clinical Reviews in Allergy & Immunology | Issue 3/2018

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Abstract

Common variable immunodeficiency (CVID) is a primary B-cell immunodeficiency disorder, characterized by remarkable hypogammaglobulinemia. The disease can develop at any age without gender predominance. The prevalence of CVID varies widely worldwide. The underlying causes of CVID remain largely unknown; primary B-cell dysfunctions, defects in T cells and antigen-presenting cells are involved. Although some monogenetic defects have been identified in some CVID patients, it is likely that CVID is polygenic. Patients with CVID develop recurrent and chronic infections (e.g., bacterial infections of the respiratory or gastrointestinal tract), autoimmune diseases, lymphoproliferation, malignancies, and granulomatous lesions. Interestingly, autoimmunity can be the only clinical manifestation of CVID at the time of diagnosis and may even develop prior to hypogammaglobulinemia. The diagnosis of CVID is largely based on the criteria established by European Society for Immunodeficiencies and Pan-American Group for Immunodeficiency (ESID/PAGID) and with some recent modifications. The disease can affect multiple organs, including the liver. Clinical features of CVID patients with liver involvement include abnormal liver biochemistries, primarily elevation of alkaline phosphatase (ALP), nodular regenerative hyperplasia (NRH), or liver cirrhosis and its complications. Replacement therapy with immunoglobulin (Ig) and anti-infection therapy are the primary treatment regimen for CVID patients. No specific therapy for liver involvement of CVID is currently available, and liver transplantation is an option only in select cases. The prognosis of CVID varies widely. Further understanding in the etiology and pathophysiology will facilitate early diagnosis and treatments to improve prognosis.
Literature
1.
Aune TM, Crooke PS 3rd, Patrick AE, Tossberg JT, Olsen NJ, Spurlock CF 3rd (2017) Expression of long non-coding RNAs in autoimmunity and linkage to enhancer function and autoimmune disease risk genetic variants. J Autoimmun 81:99–109PubMedPubMedCentral
2.
Bao Y, Cao X (2016) Epigenetic control of B cell development and B-cell-related immune disorders. Clin Rev Allergy Immunol 50:301–311PubMed
3.
Messina N, Fulford T, O'Reilly L, Loh WX, Motyer JM, Ellis D, McLean C et al (2016) The NF-kappaB transcription factor RelA is required for the tolerogenic function of Foxp3(+) regulatory T cells. J Autoimmun 70:52–62PubMed
4.
Saldana JI, Solanki A, Lau CI, Sahni H, Ross S, Furmanski AL, Ono M et al (2016) Sonic hedgehog regulates thymic epithelial cell differentiation. J Autoimmun 68:86–97PubMedPubMedCentral
5.
Shaabani N, Khairnar V, Duhan V, Zhou F, Tur RF, Haussinger D, Recher M et al (2016) Two separate mechanisms of enforced viral replication balance innate and adaptive immune activation. J Autoimmun 67:82–89PubMed
6.
Taraldsrud E, Fevang B, Aukrust P, Beiske KH, Floisand Y, Froland S, Rollag H et al (2014) Common variable immunodeficiency revisited: normal generation of naturally occurring dendritic cells that respond to Toll-like receptors 7 and 9. Clin Exp Immunol 175:439–448PubMedPubMedCentral
7.
Taraldsrud E, Fevang B, Jorgensen SF, Moltu K, Hilden V, Tasken K, Aukrust P et al (2017) Defective IL-4 signaling in T cells defines severe common variable immunodeficiency. J Autoimmun 81:110–119PubMed
8.
Vignesh P, Rawat A, Singh S (2017) An update on the use of immunomodulators in primary Immunodeficiencies. Clin Rev Allergy Immunol 52:287–303PubMed
9.
Wong GK, Heather JM, Barmettler S, Cobbold M (2017) Immune dysregulation in immunodeficiency disorders: the role of T-cell receptor sequencing. J Autoimmun 80:1–9PubMed
10.
11.
Marschall K, Hoernes M, Bitzenhofer-Gruber M, Jandus P, Duppenthaler A, Wuillemin WA, Rischewski J et al (2015) The Swiss National Registry for primary immunodeficiencies: report on the first 6 years’ activity from 2008 to 2014. Clin Exp Immunol 182:45–50PubMedPubMedCentral
12.
Gathmann B, Grimbacher B, Beaute J, Dudoit Y, Mahlaoui N, Fischer A, Knerr V et al (2009) The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008. Clin Exp Immunol 157(Suppl 1):3–11PubMedPubMedCentral
13.
Boyle JM, Buckley RH (2007) Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol 27:497–502PubMed
14.
Ward C, Lucas M, Piris J, Collier J, Chapel H (2008) Abnormal liver function in common variable immunodeficiency disorders due to nodular regenerative hyperplasia. Clin Exp Immunol 153:331–337PubMedPubMedCentral
15.
Fukushima K, Ueno Y, Kanegane H, Yamagiwa Y, Inoue J, Kido O, Nagasaki F et al (2008) A case of severe recurrent hepatitis with common variable immunodeficiency. Hepatol Res 38:415–420PubMed
16.
Daniels JA, Torbenson M, Vivekanandan P, Anders RA, Boitnott JK (2009) Hepatitis in common variable immunodeficiency. Hum Pathol 40:484–488PubMed
17.
Macura-Biegun A, Kowalczyk D (2002) Common variable immunodeficiency concomitant with liver cirrhosis—case report. Przegl Lek 59:472–473PubMed
18.
Cunningham-Rundles C, Bodian C (1999) Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 92:34–48PubMed
19.
Graziano V, Pecoraro A, Mormile I, Quaremba G, Genovese A, Buccelli C, Paternoster M et al (2017) Delay in diagnosis affects the clinical outcome in a cohort of cvid patients with marked reduction of iga serum levels. Clin Immunol 180:1–4PubMed
20.
Edgar JD, Buckland M, Guzman D, Conlon NP, Knerr V, Bangs C, Reiser V et al (2014) The United Kingdom primary immune deficiency (UKPID) registry: report of the first 4 years’ activity 2008-2012. Clin Exp Immunol 175:68–78PubMed
21.
Bonilla FA, Barlan I, Chapel H, Costa-Carvalho BT, Cunningham-Rundles C, de la Morena MT, Espinosa-Rosales FJ et al (2016) International consensus document (ICON): common variable immunodeficiency disorders. J Allergy Clin Immunol Pract 4:38–59PubMed
22.
Ishimura M, Takada H, Doi T, Imai K, Sasahara Y, Kanegane H, Nishikomori R et al (2011) Nationwide survey of patients with primary immunodeficiency diseases in Japan. J Clin Immunol 31:968–976PubMed
23.
group. CTFPs. The French national registry of primary immunodeficiency diseases (2010) Clin Immunol 135:264–272
24.
Xiao X, Miao Q, Chang C, Gershwin ME, Ma X (2014) Common variable immunodeficiency and autoimmunity—an inconvenient truth. Autoimmun Rev 13:858–864PubMed
25.
Resnick ES, Moshier EL, Godbold JH, Cunningham-Rundles C (2012) Morbidity and mortality in common variable immune deficiency over 4 decades. Blood 119:1650–1657PubMedPubMedCentral
26.
Gathmann B, Mahlaoui N, Gerard L, Oksenhendler E, Warnatz K, Schulze I, Kindle G et al (2014) Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol 134:116–126PubMed
27.
Cunningham-Rundles C, Maglione PJ (2012) Common variable immunodeficiency. J Allergy Clin Immunol 129:1425–1426.e1423PubMed
28.
Tseng CW, Lai KL, Chen DY, Lin CH, Chen HH (2015) The incidence and prevalence of common variable immunodeficiency disease in Taiwan, A population-based study. PLoS One 10:e0140473PubMedPubMedCentral
29.
Oksenhendler E, Gerard L, Fieschi C, Malphettes M, Mouillot G, Jaussaud R, Viallard JF et al (2008) Infections in 252 patients with common variable immunodeficiency. Clin Infect Dis 46:1547–1554PubMed
30.
Groth C, Drager R, Warnatz K, Wolff-Vorbeck G, Schmidt S, Eibel H, Schlesier M et al (2002) Impaired up-regulation of CD70 and CD86 in naive (CD27-) B cells from patients with common variable immunodeficiency (CVID). Clin Exp Immunol 129:133–139PubMedPubMedCentral
31.
van de Ven AA, Compeer EB, van Montfrans JM, Boes M (2011) B-cell defects in common variable immunodeficiency: BCR signaling, protein clustering and hardwired gene mutations. Crit Rev Immunol 31:85–98PubMed
32.
Foerster C, Voelxen N, Rakhmanov M, Keller B, Gutenberger S, Goldacker S, Thiel J et al (2010) B cell receptor-mediated calcium signaling is impaired in B lymphocytes of type Ia patients with common variable immunodeficiency. J Immunol 184:7305–7313PubMed
33.
Ahn S, Cunningham-Rundles C (2009) Role of B cells in common variable immune deficiency. Expert Rev Clin Immunol 5:557–564PubMedPubMedCentral
34.
Sharifi L, Mirshafiey A, Rezaei N, Azizi G, Magaji Hamid K, Amirzargar AA, Asgardoon MH et al (2016) The role of toll-like receptors in B-cell development and immunopathogenesis of common variable immunodeficiency. Expert Rev Clin Immunol 12:195–207PubMed
35.
Yu JE, Knight AK, Radigan L, Marron TU, Zhang L, Sanchez-Ramon S, Cunningham-Rundles C (2009) Toll-like receptor 7 and 9 defects in common variable immunodeficiency. J Allergy Clin Immunol 124:349-356–e341-343
36.
Yu JE, Zhang L, Radigan L, Sanchez-Ramon S, Cunningham-Rundles C (2012) TLR-mediated B cell defects and IFN-alpha in common variable immunodeficiency. J Clin Immunol 32:50–60PubMed
37.
Ochtrop ML, Goldacker S, May AM, Rizzi M, Draeger R, Hauschke D, Stehfest C et al (2011) T and B lymphocyte abnormalities in bone marrow biopsies of common variable immunodeficiency. Blood 118:309–318PubMed
38.
Vodjgani M, Aghamohammadi A, Samadi M, Moin M, Hadjati J, Mirahmadian M, Parvaneh N et al (2007) Analysis of class-switched memory B cells in patients with common variable immunodeficiency and its clinical implications. J Investig Allergol Clin Immunol 17:321–328PubMed
39.
Sanchez-Ramon S, Radigan L, Yu JE, Bard S, Cunningham-Rundles C (2008) Memory B cells in common variable immunodeficiency: clinical associations and sex differences. Clin Immunol 128:314–321PubMedPubMedCentral
40.
Ko J, Radigan L, Cunningham-Rundles C (2005) Immune competence and switched memory B cells in common variable immunodeficiency. Clin Immunol 116:37–41PubMed
41.
Haymore BR, Mikita CP, Tsokos GC (2008) Common variable immune deficiency (CVID) presenting as an autoimmune disease: role of memory B cells. Autoimmun Rev 7:309–312PubMed
42.
Wehr C, Kivioja T, Schmitt C, Ferry B, Witte T, Eren E, Vlkova M et al (2008) The EUROclass trial: defining subgroups in common variable immunodeficiency. Blood 111:77–85PubMed
43.
Piqueras B, Lavenu-Bombled C, Galicier L, Bergeron-van der Cruyssen F, Mouthon L, Chevret S, Debre P et al (2003) Common variable immunodeficiency patient classification based on impaired B cell memory differentiation correlates with clinical aspects. J Clin Immunol 23:385–400PubMed
44.
Warnatz K, Denz A, Drager R, Braun M, Groth C, Wolff-Vorbeck G, Eibel H et al (2002) Severe deficiency of switched memory B cells (CD27(+)IgM(-)IgD(-)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease. Blood 99:1544–1551PubMed
45.
Azizi G, Abolhassani H, Asgardoon MH, Alinia T, Yazdani R, Mohammadi J, Rezaei N et al (2017) Autoimmunity in common variable immunodeficiency: epidemiology, pathophysiology and management. Expert Rev Clin Immunol 13:101–115PubMed
46.
Azizi G, Rezaei N, Kiaee F, Tavakolinia N, Yazdani R, Mirshafiey A, Aghamohammadi A (2016) T-cell abnormalities in common variable immunodeficiency. J Investig Allergol Clin Immunol 26:233–243PubMed
47.
Berron-Ruiz L, Lopez-Herrera G, Vargas-Hernandez A, Santos-Argumedo L, Lopez-Macias C, Isibasi A, Segura-Mendez NH et al (2016) Impaired selective cytokine production by CD4(+) T cells in common variable immunodeficiency associated with the absence of memory B cells. Clin Immunol 166-167:19–26PubMed
48.
Yu GP, Chiang D, Song SJ, Hoyte EG, Huang J, Vanishsarn C, Nadeau KC (2009) Regulatory T cell dysfunction in subjects with common variable immunodeficiency complicated by autoimmune disease. Clin Immunol 131:240–253PubMedPubMedCentral
49.
Chapel H, Lucas M, Lee M, Bjorkander J, Webster D, Grimbacher B, Fieschi C et al (2008) Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood 112:277–286PubMed
50.
Malphettes M, Gerard L, Carmagnat M, Mouillot G, Vince N, Boutboul D, Berezne A et al (2009) Late-onset combined immune deficiency: a subset of common variable immunodeficiency with severe T cell defect. Clin Infect Dis 49:1329–1338PubMed
51.
Yong PF, Workman S, Wahid F, Exley A, Webster AD, Ibrahim MA (2008) Selective deficits in blood dendritic cell subsets in common variable immunodeficiency and X-linked agammaglobulinaemia but not specific polysaccharide antibody deficiency. Clin Immunol 127:34–42PubMed
52.
Bayry J, Lacroix-Desmazes S, Kazatchkine MD, Galicier L, Lepelletier Y, Webster D, Levy Y et al (2004) Common variable immunodeficiency is associated with defective functions of dendritic cells. Blood 104:2441–2443PubMed
53.
Ochs HD (2014) Common variable immunodeficiency (CVID): new genetic insight and unanswered questions. Clin Exp Immunol 178(Suppl 1):5–6PubMedPubMedCentral
54.
Bogaert DJ, Dullaers M, Lambrecht BN, Vermaelen KY, De Baere E, Haerynck F (2016) Genes associated with common variable immunodeficiency: one diagnosis to rule them all? J Med Genet 53:575–590PubMed
55.
Kotlarz D, Zietara N, Milner JD, Klein C (2014) Human IL-21 and IL-21R deficiencies: two novel entities of primary immunodeficiency. Curr Opin Pediatr 26:704–712PubMed
56.
Abolhassani H, Wang N, Aghamohammadi A, Rezaei N, Lee YN, Frugoni F, Notarangelo LD et al (2014) A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency. J Allergy Clin Immunol 134:1375–1380PubMedPubMedCentral
57.
Sekinaka Y, Mitsuiki N, Imai K, Yabe M, Yabe H, Mitsui-Sekinaka K, Honma K, et al (2017) Common variable immunodeficiency caused by FANC mutations. J Clin Immunol 37:434–444PubMed
58.
59.
Li J, Wei Z, Li YR, Maggadottir SM, Chang X, Desai A, Hakonarson H (1860) Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches. Biochim Biophys Acta 2016:2656–2663
60.
Fernandez Romero DS, Juri MC, Paolini MV, Malbran A (2013) Common variable immunodeficiency. Epidemiology and clinical manifestations in 69 patients. Medicina B Aires 73:315–323PubMed
61.
Busse PJ, Farzan S, Cunningham-Rundles C (2007) Pulmonary complications of common variable immunodeficiency. Ann Allergy Asthma Immunol 98:1–8 quiz 8-11, 43 PubMed
62.
Atarod L, Raissi A, Aghamohammadi A, Farhoudi A, Khodadad A, Moin M, Pourpak Z et al (2003) A review of gastrointestinal disorders in patients with primary antibody immunodeficiencies during a 10-year period (1990-2000), in children hospital medical center. Iran J Allergy Asthma Immunol 2:75–79PubMed
63.
Kralickova P, Mala E, Vokurkova D, Krcmova I, Pliskova L, Stepanova V, Bartos V et al (2014) Cytomegalovirus disease in patients with common variable immunodeficiency: three case reports. Int Arch Allergy Immunol 163:69–74PubMed
64.
Woodward J, Gkrania-Klotsas E, Kumararatne D (2017) Chronic norovirus infection and common variable immunodeficiency. Clin Exp Immunol 188:363–370
65.
Herrera-Sanchez DA, Castilla-Rodriguez JL, Castrejon-Vazquez MI, Vargas-Camano ME, Medina-Torres EA, Blancas-Galicia L, Espinosa-Padilla SE (2015) Infection due to Mycobacterium bovis in common variable immunodeficiency. Rev Alerg Mex 62:75–82PubMed
66.
Milligan KL, Jain AK, Garrett JS, Knutsen AP (2012) Gastric ulcers due to varicella-zoster reactivation. Pediatrics 130:e1377–e1381PubMed
67.
Cunningham-Rundles C (2008) Autoimmune manifestations in common variable immunodeficiency. J Clin Immunol 28(Suppl 1):S42–S45PubMedPubMedCentral
68.
Agarwal S, Cunningham-Rundles C (2009) Autoimmunity in common variable immunodeficiency. Curr Allergy Asthma Rep 9:347–352PubMedPubMedCentral
69.
Martin-Blondel G, Camara B, Selves J, Robic MA, Thebault S, Bonnet D, Alric L (2010) Etiology and outcome of liver granulomatosis: a retrospective study of 21 cases. Rev Med Interne 31:97–106PubMed
70.
Unger S, Seidl M, van Schouwenburg P, Rakhmanov M, Bulashevska A, Frede N, Grimbacher B et al (2017) TH1 phenotype of T follicular helper cells indicates an IFNgamma-associated immune dysregulation in CD21low CVID patients. J Allergy Clin Immunol
71.
Patuzzo G, Barbieri A, Tinazzi E, Veneri D, Argentino G, Moretta F, Puccetti A et al (2016) Autoimmunity and infection in common variable immunodeficiency (CVID). Autoimmun Rev 15:877–882PubMed
72.
Keller B, Stumpf I, Strohmeier V, Usadel S, Verhoeyen E, Eibel H, Warnatz K (2017) High SYK expression drives constitutive activation of CD21low B cells. J Immunol 198:4285–4292PubMed
73.
Wehr C, Eibel H, Masilamani M, Illges H, Schlesier M, Peter HH, Warnatz K (2004) A new CD21low B cell population in the peripheral blood of patients with SLE. Clin Immunol 113:161–171PubMed
74.
Chua I, Quinti I, Grimbacher B (2008) Lymphoma in common variable immunodeficiency: interplay between immune dysregulation, infection and genetics. Curr Opin Hematol 15:368–374PubMed
75.
Abolhassani H, Aghamohammadi A, Imanzadeh A, Mohammadinejad P, Sadeghi B, Rezaei N (2012) Malignancy phenotype in common variable immunodeficiency. J Investig Allergol Clin Immunol 22:133–134PubMed
76.
Reichenberger F, Wyser C, Gonon M, Cathomas G, Tamm M (2001) Pulmonary mucosa-associated lymphoid tissue lymphoma in a patient with common variable immunodeficiency syndrome. Respiration 68:109–112PubMed
77.
da Silva SP, Resnick E, Lucas M, Lortan J, Patel S, Cunningham-Rundles C, Gatter K et al (2011) Lymphoid proliferations of indeterminate malignant potential arising in adults with common variable immunodeficiency disorders: unusual case studies and immunohistological review in the light of possible causative events. J Clin Immunol 31:784–791PubMedPubMedCentral
78.
Cunningham-Rundles C, Cooper DL, Duffy TP, Strauchen J (2002) Lymphomas of mucosal-associated lymphoid tissue in common variable immunodeficiency. Am J Hematol 69:171–178PubMed
79.
Gangemi S, Allegra A, Musolino C (2015) Lymphoproliferative disease and cancer among patients with common variable immunodeficiency. Leuk Res 39:389–396PubMed
80.
Quinti I, Agostini C, Tabolli S, Brunetti G, Cinetto F, Pecoraro A, Spadaro G (2012) Malignancies are the major cause of death in patients with adult onset common variable immunodeficiency. Blood 120:1953–1954PubMed
81.
Dhalla F, da Silva SP, Lucas M, Travis S, Chapel H (2011) Review of gastric cancer risk factors in patients with common variable immunodeficiency disorders, resulting in a proposal for a surveillance programme. Clin Exp Immunol 165:1–7PubMedPubMedCentral
82.
Gemeinhardt M, Turck J, Piper B, Helmberger T, Nerlich A, Schepp W (2012) Adenocarcinoma of the stomach and neuroendocrine carcinoma of the colon in a 45-year-old male patient suffering from common variable immunodeficiency (CVID) and ulcerative colitis. Z Gastroenterol 50:1292–1295PubMed
83.
Ardeniz O, Cunningham-Rundles C (2009) Granulomatous disease in common variable immunodeficiency. Clin Immunol 133:198–207PubMedPubMedCentral
84.
Morimoto Y, Routes JM (2005) Granulomatous disease in common variable immunodeficiency. Curr Allergy Asthma Rep 5:370–375PubMed
85.
Verbsky JW, Routes JM (2014) Sarcoidosis and common variable immunodeficiency: similarities and differences. Semin Respir Crit Care Med 35:330–335PubMed
86.
Agarwal S, Mayer L (2013) Diagnosis and treatment of gastrointestinal disorders in patients with primary immunodeficiency. Clin Gastroenterol Hepatol 11:1050–1063PubMedPubMedCentral
87.
Daniels JA, Lederman HM, Maitra A, Montgomery EA (2007) Gastrointestinal tract pathology in patients with common variable immunodeficiency (CVID): a clinicopathologic study and review. Am J Surg Pathol 31:1800–1812PubMed
88.
Goel A, Elias JE, Eapen CE, Ramakrishna B, Elias E (2014) Idiopathic non-cirrhotic intrahepatic portal hypertension (NCIPH)-newer insights into pathogenesis and emerging newer treatment options. J Clin Exp Hepatol 4:247–256PubMedPubMedCentral
89.
Gandhi K, Parikh P, Aronow WS, Desai H, Amin H, Sharma M, Rubinstein A (2010) A case of explosive progression of hepatocellular carcinoma in a patient with common variable immunodeficiency (CVID). J Gastrointest Cancer 41:281–284PubMed
90.
Malamut G, Ziol M, Suarez F, Beaugrand M, Viallard JF, Lascaux AS, Verkarre V et al (2008) Nodular regenerative hyperplasia: the main liver disease in patients with primary hypogammaglobulinemia and hepatic abnormalities. J Hepatol 48:74–82PubMed
91.
Fuss IJ, Friend J, Yang Z, He JP, Hooda L, Boyer J, Xi L et al (2013) Nodular regenerative hyperplasia in common variable immunodeficiency. J Clin Immunol 33:748–758PubMedPubMedCentral
92.
Manas MD, Marchan E, Gijon J, Martin F (2006) Nodular regenerative hyperplasia of the liver in a patient with common variable immunodeficiency. An Med Interna 23:395–397PubMed
93.
Conley ME, Park CL, Douglas SD (1986) Childhood common variable immunodeficiency with autoimmune disease. J Pediatr 108:915–922PubMed
94.
Hausser C, Virelizier JL, Buriot D, Griscelli C (1983) Common variable hypogammaglobulinemia in children. Clinical and immunologic observations in 30 patients. Am J Dis Child 137:833–837PubMed
95.
Martire B, Gentile A, Francavilla R, De Santis A, De Mattia D (2005) Successful treatment with cyclosporine A of HCV-driven chronic liver disease mimicking autoimmune hepatitis in a patient with common variable immunodeficiency. Immunopharmacol Immunotoxicol 27:535–543PubMed
96.
Mahdavinia M, Mirsaeidi M, Bishehsari F, McGrath K (2015) Primary sclerosing cholangitis in common variable immune deficiency. Allergol Int 64:187–189PubMedPubMedCentral
97.
Holmes SN, Condliffe A, Griffiths W, Baxendale H, Kumararatne DS (2015) Familial hepatopulmonary syndrome in common variable immunodeficiency. J Clin Immunol 35:302–304PubMed
98.
Schouten JN, Verheij J, Seijo S (2015) Idiopathic non-cirrhotic portal hypertension: a review. Orphanet J Rare Dis 10:67PubMedPubMedCentral
99.
Webb GJ, Hirschfield GM (2016) Using GWAS to identify genetic predisposition in hepatic autoimmunity. J Autoimmun 66:25–39PubMed
100.
Conley ME, Notarangelo LD, Etzioni A (1999) Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol 93:190–197PubMed
101.
Chapel H (2016) Common variable immunodeficiency disorders (CVID)—diagnoses of exclusion, especially combined immune defects. J Allergy Clin Immunol Pract 4:1158–1159PubMed
102.
Bertinchamp R, Gerard L, Boutboul D, Malphettes M, Fieschi C, Oksenhendler E (2016) Exclusion of patients with a severe T-cell defect improves the definition of common variable immunodeficiency. J Allergy Clin Immunol Pract 4:1147–1157PubMed
103.
Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L et al (2007) Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 120:776–794PubMedPubMedCentral
104.
Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C et al (2015) Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for primary immunodeficiency 2015. J Clin Immunol 35:696–726PubMedPubMedCentral
105.
Chapel H, Cunningham-Rundles C (2009) Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions. Br J Haematol 145:709–727PubMedPubMedCentral
106.
Ameratunga R, Woon ST, Gillis D, Koopmans W, Steele R (2013) New diagnostic criteria for common variable immune deficiency (CVID), which may assist with decisions to treat with intravenous or subcutaneous immunoglobulin. Clin Exp Immunol 174:203–211PubMedPubMedCentral
107.
Ameratunga R, Gillis D, Steele R (2016) Diagnostic criteria for common variable immunodeficiency disorders. J Allergy Clin Immunol Pract 4:1017–1018PubMed
108.
Ameratunga R, Brewerton M, Slade C, Jordan A, Gillis D, Steele R, Koopmans W et al (2014) Comparison of diagnostic criteria for common variable immunodeficiency disorder. Front Immunol 5:415PubMedPubMedCentral
109.
Al Kindi M, Mundy J, Sullivan T, Smith W, Kette F, Smith A, Heddle R et al (2012) Utility of peripheral blood B cell subsets analysis in common variable immunodeficiency. Clin Exp Immunol 167:275–281PubMedPubMedCentral
110.
Szablewski V, Rene C, Costes V (2015) Indolent cytotoxic T cell lymphoproliferation associated with nodular regenerative hyperplasia: a common liver lesion in the context of common variable immunodeficiency disorder. Virchows Arch 467:733–740
111.
Ravindran J, Gillis D, Rowland R, Heddle R (1995) Common variable immunodeficiency associated with nodular regenerative hyperplasia of the liver. Aust NZ J Med 25:741
112.
Kasztalska K, Ciebiada M, Cebula-Obrzut B, Gorski P (2011) Intravenous immunoglobulin replacement therapy in the treatment of patients with common variable immunodeficiency disease: an open-label prospective study. Clin Drug Investig 31:299–307PubMed
113.
Albin S, Cunningham-Rundles C (2014) An update on the use of immunoglobulin for the treatment of immunodeficiency disorders. Immunotherapy 6:1113–1126PubMed
114.
Eijkhout HW, van Der Meer JW, Kallenberg CG, Weening RS, van Dissel JT, Sanders LA, Strengers PF et al (2001) The effect of two different dosages of intravenous immunoglobulin on the incidence of recurrent infections in patients with primary hypogammaglobulinemia. A randomized, double-blind, multicenter crossover trial. Ann Intern Med 135:165–174PubMed
115.
Stonebraker JS, Farrugia A, Gathmann B, Orange JS (2014) Modeling primary immunodeficiency disease epidemiology and its treatment to estimate latent therapeutic demand for immunoglobulin. J Clin Immunol 34:233–244PubMed
116.
Bjoro K, Haaland T, Skaug K, Froland SS (1999) The spectrum of hepatobiliary disease in primary hypogammaglobulinaemia. J Intern Med 245:517–524PubMed
117.
Wong GK, Goldacker S, Winterhalter C, Grimbacher B, Chapel H, Lucas M, Alecsandru D et al (2013) Outcomes of splenectomy in patients with common variable immunodeficiency (CVID): a survey of 45 patients. Clin Exp Immunol 172:63–72PubMedPubMedCentral
118.
Boursiquot JN, Gerard L, Malphettes M, Fieschi C, Galicier L, Boutboul D, Borie R et al (2013) Granulomatous disease in CVID: retrospective analysis of clinical characteristics and treatment efficacy in a cohort of 59 patients. J Clin Immunol 33:84–95PubMed
119.
Thatayatikom A, Thatayatikom S, White AJ (2005) Infliximab treatment for severe granulomatous disease in common variable immunodeficiency: a case report and review of the literature. Ann Allergy Asthma Immunol 95:293–300PubMed
120.
Malphettes M, Oksenhendler E, Galicier L, Fieschi C (2008) Granulomatous disease in common variable immunodeficiency. Rev Med Interne 29:28–32PubMed
121.
Franxman TJ, Howe LE, Baker JR Jr (2014) Infliximab for treatment of granulomatous disease in patients with common variable immunodeficiency. J Clin Immunol 34:820–827PubMed
122.
Chen Y, Cameron A (2013) Aspergillosis after liver transplantation in the context of common variable immunodeficiency: case report. Transpl Infect Dis 15:540–544PubMed
123.
Montalti R, Mocchegiani F, Vincenzi P, Svegliati Baroni G, Nicolini D, Vivarelli M (2014) Liver transplantation in patients with common variable immunodeficiency: a report of two cases. Ann Transplant 19:541–544PubMed
124.
Murakawa Y, Miyagawa-Hayashino A, Ogura Y, Egawa H, Okamoto S, Soejima Y, Kurosawa M et al (2012) Liver transplantation for severe hepatitis in patients with common variable immunodeficiency. Pediatr Transplant 16:E210–E216PubMed
125.
Smith MS, Webster AD, Dhillon AP, Dusheiko G, Boulton R, Savage K, Rolles K et al (1995) Orthotopic liver transplantation for chronic hepatitis in two patients with common variable immunodeficiency. Gastroenterology 108:879–884PubMed
126.
Rizzi M, Neumann C, Fielding AK, Marks R, Goldacker S, Thaventhiran J, Tarzi MD et al (2011) Outcome of allogeneic stem cell transplantation in adults with common variable immunodeficiency. J Allergy Clin Immunol 128:1371–1374.e1372PubMed
Metadata
Title
Common Variable Immunodeficiency and Liver Involvement
Authors
Junmin Song
Ana Lleo
Guo Xiang Yang
Weici Zhang
Christopher L. Bowlus
M. Eric Gershwin
Patrick S. C. Leung
Publication date
01-12-2018
Publisher
Springer US
Published in
Clinical Reviews in Allergy & Immunology / Issue 3/2018
Print ISSN: 1080-0549
Electronic ISSN: 1559-0267
DOI
https://doi.org/10.1007/s12016-017-8638-z

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