Lymphoma in common variable immunodeficiency: interplay between immune dysregulation, infection and genetics

Chua, Ignatius; Quinti, Isabella; Grimbacher, Bodo

doi:10.1097/moh.0b013e328302c7b6

Cited by 75 publications

(36 citation statements)

References 54 publications

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“…Pronađena je korelacija između serumskog nivoa IgM i razvoja poliklonalne limfocitne infiltracije ili limfoidne maligne bolesti (17). Pacijenti sa granulomatoznom bolešću imaju veći serumski nivo faktora tumorske nekroze alfa (TNF-a) u odnosu na pacijente bez granulomatoznih bolesti, što ukazuje na veći stepen proinflamatornih reakcija (19,20). Od svih oblika poliklonalne limfocitne infiltracije, intersticijalni pneumonitis ima najlošiju prognozu (njegova pojava smanjuje preživljavanje za 50%).…”

Section: Poliklonalna Limfocitna Infiltracija U Cvidunclassified

Obična Varijabilna Imunodeficijencija (Cvid)

Erić¹,

Đurđević-Banjac²

2018

SCEPED

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SažetakObična varijabilna imunodeficijencija (CVID) je primarni poremećaj imuniteta koga karakteriše smanjena sposobnost proizvodnje imunoglobulina. CVID ima incidenciju od 1:10.000 do 1: 200.000 (odnos muškog i ženskog pola je 1:1) i obično se javlja i dijagnostikuje iza desete godine života. Tačna patofiziologija ovog oboljenja je i dalje nejasna. CVID je povezan sa autoimunim poremećajima, granulomatoznim i gastrointestinalnim oboljenjima, ovi pacijenti imaju predispoziciju za razvoj malignih oboljenja, posebno non-Hodgkin limfoma. Pošto različiti organi i organski sistemi mogu biti zahvaćeni, svi klinički ljekari, posebno pedijatri, trebaju imati na umu ovo oboljenje, kada se sreću sa pacijentima koji imaju recidivirajuće infekcije koje mogu biti praćene autoimunim poremećajima.Ključne riječi: primarni poremećaji imuniteta, imunoglobulini, autoimuna oboljenja COMMON VARIABLE IMMUNODEFICIENCY (CVID) Želimir Erić, Biljana Đurđević-Banjac University Children's Hospital, University Clinical Centre of the Republic of Srpska Bosnia i Hercegovina AbstractCommon variable immunodeficiency (CVID) is an immunodeficiency disease characterized by diminished ability to produce immunoglobulins. CVID has an estimated incidence of 1:10.000 to 1:200.000 (male and female 1:1) and usually presents in the second and third decade, although it also has a peak of incidence in childhood. The exact pathophysiology remains unclear. CVID can be associated with autoimmune, granulomatous and gastrointestinal diseases and patients have a predisposition to malignancies (especially non-Hodgkin lymphoma). Since different organ systems can be affected, all clinicians need to be aware of this entity, especially when confronted with patients with recurrent infections and/or multiple autoimmune diseases.

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Section: Poliklonalna Limfocitna Infiltracija U Cvidunclassified

Obična Varijabilna Imunodeficijencija (Cvid)

Erić¹,

Đurđević-Banjac²

2018

SCEPED

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“…This manifests most frequently as splenomegaly, lymphadenopathy and interstitial lung disease, as described above. The relative risk of lymphoma in patients with CVID compared with the general population is in the range of 10-to 20-fold higher (7). Most of these are B-cell non-Hodgkin lymphoma, although Hodgkin lymphoma is sometimes seen.…”

Section: Clinical Features Of Cvidmentioning

confidence: 99%

“…Additional disorders observed include inflammatory bowel disease, vasculitides (some resembling systemic lupus erythematosus), and others. 1 Approximately 10% of patients with CVID have a lymphoproliferative disorder (7). This manifests most frequently as splenomegaly, lymphadenopathy and interstitial lung disease, as described above.…”

Section: Clinical Features Of Cvidmentioning

confidence: 99%

Common Variable Immunodeficiency

Bonilla

Geha

2009

Pediatr Res

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ABSTRACT:Common variable immunodeficiency is the most prevalent clinically significant antibody deficiency at all ages. The disorder is defined principally by characteristic infection susceptibility with hypogammaglobulinemia and impaired-specific antibody response. Several recent large registry-based studies have defined distinct phenotypic subtypes. Several studies have also correlated specific immunologic markers with these phenotypes. The biochemical or genetic abnormality in the majority of patients remains unknown. Recently, several molecular genetic lesions have been defined. Among these, mutations of inducible costimulator, and CD19, appear to be disease causing by themselves. These account for about 1% of cases. Other mutations or polymorphisms, such as in the human homolog of Escherichia coli MutS 5 (MSH5), and transmembrane activator and calcium mobilizing ligand interactor, seem to be disease associated in 5-10% of patients, but may require additional immunologic abnormalities for full expression of the phenotype, as unaffected heterozygotes have also been described. Clinical Features of CVIDCommon variable immunodeficiency (CVID) is a form of predominantly humoral primary immunodeficiency. Symptoms may begin at any time of life, including the extremes of both young and old age (1-3). Major characteristics include recurrent infections, principally bacterial and viral of the respiratory tract. In one recent French registry study (DEFI Study) of 252 patients, 95% had one or more of the following: bronchitis, sinusitis, and pneumonia. Not surprisingly, common bacterial pathogens such as Streptococcus pneumoniae and Hemophilus influenzae were most often isolated. Granulomatous or lymphocytic interstitial lung disease occurs in a subset of patients and may be associated with human herpesvirus 8 (4). Granulomas may also involve other organs and resemble sarcoid. Furthermore, in the DEFI study, 47% of patients had diarrhea (intermittent or chronic); Giardia, Salmonella, and Campylobacter were common isolates (2). Enteroviral intestinal infections may disseminate and cause meningoencephalitis.Autoimmune disease is common in CVID (5). One recent survey reviewed seven published studies comprising 831 patients altogether (6). The reported prevalences of autoimmune disease ranged from 17 to 50%, and it was present in 27% of the overall patient population. Immune thrombocytopenic purpura and autoimmune hemolytic anemia were by far the most common diagnoses, followed by aseptic nonerosive seronegative inflammatory arthritis. Additional disorders observed include inflammatory bowel disease, vasculitides (some resembling systemic lupus erythematosus), and others. 1 Approximately 10% of patients with CVID have a lymphoproliferative disorder (7). This manifests most frequently as splenomegaly, lymphadenopathy and interstitial lung disease, as described above. The relative risk of lymphoma in patients with CVID compared with the general population is in the range of 10-to 20-fold higher (7). Most of these are B-cell n...

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“…Risk of gastric cancer, especially gastric adenocarcinoma, may be increased by H. pylori infections and chromosomal radiosensitivity [177,179]. Chronic viral infections with CMV and human herpesvirus 8 may predispose CVID patients to develop NHL [176].…”

Section: Management Of Malignancymentioning

confidence: 99%

“…CVID patients are at higher risk of neoplasias (hematological or solid tumors) compared with normal population (over ten-times the risk) [176]. The most common type of malignancy is nonHodgkin's lymphoma (NHL), which is more likely to be of B-cell origin [177].…”

Section: Management Of Malignancymentioning

confidence: 99%