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Charlotte Cunninghamrundles - One of the best experts on this subject based on the ideXlab platform.

  • autoimmunity in Common Variable Immunodeficiency
    Annals of Allergy Asthma & Immunology, 2019
    Co-Authors: Shradha Agarwal, Charlotte Cunninghamrundles
    Abstract:

    Abstract Objective Common Variable Immunodeficiency (CVID) is a primary Immunodeficiency that is clinically heterogeneous, characterized by both infectious and noninfectious complications. Although the hallmark of disease presentation is Commonly a history of recurrent sinopulmonary infections, autoimmunity and noninfectious inflammatory conditions are increasingly associated with CVID. Data Sources A comprehensive literature search using PubMed of basic science and clinical articles was performed. Study Selections Articles discussing the association of autoimmunity with primary Immunodeficiency, specifically CVID, were selected. Results The most Common autoimmune conditions are cytopenias, including immune thrombocytopenia purpura and hemolytic anemia, but organ-specific autoimmune/inflammatory complications involving the gastrointestinal, skin, joints, connective tissue, and respiratory tract. In most cases, immunoglobulin replacement therapy does not ameliorate or treat these inflammatory complications, and additional immunomodulatory treatments are needed. Conclusion Mechanisms producing these conditions are poorly understood but include cytokine and cellular inflammatory pathways, and loss of tolerance to self-antigens through the multiple signaling molecules and pathways Common to tolerance and immune deficiency.

  • differentiation of Common Variable Immunodeficiency from igg deficiency
    The Journal of Allergy and Clinical Immunology: In Practice, 2019
    Co-Authors: Sarah Taylorblack, Charles A Filion, Paul J Maglione, Lin Radigan, Charlotte Cunninghamrundles
    Abstract:

    Background Common Variable Immunodeficiency (CVID) and IgG deficiency are 2 of the more prevalent primary humoral immune defects. The former is defined by consensus with criteria for quantitative and qualitative antibody defects, whereas the latter is used to describe patients with reduced IgG, who Commonly have recurrent sinopulmonary infections but do not fulfill CVID criteria. However, these patients are often given this diagnosis. Objective To compare immunologic findings and clinical manifestations of 2 large cohorts of patients with CVID or IgG deficiency to better delineate differences between these syndromes. Methods We extracted clinical and laboratory data from electronic medical records of patients at our institution who had received International Classification of Disease codes for either CVID, or IgG deficiency. We gathered immunoglobulin levels, lymphocyte subpopulation counts, and serological vaccine responses. In some patients, we performed flow cytometry to determine percentages of memory and switched-memory B cells. We compiled and statistically compared clinical data related to infectious manifestations, bronchiectasis, autoimmune diseases, infiltrative inflammatory processes, and lymphoid malignancies. Results In contrast to IgG-deficient patients, we found that patients with CVID had lower IgG levels, greater unresponsiveness to most vaccines, lower percentages of memory and isotype switched-memory B cells, and lower CD4 T-cell counts. Clinically, patients with CVID presented similar rates of sinusitis and pneumonias, but a significantly higher prevalence of bronchiectasis and especially noninfectious complications. Conclusions CVID and IgG deficiency do not share the same disease spectrum, the former being associated with immunodysregulative manifestations and markers of a more severe immune defect. These data may allow clinicians to distinguish these conditions and the management differences that these patients pose.

  • international consensus document icon Common Variable Immunodeficiency disorders
    The Journal of Allergy and Clinical Immunology: In Practice, 2016
    Co-Authors: Francisco A Bonilla, Helen Chapel, Charlotte Cunninghamrundles, Lennart Hammarstrom, Isil B Barlan, Beatriz Tavares Costacarvalho, Teresa M De La Morena, Francisco J Espinosarosales, Shigeaki Nonoyama, Isabella Quinti
    Abstract:

    The International Collaboration in Asthma, Allergy and Immunology initiated an international coalition among the American Academy of Allergy, Asthma & Immunology; the European Academy of Allergy and Clinical Immunology; the World Allergy Organization; and the American College of Allergy, Asthma & Immunology on Common Variable Immunodeficiency. An author group was formed and then divided into individual committees. Within the committee, teams of authors were subgrouped to generate content for specific sections of the document. Content was derived from literature searches, relevant published guidelines, and clinical experience. After a draft of the document was assembled, it was collectively reviewed and revised by the authors. Where evidence was lacking or conflicting, the information presented represents the consensus expert opinion of the group. The full document was then independently reviewed by 5 international experts in the field, none of whom was among the authors of the original. The comments of these reviewers were incorporated before submission for publication.

  • progression of Common Variable Immunodeficiency interstitial lung disease accompanies distinct pulmonary and laboratory findings
    The Journal of Allergy and Clinical Immunology: In Practice, 2015
    Co-Authors: Paul J Maglione, Jessica Overbey, Charlotte Cunninghamrundles
    Abstract:

    Background Common Variable Immunodeficiency may be complicated by interstitial lung disease, which leads to worsened morbidity and mortality in some. Although immunomodulatory treatment has efficacy, choice of patient, duration of treatment, and long-term follow-up are not available. Interstitial lung disease appears stable in certain instances, so it is not known whether all patients will develop progressive disease or require immunomodulatory therapy. Objective This study aims to determine if all Common Variable Immunodeficiency patients with interstitial lung disease have physiological worsening, and if clinical and/or laboratory parameters may correlate with disease progression. Methods A retrospective review of medical records at Mount Sinai Medical Center in New York was conducted for referred patients with Common Variable Immunodeficiency, CT scan-confirmed interstitial lung disease, and periodic pulmonary function testing covering 20 or more months before immunomodulatory therapy. Fifteen patients were identified from the retrospective review and included in this study. Results Of the 15 patients with Common Variable Immunodeficiency, 9 had physiological worsening of interstitial lung disease adapted from consensus guidelines, associated with significant reductions in forced expiratory volume in 1 second, forced vital capacity, and diffusion capacity of the lung for carbon monoxide. Those with progressive lung disease also had significantly lower mean immunoglobulin G levels, greater increases and highest levels of serum immunoglobulin M (IgM), and more significant thrombocytopenia. Conclusion Interstitial lung disease resulted in physiological worsening in many, but not all subjects, and was associated with suboptimal immunoglobulin G replacement. Those with worsening pulmonary function tests, elevated IgM, and severe thrombocytopenic episodes appear to be at highest risk for progressive disease. Such patients may benefit from immunomodulatory treatment.

  • the many faces of Common Variable Immunodeficiency
    Hematology, 2012
    Co-Authors: Charlotte Cunninghamrundles
    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.

Asghar Aghamohammadi - One of the best experts on this subject based on the ideXlab platform.

  • Common Variable Immunodeficiency epidemiology pathogenesis clinical manifestations diagnosis classification and management
    Journal of Investigational Allergology and Clinical Immunology, 2020
    Co-Authors: Reza Yazdani, Gholamreza Azizi, Hassan Abolhassani, Sima Habibi, Laleh Sharifi, Peter Olbrich, Asghar Aghamohammadi
    Abstract:

    Common Variable Immunodeficiency (CVID) is a heterogeneous disorder characterized by hypogammaglobulinemia and increased susceptibility to recurrent bacterial infections. It is the most frequent symptomatic antibody deficiency, with a wide variety of infectious and noninfectious complications. Numerous studies have demonstrated that immunological and genetic defects are involved in the pathogenesis of CVID. However, in most cases, the genetic background of the disease remains unidentified. This review aims to discuss various aspects of CVID, including epidemiology, pathogenesis, symptoms, diagnosis, classification, and management.

  • autoimmunity in Common Variable Immunodeficiency epidemiology pathophysiology and management
    Expert Review of Clinical Immunology, 2017
    Co-Authors: Gholamreza Azizi, Hassan Abolhassani, Javad Mohammadi, Nima Rezaei, Reza Yazdani, Mohammad Hosein Asgardoon, Tina Alinia, Hans D Ochs, Asghar Aghamohammadi
    Abstract:

    ABSTRACTIntroduction: Common Variable Immunodeficiency (CVID) comprises a large heterogeneous group of patients with primary antibody deficiency.Areas covered: The affected patients are characterized by increased susceptibility to infections and low levels of serum immunoglobulin. However, enteropathy, granulomatous organ infiltrates, malignancy, inflammatory and autoimmune conditions are also prevalent. The concomitance of Immunodeficiency and autoimmunity appears to be paradoxical and creates difficulties in the management of autoimmune complications affecting these patients.Expert commentary: The management of autoimmunity in patients with CVID requires special considerations because dysregulation and dysfunctions of the immune system along with persistent inflammation impair the process of diagnosis and treatment.

  • early onset steroid induced posterior subcapsular cataract in a patient with Common Variable Immunodeficiency case reports and review of literature
    European annals of allergy and clinical immunology, 2016
    Co-Authors: H Marefat, Ghareje Daghi M, Gholamreza Azizi, Hassan Abolhassani, Asghar Aghamohammadi
    Abstract:

    : Purpose. To report early onset steroid induced posterior subcapsular cataract in a case of Common Variable Immunodeficiency. Methods. Case report. Results. Here we report a 14-yearold male of steroid induced bilateral posterior subcapsular cataract in a Common Variable Immunodeficiency patient with damaging mutations in Glutathione reductase gene, leading to hypersensitivity of patient to glucocorticoid (GC) products. Conclusions. In order to reduce the ocular side effects of the GCs there are some advisements, including a complete history, regular examination, GC should be prescribed in minimal dosage and minimal course, and as possible GC-sparing drugs should always be considered.

  • a review on guidelines for management and treatment of Common Variable Immunodeficiency
    Expert Review of Clinical Immunology, 2013
    Co-Authors: Hassan Abolhassani, Nima Rezaei, Babak Torabi Sagvand, Tahaamin Shokuhfar, Babak Mirminachi, Asghar Aghamohammadi
    Abstract:

    Common Variable Immunodeficiency (CVID) is the most Common symptomatic primary Immunodeficiency in adults. As symptoms of CVID are usually heterogeneous and unspecific, diagnosis and follow-up of CVID can be challenging. In light of this, a broad review of advances in management and treatment of CVID is performed here in order to reach a distinct protocol. However, it should be noted that owing to the nature of the disease, it can only be treated symptomatically but not cured. There is little evidence to guide appropriate or universal guidelines to improve the current status of management of the disease. The most satisfactory treatments of CVID could be achieved by the use of immunoglobulin replacement, antibiotics, immunosuppressants and hematopoietic stem cell transplantation. This review is written based on the importance of clinical surveillance of asymptomatic CVID cases and early recognition of different clinical complications. Moreover, for each complication, appropriate interventions for improving outcomes are mentioned.

  • novel mutations in taci tnfrsf13b causing Common Variable Immunodeficiency
    Journal of Clinical Immunology, 2009
    Co-Authors: Javad Mohammadi, Asghar Aghamohammadi, Qiang Panhammarstrom, Astrid Bergbreiter, Chonghai Liu, Nima Rezaei, Ali Akbar Amirzargar, Mostafa Moin, Lennart Hammarstrom
    Abstract:

    Common Variable Immunodeficiency (CVID) is a heterogeneous syndrome characterized by impaired immunoglobulin production. The disorder is also characterized by co-occurrence of autoimmune, lymphoproliferative, and granulomatous diseases. Mutations in the gene encoding TACI (Transmembrane Activator and CAML Interactor, TNFRSF13B) were previously found to be associated with CVID. We therefore sequenced TNFRSF13B gene in a cohort of 48 Iranian CVID patients. Expression of TACI and binding of A proliferation-inducing ligand (APRIL) were tested by FACS. We identified one patient with a homozygous G to T substitution in the TNFRSF13B gene at the splice site of intron 1 (c.61+1G>T), which abolished expression of the TACI molecule and binding capacity of APRIL. This represents the second CVID patient in the world with a complete absence of TACI expression. B cell lines from family members carrying the same mutation in a heterozygous form showed a reduced level of TACI expression and APRIL-binding capacity, suggesting a gene dosage effect. In addition, we found the previously recognized C104R and C172Y mutations in a heterozygous form in two patients with CVID and one, novel, heterozygous P42T mutation. TACI mutations were observed in Iran CVID patients in a similar frequency as in other Caucasian populations. The novel mutations identified in this study support the notion of a crucial role for TACI in B cell differentiation.

Theo Heller - One of the best experts on this subject based on the ideXlab platform.

Hassan Abolhassani - One of the best experts on this subject based on the ideXlab platform.

  • Common Variable Immunodeficiency epidemiology pathogenesis clinical manifestations diagnosis classification and management
    Journal of Investigational Allergology and Clinical Immunology, 2020
    Co-Authors: Reza Yazdani, Gholamreza Azizi, Hassan Abolhassani, Sima Habibi, Laleh Sharifi, Peter Olbrich, Asghar Aghamohammadi
    Abstract:

    Common Variable Immunodeficiency (CVID) is a heterogeneous disorder characterized by hypogammaglobulinemia and increased susceptibility to recurrent bacterial infections. It is the most frequent symptomatic antibody deficiency, with a wide variety of infectious and noninfectious complications. Numerous studies have demonstrated that immunological and genetic defects are involved in the pathogenesis of CVID. However, in most cases, the genetic background of the disease remains unidentified. This review aims to discuss various aspects of CVID, including epidemiology, pathogenesis, symptoms, diagnosis, classification, and management.

  • autoimmunity in Common Variable Immunodeficiency epidemiology pathophysiology and management
    Expert Review of Clinical Immunology, 2017
    Co-Authors: Gholamreza Azizi, Hassan Abolhassani, Javad Mohammadi, Nima Rezaei, Reza Yazdani, Mohammad Hosein Asgardoon, Tina Alinia, Hans D Ochs, Asghar Aghamohammadi
    Abstract:

    ABSTRACTIntroduction: Common Variable Immunodeficiency (CVID) comprises a large heterogeneous group of patients with primary antibody deficiency.Areas covered: The affected patients are characterized by increased susceptibility to infections and low levels of serum immunoglobulin. However, enteropathy, granulomatous organ infiltrates, malignancy, inflammatory and autoimmune conditions are also prevalent. The concomitance of Immunodeficiency and autoimmunity appears to be paradoxical and creates difficulties in the management of autoimmune complications affecting these patients.Expert commentary: The management of autoimmunity in patients with CVID requires special considerations because dysregulation and dysfunctions of the immune system along with persistent inflammation impair the process of diagnosis and treatment.

  • early onset steroid induced posterior subcapsular cataract in a patient with Common Variable Immunodeficiency case reports and review of literature
    European annals of allergy and clinical immunology, 2016
    Co-Authors: H Marefat, Ghareje Daghi M, Gholamreza Azizi, Hassan Abolhassani, Asghar Aghamohammadi
    Abstract:

    : Purpose. To report early onset steroid induced posterior subcapsular cataract in a case of Common Variable Immunodeficiency. Methods. Case report. Results. Here we report a 14-yearold male of steroid induced bilateral posterior subcapsular cataract in a Common Variable Immunodeficiency patient with damaging mutations in Glutathione reductase gene, leading to hypersensitivity of patient to glucocorticoid (GC) products. Conclusions. In order to reduce the ocular side effects of the GCs there are some advisements, including a complete history, regular examination, GC should be prescribed in minimal dosage and minimal course, and as possible GC-sparing drugs should always be considered.

  • a review on guidelines for management and treatment of Common Variable Immunodeficiency
    Expert Review of Clinical Immunology, 2013
    Co-Authors: Hassan Abolhassani, Nima Rezaei, Babak Torabi Sagvand, Tahaamin Shokuhfar, Babak Mirminachi, Asghar Aghamohammadi
    Abstract:

    Common Variable Immunodeficiency (CVID) is the most Common symptomatic primary Immunodeficiency in adults. As symptoms of CVID are usually heterogeneous and unspecific, diagnosis and follow-up of CVID can be challenging. In light of this, a broad review of advances in management and treatment of CVID is performed here in order to reach a distinct protocol. However, it should be noted that owing to the nature of the disease, it can only be treated symptomatically but not cured. There is little evidence to guide appropriate or universal guidelines to improve the current status of management of the disease. The most satisfactory treatments of CVID could be achieved by the use of immunoglobulin replacement, antibiotics, immunosuppressants and hematopoietic stem cell transplantation. This review is written based on the importance of clinical surveillance of asymptomatic CVID cases and early recognition of different clinical complications. Moreover, for each complication, appropriate interventions for improving outcomes are mentioned.

Dinakantha S. Kumararatne - One of the best experts on this subject based on the ideXlab platform.

  • chronic norovirus infection and Common Variable Immunodeficiency
    Clinical and Experimental Immunology, 2017
    Co-Authors: J Woodward, Effrossyni Gkraniaklotsas, Dinakantha S. Kumararatne
    Abstract:

    Summary Chronic infection with norovirus is emerging as a significant risk for patients with Immunodeficiency – either primary or secondary to therapeutic immunosuppression. Patients with primary Immunodeficiency present a range of pathological responses to norovirus infection. Asymptomatic infections occur and differentiating viral carriage or prolonged viral shedding after self-limiting infection from infection causing protracted diarrhoea can be challenging, due to relatively mild pathological changes that may mimic other causes of diarrhoea in such patients (for instance pathogenic bacteria or parasites or graft-versus-host disease). However, a subset of patients with Common Variable Immunodeficiency (CVID) experience a severe norovirus-associated enteropathy leading to intestinal villous atrophy and malabsorption. Symptomatic infection of up to 8 years has been demonstrated with clinical and histological recovery on viral clearance. Although oral immunoglobulins and nitazoxanide have been used to treat noroviral infections associated with immunosuppression, ribavirin is the only agent to date that has been linked to viral clearance in the Noroviral enteropathy associated with CVID.

  • the role of chronic norovirus infection in the enteropathy associated with Common Variable Immunodeficiency
    The American Journal of Gastroenterology, 2015
    Co-Authors: J Woodward, Effrossyni Gkraniaklotsas, Anthony Yk Corderong, Aloysious Aravinthan, Betty N Bandoh, Susan E Davies, Philip G Stevenson, Martin D Curran, Hongyi Zhang, Dinakantha S. Kumararatne
    Abstract:

    The Role Of Chronic Norovirus Infection In The Enteropathy Associated With Common Variable Immunodeficiency