British Society for Immunology/United Kingdom Primary Immunodeficiency Network consensus statement on managing non‐infectious complications of common variable immunodeficiency disorders

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.

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Common variable immunodeficiency – case report

Journal of Health Sciences ◽

10.17532/jhsci.2013.83 ◽

2013 ◽

Vol 3 (2) ◽

pp. 170-172

Author(s):

Emina Vukas ◽

Aida Dizdarević ◽

Senka Mesihović - Dinarević ◽

Adisa Čengić

Keyword(s):

T Cells ◽

Dendritic Cells ◽

Case Report ◽

Immune System ◽

Primary Immunodeficiency ◽

Common Variable Immunodeficiency ◽

Clinical Picture ◽

Clinical Signs ◽

Common Variable

Common variable immunodeficiency (CVID) or acquired hypogammaglobulinemia is the type of primary immunodeficiency. Deregulation of the immune system, leading to hypogammaglobulinemia, defective activation and proliferation of T cells and dendritic cells, and malfunction of the cytokines are observed in CVID. The clinical picture of CVID varies, any organ or system can be affected, therefore the diagnosis is often difficult and delayed and sometimes is not always possible. This article describes a twelve years old boy with all the clinical signs of immunodeficiency, as confi rmed by laboratory. The main treatment consists of life-long immunoglobulin substitution in intravenous or subcutaneous form.

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Monogenic Primary Immunodeficiency Disorder Associated with Common Variable Immunodeficiency and Autoimmunity

International Archives of Allergy and Immunology ◽

10.1159/000508817 ◽

2020 ◽

Vol 181 (9) ◽

pp. 706-714 ◽

Cited By ~ 1

Author(s):

Mohammad Hossein Asgardoon ◽

Gholamreza Azizi ◽

Reza Yazdani ◽

Mahsa Sohani ◽

Salar Pashangzadeh ◽

...

Keyword(s):

Primary Immunodeficiency ◽

Common Variable Immunodeficiency ◽

Primary Immunodeficiency Disorder ◽

Immunodeficiency Disorder ◽

Common Variable

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P081 The structure of the proteomic profile and gut microbiota in patients with primary immunodeficiency, common variable immunodeficiency and inflammatory bowel disease

Journal of Crohn s and Colitis ◽

10.1093/ecco-jcc/jjz203.210 ◽

2020 ◽

Vol 14 (Supplement_1) ◽

pp. S175-S176

Author(s):

A A Iakovlev ◽

A Volkov ◽

O Bashtovaya ◽

I Shcherbakova ◽

T Ghazudin ◽

...

Keyword(s):

Gut Microbiota ◽

Primary Immunodeficiency ◽

Common Variable Immunodeficiency ◽

Fold Increase ◽

Control Group ◽

Microbiological Analysis ◽

Colon Mucosa ◽

Hydrogen Breath Test ◽

E Coli ◽

Common Variable

Abstract Background Infringement of intestinal microbiota in patients with primary immunodeficiency (PID), common variable immunodeficiency (CVID) and ulcerative colitis (UC) continues to be studied. The aim of the research is a comprehensive study of the structure of gut microbiota and mucosal protein profile (MPP) in patients with PID, CVID and UC in different phases of the disease course. Methods The research included 15 patients with PID, 22 CVID and 46 UC (28 with relapse and 18 with persistent remission of the disease), control group—20 healthy volunteers. Estimation of gut microbiota was performed by bacteriological seeding, hydrogen breath test (HBT) with lactulose. Content of short-chain fatty acids (SCFAs) and microbial lipid markers (MLM) in faeces and colon mucosa was determined by gas–liquid chromatographic and gas chromatography–mass spectrometry (GC–MS). MPP was based on isoelectric focusing techniques (SDS–PAGE, 2DGE). Mass spectrograms were obtained using MALDI-TOF-MS/MS (Bruker, USA). Results HBT showed a 4.5-, 8- and 11-fold increase in hydrogen production on a 150th-minute study. SCFA showed a 6-, 9- and 11-fold decrease in propionic and butyric acids, mainly in patients with PID and UC: 0.2 + 0.1, 0.14 + 0.03 and 0.04 + 0.02 mg/g, respectively. Microbiological analysis showed a decrease in titers of E. coli, bifido- and lactobacilli on average 4.6 + 0.8 Lg. The conditionally pathogenic microflora was represented by E. coli, lactose-negative strains (n = 51,105/g) and haemolytic strains (n = 34,104/g, Proteus spp. (n = 48,105/g), Staphylococcus spp. (n = 29,105–6/g), Candida (n = 51,104–6/g) and Clostridium spp. (n = 38,104/g) in stool culture. MLN GS-MS results showed a 5.5-, 3- and 6-fold increase in total bacterial load in patients with PID, CVID and UC, respectively, which was represented by resident anaerobic microflora: Streptococcus mutants, Clostridium difficile, Candida albicans. Results of MPP (detection rate of 75% or more) of the colon mucosa in patients with PID were detected: 1, 2, 4 okkludin, kininogen 1, interleukin-1B, interleukin 8, B2-glycoprotein, heat shock protein 27, in patients with CVID—translational elongation factor, apolipoprotein C-III. In patients with UC—NF-kB, alipoprotein C-III, TNF-α, interleukin-2 and 8 were presented. Conclusion In patients with PID, CVID and UC markers of colon excess growth and significant decrease in SCFA are recorded during the relapse period. MPP in patients with PID, CVID and UC was characterised by proteins characteristic of inflammation, apoptosis, proliferation and proteins reflecting the activity of the autoimmune process. Patients with UC in the remission have recovery trend of gut microbiota, production of SCFA, disappearance of specific components of altered MPP.

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

Russian Pulmonology ◽

10.18093/0869-0189-2021-31-6-816-821 ◽

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.

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

Molecules ◽

10.3390/molecules25204760 ◽

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.

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Common variable immunodeficiency and isosporiasis: first report case

Revista da Sociedade Brasileira de Medicina Tropical ◽

10.1590/s0037-86822012000600023 ◽

2012 ◽

Vol 45 (6) ◽

pp. 768-769 ◽

Cited By ~ 5

Author(s):

Gisele Barbosa e Silva ◽

Karla Pereira Fernandes ◽

Gesmar Rodrigues Silva Segundo

Keyword(s):

Primary Immunodeficiency ◽

Common Variable Immunodeficiency ◽

Giardia Lamblia ◽

Opportunistic Infections ◽

Severe Case ◽

Negative Patient ◽

Immunological Status ◽

Laboratory Investigations ◽

Common Variable ◽

Hiv Negative

We report a severe case of diarrhea in a 62-year-old female HIV-negative patient from whom Giardia lamblia and Isospora belli were isolated. Because unusual and opportunistic infections should be considered as criteria for further analysis of immunological status, laboratory investigations led to a diagnosis of common variable immunodeficiency (CVID). This is the first reported case of isosporiasis in a patient with CVID and illustrates the importance of being aware of a possible link, particularly in relation to primary immunodeficiency.

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A Young Girl with Repeated Episodes of Pneumonia and Intermittednt Diarrhoea - The Primary Immunodeficiency Syndrome

Bangladesh Journal of Medicine ◽

10.3329/bjmed.v22i1.13597 ◽

2013 ◽

Vol 22 (1) ◽

pp. 24-26

Author(s):

Abdullah Al-Mamun ◽

Samim Hasan ◽

Syed Ahmed Abdullah ◽

Ahmed Riyad Hossain ◽

Safiul Alam ◽

...

Keyword(s):

Replacement Therapy ◽

Primary Immunodeficiency ◽

Common Variable Immunodeficiency ◽

Young Girl ◽

Organ Specific ◽

Relative Rarity ◽

Immunoglobulin Replacement ◽

Immunodeficiency Syndrome ◽

Work Up ◽

Common Variable

A description is given of a case of a young girl who presented with repeated episodes of pneumonia since childhood. In addition, she had episodes of intermittent diarrhoea. Her investigative work-up revealed a deficiency of serum immunoglobulins. The profile was suggestive of common variable immunodeficiency. Because of a relative rarity of this disease, it is often misdiagnosed earlier. Late diagnosis and delayed institution of immunoglobulin replacement therapy results in increased morbidity with a wide variety of organ-specific complications and increased mortality. DOI: http://dx.doi.org/10.3329/bjmed.v22i1.13597 Bangladesh J Medicine 2011; 22: 24-26

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Features of the cytokine profile in humoral primary immunodeficiency patients

Rossiiskii Allergologicheskii ZHurnal ◽

10.36691/rja476 ◽

2015 ◽

Vol 12 (1) ◽

pp. 34-37

Author(s):

L P Sizyakina ◽

I I Andreeva ◽

E A Antonova

Keyword(s):

Primary Immunodeficiency ◽

Common Variable Immunodeficiency ◽

Serum Levels ◽

Cytokine Profile ◽

Common Variable

The results of cytokines serum levels in patients with infectious and autoimmune phenotypes of X-linked agammaglobulinemia (X-AGG) and common variable immunodeficiency (CVID) are presented. In patients with varying nature of the primary agammaglobulinemia similar cytokine changes were estimated.

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