scholarly journals Involvement of miR-142 and miR-155 in Non-Infectious Complications of CVID

Molecules ◽  
2020 ◽  
Vol 25 (20) ◽  
pp. 4760
Author(s):  
Giuliana Amato ◽  
Federica Vita ◽  
Paolina Quattrocchi ◽  
Paola Lucia Minciullo ◽  
Giovanni Pioggia ◽  
...  
Keyword(s):  
Common Variable Immunodeficiency ◽  
Bacterial Infections ◽  
Infectious Complications ◽  
Knock Out ◽  
Scientific Databases ◽  
Clinical Complications ◽  
Mesh Terms ◽  
Bibliographic Search ◽  
Epigenetic Phenomenon ◽  
Common Variable

Background and objectives: Common variable immunodeficiency (CVID) is the most prevalent antibody impairment. It is characterized by failure in immunoglobulin and protective antibody generation and defined by an increased tendency toward bacterial infections, autoimmunity, and malignancy. Most CVID diagnoses do not follow a classical Mendelian pattern of inheritance. In recent years, CVID has been considered an epigenetic phenomenon in the majority of cases, overtaking previous monogenetic and/or polygenetic theories. The aim of this study was to review the role of microRNAs (miRNAs) in CVID, focusing on the involvement of the same miRNAs in various non-infectious clinical complications of CVID, mainly autoimmunity and/or cancer. Materials and Methods: A bibliographic search of the scientific literature was carried out independently by two researchers in scientific databases and search engines. The MeSH terms “microRNAs” and “common variable immunodeficiency” were used. All research articles from inception to May 2020 were considered. Results: The literature data showed the involvement of two miRNAs in primary immunodeficiency: miR-142 and miR-155. Both of these miRNAs have been investigated through mice models, in which miR-142 and miR-155 were deleted. These knock-out (KO) mice models showed phenotypic analogies to CVID patients with hypogammaglobulinemia, adaptive immunodeficiency, polyclonal proliferation, lung disease, and enteric inflammation. miR-142 and miR-155 have been found to be involved in the following autoimmune and neoplastic clinical complications of CVID: Gastric cancer, gastric mucosa-associated lymphoid tissue (MALT) lymphoma, natural killer/Tcell lymphoma (NKTCL), and immune thrombocytopenia. Conclusions: miR-142 and miR-155 deregulation leads to similar CVID phenotypesin KO mice models. Although no data are available on the involvement of these miRNAs in human CVID, their dysregulation has been detected in human CVID comorbidities. The literature data show that miRNA sequences in murine models are comparable to those in humans; therefore, miR-142 and miR-155 involvement in human CVID could be hypothesized.

scholarly journals Oxidative stress in common variable immunodeficiency

2021 ◽  
Vol 19 ◽  
pp. 205873922110024
Author(s):  
Sevgen Tanir Basaranoglu ◽  
Sukru Cekic ◽  
Emine Kirhan ◽  
Melahat Dirican ◽  
Sara S. Kilic
Keyword(s):  
Oxidative Stress ◽  
Common Variable Immunodeficiency ◽  
Chronic Inflammatory Demyelinating Polyneuropathy ◽  
Infectious Complications ◽  
Clinical Syndrome ◽  
University Hospital ◽  
Unknown Etiology ◽  
Healthy Controls ◽  
Oxidative Stress Biomarkers ◽  
Common Variable

Common variable immunodeficiency (CVID) is a heterogenous group of immunologic disorders of unknown etiology. Alterations of the normal cellular balance due to an increase in reactive oxygen species and/or decrease in antioxidant defense may lead to increased oxidative stress. We aimed to evaluate the levels of oxidative stress biomarkers in patients with CVID who had different presentations. We investigated the serum catalase (CAT), erythrocyte superoxide dismutase (SOD), erythrocyte reduced glutathione as antioxidants and serum malondialdehyde levels as lipid peroxidation marker in patients with CVID in Uludag University Hospital Department of Pediatric Allergy and Immunology’s outpatient clinics. In the analysis, there were 21 patients and 27 matched healthy controls. The median levels of CAT in patients with CVID was significantly lower than in healthy controls ( p = 0.04). Among the patients with CVID, 19% had autoimmune disease, one had Sjögren’s syndrome, one had autoimmune alopecia, one had juvenile rheumatoid arthritis, and one had chronic inflammatory demyelinating polyneuropathy. Patients with autoimmune complications had significantly lower CAT levels compared to the ones without autoimmune diseases ( p = 0.03). The patients without non-infectious complications (NICs) had lower SOD levels than the patients with NICs ( p = 0.05). The analysis of oxidative stress markers in the patients with CVID suggested a series of abnormalities in the anti-oxidant system. The clinical syndrome associations may be a useful tool for future studies to set prediction markers for the prognosis of patients with CVID.

Modulation of the Interleukin-21 Pathway with Interleukin-4 Distinguishes Common Variable Immunodeficiency Patients with More Non-infectious Clinical Complications

2017 ◽  
Vol 38 (1) ◽  
pp. 45-55 ◽  
Author(s):  
Marylin Desjardins ◽  
Marianne Béland ◽  
Marieme Dembele ◽  
Duncan Lejtenyi ◽  
Jean-Phillipe Drolet ◽  
...  
Keyword(s):  
Common Variable Immunodeficiency ◽  
Interleukin 4 ◽  
Clinical Complications ◽  
Interleukin 21 ◽  
Common Variable

Granulomatous lymphocytic interstitial lung disease as a complication of common variable immunodeficiency

2021 ◽  
Vol 31 (6) ◽  
pp. 816-821
Author(s):  
Alexandr V. Averyanov ◽  
Anastasia S. Perkina
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Common Variable Immunodeficiency ◽  
Clinical Case ◽  
Infectious Complications ◽  
Pathological Process ◽  
Malignant Neoplasms ◽  
Recurrent Infections ◽  
Autoimmune Conditions ◽  
Common Variable

Common variable immunodeficiency (CVID) is a rare immunodeficiency, the classic manifestation being recurrent infections. Other lesions are often found in CVID patients, such as malignant neoplasms, autoimmune conditions caused by abnormal cellular immunity, in addition to infectious complications. Usually, the pathological process involves the lungs. This article presents a clinical case of a patient with CVID complicated by granulomatous lymphocytic interstitial lung disease.

scholarly journals Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Jan Stuchlý ◽  
Veronika Kanderová ◽  
Marcela Vlková ◽  
Ivana Heřmanová ◽  
Lucie Slámová ◽  
...  
Keyword(s):  
T Cells ◽  
B Cells ◽  
Common Variable Immunodeficiency ◽  
Cd4 T Cells ◽  
Genetic Background ◽  
Color Flow ◽  
Phenotypic Profile ◽  
Clinical Complications ◽  
T Cell Phenotypes ◽  
Common Variable

Abstract Common variable immunodeficiency (CVID) is a heterogeneous group of diseases. Our aim was to define sub-groups of CVID patients with similar phenotypes and clinical characteristics. Using eight-color flow cytometry, we analyzed both B- and T-cell phenotypes in a cohort of 88 CVID patients and 48 healthy donors. A hierarchical clustering of probability binning “bins” yielded a separate cluster of 22 CVID patients with an abnormal phenotype. We showed coordinated proportional changes in naïve CD4+ T-cells (decreased), intermediate CD27− CD28+ CD4+ T-cells (increased) and CD21low B-cells (increased) that were stable for over three years. Moreover, the lymphocytes’ immunophenotype in this patient cluster exhibited features of profound immunosenescence and chronic activation. Thrombocytopenia was only found in this cluster (36% of cases, manifested as Immune Thrombocytopenia (ITP) or Evans syndrome). Clinical complications more frequently found in these patients include lung fibrosis (in 59% of cases) and bronchiectasis (55%). The degree of severity of these symptoms corresponded to more deviation from normal levels with respect to CD21low B-cells, naïve CD4+ and CD27− CD28+ CD4+ T-cells. Next-generation sequencing did not reveal any common genetic background. We delineate a subgroup of CVID patients with activated and immunosenescent immunophenotype of lymphocytes and distinct set of clinical complications without common genetic background.

scholarly journals Clinical and Immunological Features of 65 Iranian Patients with Common Variable Immunodeficiency

2005 ◽  
Vol 12 (7) ◽  
pp. 825-832 ◽  
Author(s):  
Asghar Aghamohammadi ◽  
Abolhasan Farhoudi ◽  
Mostafa Moin ◽  
Nima Rezaei ◽  
Ali Kouhi ◽  
...  
Keyword(s):  
Otitis Media ◽  
Common Variable Immunodeficiency ◽  
Bacterial Infections ◽  
Diagnostic Delay ◽  
Primary Immunodeficiency Disease ◽  
Serum Immunoglobulin ◽  
Recurrent Infections ◽  
Baseline Serum ◽  
Common Variable

ABSTRACT Common variable immunodeficiency (CVID) is a primary immunodeficiency disease characterized by hypogammaglobulinemia and recurrent bacterial infections. The records of 65 patients with CVID (37 males and 28 females) in the age range of 24 to 537 months were reviewed. By the year 2003, 11 patients had died and seven patients could not be located. The total follow-up period was 221 patient-years. The median diagnostic delay (time between onset and diagnosis) in our patient group was 60 months. At the time of diagnosis, the baseline serum immunoglobulin G (IgG), IgM, and IgA levels were below the level normal for the patients' age; the medians for this group were 120, 10, and 0 mg/dl, respectively. All of the patients presented with infectious diseases at the time of onset, the most common of which were otitis media, diarrhea, pneumonia, and sinusitis. Acute and recurrent infections were also found in almost all of the patients, particularly involving respiratory and gastrointestinal systems. The most common infections, before diagnosis and during follow-up, were pneumonia, acute diarrhea, acute sinusitis, and otitis media. CVID should be considered in any patient with a history of recurrent infections and decreased levels of all serum immunoglobulin isotypes.

scholarly journals Case Report of Heart Transplantation for Giant Cell Myocarditis in a Patient with Common Variable Immunodeficiency

2021 ◽  
Author(s):  
Thomas A Franzon ◽  
Anna Kovalszki ◽  
Raja Rabah ◽  
John M Nicklas
Keyword(s):  
Heart Transplantation ◽  
Giant Cell ◽  
Organ Transplantation ◽  
Common Variable Immunodeficiency ◽  
Solid Organ Transplantation ◽  
Infectious Complications ◽  
Solid Organ ◽  
Giant Cell Myocarditis ◽  
Common Variable

Abstract Background Solid organ transplantation in patients with common variable immunodeficiency (CVID) is controversial due to the risk for severe and recurrent infections. Determining transplantation candidacy in CVID patients is further complicated by the presence of CVID-related noninfectious complications that can reduce overall survival and also recur in the transplanted organ. Data regarding solid organ transplantation in patients with CVID is limited, particularly in heart transplantation. Case Summary A 32 year-old female with CVID presented with new heart failure after 3 months of dyspnea on exertion. Her echocardiogram showed severe global systolic dysfunction with an ejection fraction of approximately 10%, and her right heart catheterization revealed severe biventricular pressure overload and severely reduced cardiac output. Endomyocardial biopsy revealed giant cells and mononuclear infiltrate consistent with giant cell myocarditis. Despite medical management, she developed progressive cardiogenic shock and underwent uncomplicated orthotopic heart transplantation on hospital day 38. After two years of follow up, she has had no major infectious complications and continues to have normal graft function with no recurrence of giant cell myocarditis. Conclusion We report a case of successful heart transplantation for giant cell myocarditis in a patient with CVID, with no major infectious complications after 2 years of follow up. CVID should not be considered an absolute contraindication for heart transplantation.

scholarly journals Chitotriosidase enzyme activity: is this a possible chronic inflammation marker in children with common variable immunodeficiency and early atherosclerosis?

2017 ◽  
Vol 54 (6) ◽  
pp. 636-643
Author(s):  
Elif Azarsız ◽  
Neslihan Karaca ◽  
Erturk Levent ◽  
Necil Kutukculer ◽  
Eser Sozmen
Keyword(s):  
Common Variable Immunodeficiency ◽  
Intima Media Thickness ◽  
Primary Immunodeficiency Disorder ◽  
Amyloid A ◽  
Clinical Complications ◽  
Performance Indexes ◽  
Significant Difference ◽  
Chitotriosidase Activity ◽  
Common Variable

Background Common variable immunodeficiency is a rare clinically symptomatic primary immunodeficiency disorder which manifests a wide variability of symptoms, complications. Atherosclerosis in common variable immunodeficiency patients has not been investigated yet contrary to other severe clinical complications. We aimed to investigate the chitotriosidase enzyme's role as an inflammation and atherosclerosis marker in paediatric common variable immunodeficiency patients. Methods Common variable immunodeficiency patients (n = 24) and healthy controls (n = 23) evaluated for chitotriosidase activity with other inflammation markers (hsCRP, myeloperoxidase, serum amyloid A, ferritin), lipid profile and echocardiographic findings (carotid artery intima media thickness – cIMT, brachial artery flow-mediated vazodilatation – FMD%). Results In patients, the mean chitotriosidase activity (8.98 ± 6.28) was significantly higher than the controls (5.17 ± 3.42) ( P = 0.014). Chitotriosidase showed positive relation with hs-CRP ( P = 0.011) and SAA ( P = 0.011) but had no relation with ferritin ( P = 0.155), HDL ( P = 0.152) or LDL-cholesterol ( P = 0.380). Mean cIMT increased in patients compared with the controls ( P < 0.001) but did not show any relation with chitotriosidase ( P = 0.546). FMD% decreased in patients ( P < 0.001) also showing no relation with chitotriosidase ( P = 0.298). Ventricular myocardial performance indexes had no significant difference, but RVEF% decreased in patients ( P = 0.043). Conclusions High chitotriosidase activity in common variable immunodeficiency patients demonstrated in vivo the presence of activated macrophages indicating ongoing inflammation. Echocardiographic diastolic functional deficiency, increased cIMT and decreased FMD% may be accepted as early atherosclerotic findings, but none of them showed relationship with chitotriosidase activities.

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