scholarly journals The many faces of common variable immunodeficiency

Hematology ◽  
2012 ◽  
Vol 2012 (1) ◽  
pp. 301-305 ◽  
Author(s):  
Charlotte Cunningham-Rundles
Keyword(s):  
Common Variable Immunodeficiency ◽  
Clinical Manifestations ◽  
Chronic Infections ◽  
Patient Registries ◽  
Biologically Relevant ◽  
Inflammatory Conditions ◽  
Large Patient ◽  
Immune Defect ◽  
Autoimmune Cytopenias ◽  
Common Variable

Abstract Common variable immunodeficiency (CVID) is a rare immune deficiency characterized by low levels of serum IgG, IgA, and/or IgM, with a loss of Ab production. The diagnosis is most commonly made in adults between the ages of 20 and 40 years, but both children and much older adults can be found to have this immune defect. The range of clinical manifestations is broad, including acute and chronic infections, inflammatory and autoimmune diseases, and an increased incidence of cancer and lymphoma. For all of these reasons, the disease phenotype is both heterogeneous and complex. In the past few years, data from large patient registries have revealed that both selected laboratory markers and clinical phenotyping may aid in separating groups of subjects into biologically relevant categories. CVID consists of 2 phenotypes, 1 in which infections are the characteristic and another in which impressive inflammatory and/or hematologic complications also develop, including lymphadenopathy, splenomegaly, autoimmune cytopenias, enteropathy, and/or and granulomatous disease. These phenotypes appear to be stable, are related to immunologic and inflammatory markers, and are predictive of outcomes. This review outlines current understanding about this syndrome based on studies of large cohorts, highlighting the evaluation and treatment of complications and, in particular, the autoimmune and inflammatory conditions that affect these patients.

scholarly journals How I treat common variable immune deficiency

Blood ◽  
2010 ◽  
Vol 116 (1) ◽  
pp. 7-15 ◽  
Author(s):  
Charlotte Cunningham-Rundles
Keyword(s):  
Immune Deficiency ◽  
Common Variable Immunodeficiency ◽  
Clinical Manifestations ◽  
Chronic Infections ◽  
Patient Registries ◽  
Biologically Relevant ◽  
Large Patient ◽  
Immune Defect ◽  
Laboratory Biomarkers ◽  
Common Variable

Abstract Common variable immunodeficiency is a rare immune deficiency, characterized by low levels of serum immunoglobulin G, A, and/or M with loss of antibody production. The diagnosis is most commonly made in adults between the ages of 20 and 40 years, but both children and older adults can be found to have this immune defect. The range of clinical manifestations is broad, including acute and chronic infections, inflammatory and autoimmune disease, and an increased incidence of cancer and lymphoma. For all these reasons, the disease phenotype is both heterogeneous and complex. Contributing to the complexity is that patient cohorts are generally small, criteria used for diagnosis vary, and the doses of replacement immune globulin differ. In addition, routines for monitoring patients over the years and protocols for the use of other biologic agents for complications have not been clarified or standardized. In the past few years, data from large patient registries have revealed that both selected laboratory markers and clinical phenotyping may aid in dissecting groups of subjects into biologically relevant categories. This review presents my approach to the diagnosis and treatment of patients with common variable immunodeficiency, with suggestions for the use of laboratory biomarkers and means of monitoring patients.

scholarly journals Common variable immune deficiency: case studies

Hematology ◽  
2019 ◽  
Vol 2019 (1) ◽  
pp. 449-456 ◽  
Author(s):  
Charlotte Cunningham-Rundles
Keyword(s):  
Immune Deficiency ◽  
Common Variable Immune Deficiency ◽  
Serum Concentrations ◽  
Chronic Infections ◽  
Inflammatory Conditions ◽  
Immune Defect ◽  
Protective Antibodies ◽  
Males And Females ◽  
Immune Defects ◽  
Common Variable

Abstract Common variable immune deficiency (CVID) is one of the most common congenital immune defects encountered in clinical practice. The condition occurs equally in males and females, and most commonly in the 20- to 40-year-old age group. The diagnosis is made by documenting reduced serum concentrations of immunoglobulin G (IgG), IgA, and usually IgM, together with loss of protective antibodies. The genetics of this syndrome are complex and are still being unraveled, but the hallmarks for most patients, as with other immune defects, include acute and chronic infections of the sinopulmonary tract. However, other noninfectious autoimmune or inflammatory conditions may also occur in CVID, and indeed these may be the first and only sign that a significant immune defect is present. These manifestations include episodes of immune thrombocytopenia, autoimmune hemolytic anemia, or neutropenia, in addition to splenomegaly, generalized or worrisome lymphadenopathy, and malignancy, especially lymphoma. These issues commonly bring the patient to the attention of hematologists for both evaluation and treatment. This article discusses 3 cases in which patients with CVID had some of these presenting issues and what hematology input was required.

scholarly journals Association of clinical manifestations and B cell subsets with Freiburg and Paris classifications in patients with Common Variable Immunodeficiency (CVID).

2015 ◽  
Vol 6 ◽  
Author(s):  
Berrón-Ruiz Laura ◽  
Vargas-Hernández Alexander ◽  
Segura-Méndez Nora ◽  
López-Herrera Gabriela ◽  
Mogica-Martínez Dolores ◽  
...  
Keyword(s):  
B Cell ◽  
Common Variable Immunodeficiency ◽  
Clinical Manifestations ◽  
B Cell Subsets ◽  
Common Variable

scholarly journals Major approaches in early diagnostics of common variable immunodeficiency in adults in Moscow

F1000Research ◽  
2012 ◽  
Vol 1 ◽  
pp. 46 ◽  
Author(s):  
Alexander V Karaulov ◽  
Irina V Sidorenko ◽  
Anna S Kapustina
Keyword(s):  
Common Variable Immunodeficiency ◽  
Structural Damage ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Immunoglobulin Therapy ◽  
Early Diagnostics ◽  
Intravenous Immunoglobulin Therapy ◽  
Early Start ◽  
Treatment Concepts ◽  
Common Variable

Common variable immunodeficiency (CVID) is a primary immunological disease characterized predominantly by hypogammaglobulinemia. The main clinical manifestations are severe recurrent infections that often lead to structural damage of affected organs. The early start of adequate intravenous immunoglobulin therapy has significantly improved the prognosis of this serious disorder. Patients with CVID are also predisposed to autoimmune and lymphoproliferative complications. This article deals with the features of this primary immunodeficiency in adults. Clinical manifestations, immunological features and treatment concepts were gathered during 21 years of observation of such patients in Moscow. The authors suggest early predictive clinical signs of CVID in adults.

scholarly journals Common variable immune deficiency: case studies

Blood ◽  
2019 ◽  
Vol 134 (21) ◽  
pp. 1787-1795 ◽  
Author(s):  
Charlotte Cunningham-Rundles
Keyword(s):  
Immune Deficiency ◽  
Case Studies ◽  
Common Variable Immunodeficiency ◽  
Common Variable Immune Deficiency ◽  
Granulomatous Disease ◽  
Autoimmune Cytopenias ◽  
Common Variable

In this review, the authors describe 3 patients with common variable immunodeficiency (CVID), noting the disease manifestations most relevant to the practicing hematologist, especially autoimmune cytopenias, benign lymphoproliferation, granulomatous disease, and lymphomas such as common noninfectious complications of CVID.

scholarly journals Selenium-Related Nutritional Status in Patients With Common Variable Immunodeficiency: Association With Oxidative Stress and Atherosclerosis Risk

2021 ◽  
Author(s):  
Itana Andrade ◽  
Fabíola Suano-Souza ◽  
Fernando Fonseca ◽  
Carolina Lago ◽  
Roseli Sarni
Keyword(s):  
Oxidative Stress ◽  
Nutritional Status ◽  
Chronic Diseases ◽  
Common Variable Immunodeficiency ◽  
Positive Impact ◽  
Clinical Care ◽  
Chronic Infections ◽  
Inborn Errors ◽  
Atherosclerosis Risk ◽  
Common Variable

Abstract Background: Common variable immunodeficiency (CVID) is an innate immunity error, possibly associated with recurrent or chronic infections and autoimmune / inflammatory diseases and neoplasms. It is suggested that these conditions lead to persistent immune stimulation and increased oxidative stress. A positive impact on the survival of patients with an inborn errors of immunity was observed with advanced clinical care protocols, thus raising concerns about the risk of developing other associated chronic diseases, such as atherosclerosis. Studies suggest that selenium (Se) is a protective trace element against damage caused by oxidative stress. Thus, it is postulated that adequate consumption reduces the risk of some chronic diseases. Results: The median age of CVID patients was 36.8 years, with a female predominance. Low concentrations of GPx, Se and apo A-1 were observed in the patients, besides the presence of dyslipidemia and higher concentrations of adiponectin, us-CRP, and LDLox. There was no association between the concentrations of Se and GPx and the biomarkers of lipid metabolism involved in atherosclerosis risk, except for a positive association with apo A-1 and HDL. The median of polyunsaturated fat was lower in CVID patients and the intake of zinc and retinol was higher among them when compared to controls. Conclusion: The study showed a higher risk of cardiovascular disease in CVID patients. The presence of low selenium in CVID patients points to the importance of assessing the selenium-related nutritional status in these patients.

scholarly journals Gut Microbiome and Common Variable Immunodeficiency: Few Certainties and Many Outstanding Questions

2021 ◽  
Vol 12 ◽  
Author(s):  
Gilda Varricchi ◽  
Remo Poto ◽  
Gianluca Ianiro ◽  
Alessandra Punziano ◽  
Gianni Marone ◽  
...  
Keyword(s):  
Gut Microbiota ◽  
Common Variable Immunodeficiency ◽  
Cell Activation ◽  
Immune Cell ◽  
Serum Levels ◽  
Therapeutic Interventions ◽  
Polygenic Inheritance ◽  
Alpha And Beta Diversity ◽  
Inflammatory Conditions ◽  
Common Variable

Common variable immunodeficiency (CVID) is the most common symptomatic primary antibody immunodeficiency, characterized by reduced serum levels of IgG, IgA, and/or IgM. The vast majority of CVID patients have polygenic inheritance. Immune dysfunction in CVID can frequently involve the gastrointestinal tract and lung. Few studies have started to investigate the gut microbiota profile in CVID patients. Overall, the results suggest that in CVID patients there is a reduction of alpha and beta diversity compared to controls. In addition, these patients can exhibit increased plasma levels of lipopolysaccharide (LPS) and markers (sCD14 and sCD25) of systemic immune cell activation. CVID patients with enteropathy exhibit decreased IgA expression in duodenal tissue. Mouse models for CVID unsatisfactorily recapitulate the polygenic causes of human CVID. The molecular pathways by which gut microbiota contribute to systemic inflammation and possibly tumorigenesis in CVID patients remain poorly understood. Several fundamental questions concerning the relationships between gut microbiota and the development of chronic inflammatory conditions, autoimmune disorders or cancer in CVID patients remain unanswered. Moreover, it is unknown whether it is possible to modify the microbiome and the outcome of CVID patients through specific therapeutic interventions.

scholarly journals Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses

2019 ◽  
Vol 143 (1) ◽  
pp. 258-265 ◽  
Author(s):  
Neil Romberg ◽  
Carole Le Coz ◽  
Salomé Glauzy ◽  
Jean-Nicolas Schickel ◽  
Melissa Trofa ◽  
...  
Keyword(s):  
Common Variable Immunodeficiency ◽  
Germinal Center ◽  
Autoimmune Cytopenias ◽  
Common Variable

scholarly journals NEUROENDOCRINE TUMOR IN A CHILD WITH COMMON VARIABLE IMMUNODEFICIENCY

2020 ◽  
Vol 38 ◽  
Author(s):  
Pedro de Souza Lucarelli Antunes ◽  
Heloísa Gabriel Tersariol ◽  
Mainã Marques Belém Veiga ◽  
Maria Conceição Santos de Menezes ◽  
Fabíola Del Carlo Bernardi ◽  
...  
Keyword(s):  
Neuroendocrine Tumor ◽  
Common Variable Immunodeficiency ◽  
Pediatric Patients ◽  
Medical Literature ◽  
Clinical Manifestations ◽  
Serum Levels ◽  
Immunological Investigation ◽  
One Year ◽  
To Receive ◽  
Common Variable

ABSTRACT Objective: To report a case of a child with primary immunodeficiency who at eight years developed digestive symptoms, culminating with the diagnosis of a neuroendocrine tumor at ten years of age. Case description: One-year-old boy began to present recurrent pneumonias in different pulmonary lobes. At four years of age, an immunological investigation showed a decrease in IgG and IgA serum levels. After the exclusion of other causes of hypogammaglobinemia, he was diagnosed with a Common Variable Immunodeficiency and started to receive monthly replacement of human immunoglobulin. The patient evolved well, but at 8 years of age began with epigastrium pain and, at 10 years, chronic persistent diarrhea and weight loss. After investigation, a neuroendocrine tumor was diagnosed, which had a rapid progressive evolution to death. Comments: Medical literature has highlighted the presence of gastric tumors in adults with Common Variable Immunodeficiency, emphasizing the importance of early diagnosis and the investigation of digestive neoplasms. Up to now there is no description of neuroendocrine tumor in pediatric patients with Common Variable Immunodeficiency. We believe that the hypothesis of digestive neoplasm is important in children with Common Variable Immunodeficiency and with clinical manifestations similar to the case described here in the attempt to improve the prognosis for pediatric patients.

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