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    1 OF 61
    Heterogeneity of GATA2-related myeloid neoplasms.
    Int J Hematol 2017 Jun 22. Epub 2017 Jun 22.
    Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
    The GATA2 gene codes for a master hematopoietic transcription factor that is essential for the proliferation and maintenance of hematopoietic stem and progenitor cells. Heterozygous germline mutations in GATA2 have been initially associated with several clinical entities that are now collectively defined as GATA2 deficiency. Despite pleiotropic clinical manifestations, the high propensity for the development of myelodysplastic syndromes (MDS) constitutes the most common clinical denominator of this major MDS predisposition syndrome. Read More
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    A Review on Defects of Dendritic Cells in Common Variable Immunodeficiency.
    Endocr Metab Immune Disord Drug Targets 2017 Jun 13. Epub 2017 Jun 13.
    Department of Laboratory Medicine, Imam Hassan Mojtaba Hospital, Alborz University of Medical Sciences, Karaj. Iran.
    Background And Objectives: Common variable immunodeficiency (CVID) is the most important primary that is associated with clinical complications including recurrent infections, malignancy and autoimmune diseases. The genetic cause of CVID is mostly unknown and only a few genetic causes are identified. The various options are proposed for determining the etiology of CVID patients, such as T- and B-cell defects, Toll-like receptors (TLRs) impairments, altered cytokine production as well as blemished dendritic cells (DCs). Read More
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    Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.
    Sci Rep 2017 Jun 16;7(1):3702. Epub 2017 Jun 16.
    Clinical Immunology Research Lab, Department of Pulmonary Medicine, Centre for Primary Immunodeficiency, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium.
    Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More often, the immune defect is not the major clinical problem and is sometimes only recognized after a diagnosis has been made based on extra-immunological abnormalities. Here, we report two sibling pairs with syndromic primary immunodeficiencies that exceptionally presented with a phenotype resembling early-onset common variable immunodeficiency, while extra-immunological characteristics were not apparent at that time. Read More
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    Murine LRBA-deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation.
    Immunol Cell Biol 2017 Jun 14. Epub 2017 Jun 14.
    Immunology Division, Garvan Institute for Medical Research, Sydney, Australia.
    Inherited mutations in Lipopolysaccharide Responsive Beige-like Anchor (LRBA) cause a recessive human immune dysregulation syndrome with memory B cell and antibody deficiency (common variable immunodeficiency, CVID), inflammatory bowel disease, enlarged spleen and lymph nodes, accumulation of activated T cells, and multiple autoimmune diseases. To understand the pathogenesis of the syndrome, C57BL/6 mice carrying a homozygous truncating mutation in Lrba were produced using CRISPR/Cas9-mediated gene targeting. These mice revealed that LRBA plays a critical, cell autonomous role in promoting CTLA-4 accumulation within CD4 effector T cells and FOXP3(+) T regulatory cells (Tregs). Read More
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    Comparison of Bone Mineral Density in Common variable immunodeficiency and X-Linked Agammaglobulinaemia Patients.
    Endocr Metab Immune Disord Drug Targets 2017 Jun 11. Epub 2017 Jun 11.
    Pediatric Research Center, Qom University of Medical Sciences, Qom. Iran.
    Background: Primary antibody deficiency (PAD) is the most common group of primary immunodeficiency disorders, resulting from different defects in development and function of B cell lineage. Common variable immunodeficiency (CVID) and X-linked agammaglobulinemia (XLA) are two of the major types of PADs. Optimal growth and subsequently bone health could potentially compromise due to the interference of several factors in PAD with childhood onset. Read More
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    Immune deficiency and autoimmunity in patients with CTLA-4 mutations.
    Clin Exp Immunol 2017 Jun 10. Epub 2017 Jun 10.
    Institute of Immunity and Transplantation, Division of Infection & Immunity, School of Life and Medical Sciences, University College London, Royal Free Hospital, Rowland Hill Street, London, NW3 2PF, UK.
    Immune deficiency disorders are a heterogeneous group of diseases of variable genetic aetiology. Whilst the hallmark of immunodeficiency is susceptibility to infection, it is increasingly clear that autoimmunity is prevalent suggestive of a more general immune dysregulation in some cases. With the increasing use of genetic technologies the underlying causes of immune dysregulation are beginning to emerge. Read More
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    A case report of lymphoid intestitial pneumonia in common variable immunodeficiency: Oligoclonal expansion of effector lymphocytes with preferential cytomegalovirus-specific immune response and lymphoproliferative disease promotion.
    Medicine (Baltimore) 2017 Jun;96(23):e7031
    aDepartment of Clinical Immunology, Lower Silesian Center for Cellular Transplantation bL Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wroclaw cDepartment of Immunology, Poznan University of Medical Sciences, Poznań, Poland.
    Rationale: Lymphoid interstitial pneumonia (LIP) is a rare disease with lymphocytic infiltration of the alveolar interstitial and air spaces, sometimes classified as a clonal lymphoproliferative disease (LPD) with high prevalence in patients with immunodysregulation. Although association of mucosa-associated lymphoid tissue (MALT) lymphoma development with infectious agents has been well described, it is not so in the case of LIP. Attempts to demonstrate an infective cause by direct microbe detection have failed, but association with atypical specific immune response to opportunistic infectious agent has not been studied. Read More
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    Granulomatous-Lymphocytic Interstitial Lung Disease in a Patient With Common Variable Immunodeficiency.
    Curr Probl Diagn Radiol 2017 Apr 14. Epub 2017 Apr 14.
    Department of Radiology, University of Florida, Gainesville, FL.
    Common variable immunodeficiency is the most common primary immunodeficiency and consists of impaired immunoglobulin production causing recurrent sinopulmonary infections. The most common cause of mortality for this disorder, however, is from the development of malignancy and autoimmune disorders. One common entity that develops is a systemic granulomatous and lymphoproliferative disorder that can cause an interstitial lung disease more formally referred to as granulomatous-lymphocytic interstitial lung disease (GL-ILD). Read More
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    TH1 phenotype of T follicular helper cells indicates an IFNγ-associated immune dysregulation in CD21low CVID patients.
    J Allergy Clin Immunol 2017 May 26. Epub 2017 May 26.
    Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address:
    Background: A subgroup of patients with Common Variable Immunodeficiency (CVID) suffers from immune dysregulation, manifesting as autoimmunity, lymphoproliferation and organ inflammation, and thereby increasing morbidity and mortality. Therefore, treatment of these complications demands a deeper comprehension of their etiology and pathophysiology.

    Objectives: Based on the identification of an Interferon (IFN) signature in CVID patients with secondary complications and a skewed T follicular helper cell (TFH) differentiation in defined monogenic immunodeficiencies, we sought to determine the profile of CD4 memory T cells in blood and secondary lymphatic tissues of these patients. Read More
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    Novel variant of common variable immunodeficiency.
    BMJ Case Rep 2017 May 27;2017. Epub 2017 May 27.
    Graduate Medical Education, Florida Hospital East Orlando, Orlando, Florida, USA.
    A 57-year-old woman with frequent respiratory infections was initially diagnosed with IgG subclass deficiency based on low levels of IgG subclasses 2 and 3. Three years later, she progressed to having IgA deficiency as well. With a normal total IgG level, she does not meet criteria for common variable immunodeficiency (CVID). Read More
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    Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.
    J Clin Immunol 2017 May 24. Epub 2017 May 24.
    The 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
    Purpose: Chromosome 22q11.2 deletion syndrome (22q11.2DS), the most common cause of DiGeorge syndrome, is quite variable. Read More
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    Health-Related Quality of Life in Adult Patients with Common Variable Immunodeficiency Disorders and Impact of Treatment.
    J Clin Immunol 2017 May 23. Epub 2017 May 23.
    Texas Children's Hospital and Baylor College of Medicine, 1102 Bates St, Houston, TX, 77030, USA.
    Purpose: Common variable immunodeficiency disorder (CVID) is a primary immunodeficiency disease (PIDD) often associated with severe and chronic infections. Patients commonly receive immunoglobulin (Ig) treatment to reduce the cycle of recurrent infection and improve physical functioning. However, how Ig treatment in CVID affects quality of life (QOL) has not been thoroughly evaluated. Read More
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    IBD due to PID: Inflammatory bowel disease caused by primary immunodeficiencies - Clinical presentations, review of literature, and proposal of a rational diagnostic algorithm.
    Pediatr Allergy Immunol 2017 May 17. Epub 2017 May 17.
    Centre for Paediatrics, Medical Centre - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
    Inflammatory bowel diseases (IBD) including Crohn's disease (CD) and ulcerative colitis (UC) have a multifactorial pathogenesis with complex interactions between polygenetic predispositions and environmental factors. However, IBD can also be caused by monogenic diseases, such as primary immunodeficiencies (PID). Recently, an increasing number of these altogether rare diseases has been described to present often primarily, or solely as IBD. Read More
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    Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study.
    Pediatr Allergy Immunol 2017 May 17. Epub 2017 May 17.
    Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
    Background: LPS-responsive beige-like anchor protein (LRBA) deficiency is a combined immunodeficiency caused by mutation in LRBA gene. The patients have a variety of clinical symptoms including hypogammaglobulinemia, recurrent infections, autoimmunity, and enteropathy.

    Methods: A total of 17 LRBA-deficient patients were enrolled in this longitudinal study. Read More
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    Common Variable Immunodeficiency Caused by FANC Mutations.
    J Clin Immunol 2017 May 11. Epub 2017 May 11.
    Department of Pediatrics, National Defense Medical College, Saitama, Japan.
    Common variable immunodeficiency (CVID) is the most common adult-onset primary antibody deficiency disease due to various causative genes. Several genes, which are known to be the cause of different diseases, have recently been reported as the cause of CVID in patients by performing whole exome sequencing (WES) analysis. Here, we found FANC gene mutations as a cause of adult-onset CVID in two patients. Read More
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    Recurrent infections in a patient with psoriatic arthritis and hypogammaglobulinemia, treated with conventional and biologic disease-modifying anti-rheumatic drugs-a primary or secondary entity?
    Clin Rheumatol 2017 Jul 9;36(7):1677-1681. Epub 2017 May 9.
    Department of Internal Medicine, Pulmonology, Allergy and Clinical Immunology, Central Clinical Hospital of the Ministry of National Defense, Military Institute of Medicine in Warsaw, Warsaw, Poland.
    A 54-year-old man with confirmed psoriatic arthritis, treated with conventional and biologic disease-modifying anti-rheumatic drugs, suffered from severe, recurrent respiratory tract infections. He was found to have hypogammaglobulinemia. Further investigations confirmed the diagnosis of common variable immunodeficiency. Read More
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    Drug-induced cutaneous lupus erythematosus after immunoglobulin treatment in chronic inflammatory demyelinating polyneuropathy: a case series.
    J Peripher Nerv Syst 2017 May 8. Epub 2017 May 8.
    Department of Neurology, Academic Medical Center, Amsterdam.
    We describe six patients with cutaneous lupus erythematosus (cLE) during immunoglobulin G (IgG) treatment. Five patients were diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP) and one patient with possible CIDP. Five patients received intravenous immunoglobulin (IVIg) and one patient subcutaneous immunoglobulin (SCIg). Read More
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    Infliximab as treatment of severe enteropathy in a patient with common variable immunodeficiency and cytomegalovirus infection.
    Gastroenterol Hepatol 2017 May 2. Epub 2017 May 2.
    Servicio de Aparato Digestivo, Hospital Universitario de Basurto, Bilbao, Vizcaya, España.
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    Defective IL-4 signaling in T cells defines severe common variable immunodeficiency.
    J Autoimmun 2017 Jul 3;81:110-119. Epub 2017 May 3.
    Department of Cancer Immunology, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Oslo, Norway; K.G. Jebsen Center for Cancer Immunotherapy and K.G. Jebsen Inflammation Research Center, Institute of Clinical Medicine, University of Oslo, Oslo, Norway. Electronic address:
    Common variable immunodeficiency (CVID) is defined by hypogammaglobulinemia and B-cell dysfunction, with significant clinical and immunological heterogeneity. Severe non-infectious complications, such as autoimmunity, granulomatous disease and splenomegaly, constitute a major cause of morbidity in CVID patients. T cells are generally regarded important for development of these clinical features. Read More
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    Recessively Inherited Lrba Mutations Cause Autoimmunity Presenting as Neonatal Diabetes.
    Diabetes 2017 May 4. Epub 2017 May 4.
    Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
    Young-onset autoimmune diabetes associated with additional autoimmunity usually reflects a polygenic predisposition but rare cases result from monogenic autoimmunity. Diagnosing monogenic autoimmunity is crucial for patients' prognosis and clinical management. We sought to identify novel genetic causes of autoimmunity presenting with neonatal diabetes (NDM; diagnosis <6 months). Read More
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    A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID syndrome in a patient with a novel NFKB2 mutation.
    J Clin Endocrinol Metab 2017 May 3. Epub 2017 May 3.
    Division of Allergy, Immunology & Rheumatology, Departments of Pediatrics, Stanford University School of Medicine, Stanford, California.
    Context: DAVID syndrome (Deficient Anterior pituitary with Variable Immune Deficiency) is a rare disorder in which children present with symptomatic ACTH deficiency preceded by hypogammaglobulinemia from B-cell dysfunction with recurrent infections, termed common variable immunodeficiency (CVID). Subsequent whole exome sequencing studies have revealed germline heterozygous C-terminal mutations of NFKB2 as either a cause of DAVID syndrome or of CVID without clinical hypopituitarism. However, to the best of our knowledge there have been no cases in which the endocrinopathy has presented in the absence of a prior clinical history of CVID. Read More
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    Humoral primary immunodeficiency diseases: clinical overview and chest high-resolution computed tomography (HRCT) features in the adult population.
    Clin Radiol 2017 Jul 19;72(7):534-542. Epub 2017 Apr 19.
    Institute of Diagnostic Radiology, Department of Medicine, University of Udine, Udine, Italy.
    Humoral primary immunodeficiency diseases (hPIDs) are a heterogeneous group of hereditary disorders resulting in abnormal susceptibility to infections of the sinopulmonary tract. Some of these conditions (e.g. Read More
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    Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome.
    J Clin Immunol 2017 May 20;37(4):375-382. Epub 2017 Apr 20.
    Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
    Purpose: Patients with 22q11.2 deletion syndrome have a variable decrease in immunological parameters, especially regarding T cell counts. The aim of this study was to investigate immunological change over time and factors associated with immunological recovery among patients with 22q11. Read More
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    Fibromyalgia in 300 adult index patients with primary immunodeficiency.
    Clin Exp Rheumatol 2017 Apr 19. Epub 2017 Apr 19.
    Southern Iron Disorders Center, Birmingham, AL; and Department of Microbiology, University of Alabama at Birmingham, USA.
    Objectives: We sought to determine the prevalence and clinical and laboratory associations of fibromyalgia in adults with primary immunodeficiency (immunoglobulin (Ig) G subclass deficiency (IgGSD) and common variable immunodeficiency (CVID).

    Methods: We performed a retrospective analysis of these observations in 300 non-Hispanic white adult index patients with recurrent/severe respiratory tract infections and IgGSD or CVID: age; sex; IgGSD; fibromyalgia; chronic fatigue; autoimmune conditions (ACs); interstitial cystitis (IC); diabetes; body mass index; serum Ig isotypes; blood lymphocytes and subsets; and human leukocyte antigen (HLA)-A and -B types and haplotypes. We performed univariate comparisons, logistic multivariable regressions, and an analysis of covariance. Read More
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    Epidemiology and pathophysiology of malignancy in common variable immunodeficiency?
    Allergol Immunopathol (Madr) 2017 Apr 12. Epub 2017 Apr 12.
    Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:
    Common variable immunodeficiency (CVID) is a diagnostic category of primary immunodeficiency (PID) which may present with heterogeneous disorders including recurrent infections, autoimmunity, granulomatous diseases, lymphoid and other types of malignancies. Generally, the incidence of malignancy in CVID patients is around 1.5-20. Read More
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    Immune dysregulation in immunodeficiency disorders: The role of T-cell receptor sequencing.
    J Autoimmun 2017 Jun 8;80:1-9. Epub 2017 Apr 8.
    Massachusetts General Hospital Cancer Center and Department of Medicine Harvard Medical School, 13th Street, Charlestown, MA, 02129, USA. Electronic address:
    Immune dysregulation is a prominent feature of primary immunodeficiency disorders, which commonly manifested as autoimmunity, cytopenias and inflammatory bowel disease. In partial T-cell immunodeficiency disorders, it has been proposed that the imbalance between effector and regulatory T-cells drives the breakdown of peripheral tolerance. While there is no robust test for immune dysregulation, the T-cell receptor repertoire is used as a surrogate marker, and has been shown to be perturbed in a number of immunodeficiency disorders featuring immune dysregulation including Omenn's Syndrome, Wiskott-Aldrich Syndrome, and common variable immunodeficiency. Read More
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    Primary/Congenital Immunodeficiency: 2015 SH/EAHP Workshop Report-Part 5.
    Am J Clin Pathol 2017 Feb;147(2):204-216
    From the Stanford University School of Medicine, Stanford, CA.
    Objectives: The 2015 Workshop of the Society for Hematopathology/European Association for Haematopathology aimed to review primary immunodeficiency and related lymphoproliferations.

    Methods: Primary immunodeficiencies were divided into immune dysregulation, DNA repair defects, low immunoglobulins, and combined immunodeficiencies.

    Results: Autoimmune lymphoproliferative syndrome (ALPS) is a prototypical immune dysregulation-type immunodeficiency, with defects in T-cell signaling or apoptosis, expansion of T-cell subsets, and predisposition to hemophagocytic lymphohistiocytosis. Read More
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    Identification and Characterization of a Nationwide Danish Adult Common Variable Immunodeficiency Cohort.
    Scand J Immunol 2017 Jun;85(6):450-461
    Department of Infectious Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark.
    In this study, we identified all adults living in Denmark diagnosed with common variable immunodeficiency (CVID) and characterized them according to clinical presentation and EUROclass classification. Using a retrospective, cross-sectional design, possible CVID patients were identified in the Danish National Patient Register and Centers in Denmark treating patients with primary immunodeficiencies. The CVID diagnosis was verified by review of medical records. Read More
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    Vaccine Associated Paralytic Poliomyelitis Unmasking Common Variable Immunodeficiency.
    Indian Pediatr 2017 Mar;54(3):241-242
    Department of Pediatrics, University College of Medical Sciences and Guru Teg Bahadur Hospital, Dilshad Garden, Delhi 110095, India. Correspondence to: Dr Sunil Gomber, Director-Professor, Department of Pediatrics, Guru Teg Bahadur Hospital, Dilshad Garden. Delhi 110 095, India.
    Background: Oral polio vaccine can rarely lead to Vaccine-associated paralytic poliomyelitis (VAPP).

    Case Characteristics: A 2-year-old child with asymmetric paralysis of lower limbs following first booster of oral polio vaccine; type 2 Vaccine-derived poliovirus (VDPV) isolated. Subsequently, the child was diagnosed to have common variable immunodeficiency. Read More
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    Posterior Cord Syndrome and Trace Elements Deficiency as an Uncommon Presentation of Common Variable Immunodeficiency.
    Case Rep Med 2017 5;2017:9870305. Epub 2017 Mar 5.
    Department of Clinical Medicine, Hospital Universitário Antônio Pedro (HUAP), Universidade Federal Fluminense (UFF), Rua Marquês de Paraná 303, 7° Andar, Centro, 24033-90 Niterói, RJ, Brazil.
    Diarrhea is one of the most common symptoms in common variable immunodeficiency, but neurologic manifestations are rare. We presented a 50-year-old woman with recurrent diarrhea and severe weight loss that developed a posterior cord syndrome. Endoscopy found a duodenal villous blunting, intraepithelial lymphocytosis, and lack of plasma cells and magnetic resonance imaging of the spine was normal. Read More
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    British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders.
    J Allergy Clin Immunol Pract 2017 Mar 25. Epub 2017 Mar 25.
    Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield, Sheffield, United Kingdom.
    A proportion of people living with common variable immunodeficiency disorders develop granulomatous-lymphocytic interstitial lung disease (GLILD). We aimed to develop a consensus statement on the definition, diagnosis, and management of GLILD. All UK specialist centers were contacted and relevant physicians were invited to take part in a 3-round online Delphi process. Read More
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    Short article: Mortality and differential diagnoses of villous atrophy without coeliac antibodies.
    Eur J Gastroenterol Hepatol 2017 May;29(5):572-576
    aFirst Department of Internal Medicine, Coeliac Centre Departments of bClinical Biochemistry cBiometry and Clinical Epidemiology, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.
    Objective: Villous atrophy (VA) of the small bowel is mainly related to coeliac disease (CD), whose diagnosis is made on the basis of positive endomysial/tissue transglutaminase antibodies while on a gluten-containing diet in the vast majority of patients. However, VA can also occur in other conditions whose epidemiology is little known. Our aim was to study the epidemiology and clinical features of these rare enteropathies. Read More
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    Delay in diagnosis affects the clinical outcome in a cohort of cvid patients with marked reduction of iga serum levels.
    Clin Immunol 2017 Jul 25;180:1-4. Epub 2017 Mar 25.
    Department of Translational Medical Sciences, Allergy and Clinical Immunology, University of Naples Federico II, Naples, Italy.
    Common variable immunodeficiency disorders (CVID) represent a collection of diseases leading to an absent or strongly impaired antibody production. CVID presents a wide range of immunological abnormalities and clinical manifestations, including infections, inflammatory and autoimmune diseases, and malignancies. The aim of this observational study was to analyze the epidemiological and clinical features of a cohort of 75 Italian CVID patients, and evaluate the correlation with comorbidity and mortality. Read More
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    Clinical Profile, Dosing, and Quality-of-Life Outcomes in Primary Immune Deficiency Patients Treated at Home with Immunoglobulin G: Data from the IDEaL Patient Registry.
    J Manag Care Spec Pharm 2017 Apr;23(4):400-406
    1 Coram/CVS specialty infusion services, Denver, Colorado.
    Background: Patients with primary immune deficiency (PID) often require immunoglobulin G (IgG, commonly referred to as Ig) replacement therapy to prevent infections and associated comorbidities. Ig therapy can be given either through intravenous or subcutaneous routes, and both can be done in the home setting. There is limited information available on the real-world diagnosis, management, and outcomes of this patient population, given the variable disease presentation and treatment options. Read More
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    Type III Hypersensitivity Reaction to Subcutaneous Insulin Preparations in a Type 1 Diabetic.
    J Gen Intern Med 2017 Jul 23;32(7):841-845. Epub 2017 Mar 23.
    Duke University School of Medicine, 3643 N Roxboro Rd, Durham, NC, 27704, USA.
    Management of type 1 diabetes in patients who have insulin hypersensitivity is a clinical challenge and places patients at risk for recurrent diabetic ketoacidosis (DKA). Hypersensitivity reactions can be due to the patient's response to the insulin molecule itself or one of the injection's non-insulin components. It is therefore crucial for clinicians to quickly recognize the type of hypersensitivity reaction that is occurring and identify potentially immunogenic additives for the purpose of directing therapy as various insulin preparations have differing ingredients. Read More
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    Limited role of interferon-kappa (IFNK) truncating mutations in common variable immunodeficiency.
    Cytokine 2017 Aug 19;96:71-74. Epub 2017 Mar 19.
    Department for Clinical Immunology and Rheumatology, Hannover Medical School, Germany.
    We used whole exome sequencing to determine the genetic background of CVID in two non-consanguineous German families. We identified IFNK (interferon-kappa) as the only candidate gene that harbored truncating mutations in affected members from both families. One family segregated c. Read More
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    Increase of circulating α4β7(+) conventional memory CD4 and regulatory T cells in patients with common variable immunodeficiency (CVID).
    Clin Immunol 2017 Jul 18;180:80-83. Epub 2017 Mar 18.
    Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany. Electronic address:
    This study investigated whether circulating α4β7(+) expressing T cells could serve as a potential marker for gastrointestinal (GI) disease activity in patients with CVID. The analysis of α4β7(+) T cells in the peripheral blood of 36 patients and 22 healthy donors (HD) revealed increased percentages of α4β7(+) conventional memory CD4 T cells and Tregs, but not among CD8 T-cell populations in patients with CVID compared to HD. No differences between patients with and without chronic or acute GI symptoms were observed. Read More
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    Plasmablast Response to Primary Rhesus Cytomegalovirus (CMV) Infection in a Monkey Model of Congenital CMV Transmission.
    Clin Vaccine Immunol 2017 May 5;24(5). Epub 2017 May 5.
    Duke Human Vaccine Institute, Duke University Medical Center, Durham, North Carolina, USA
    Human cytomegalovirus (HCMV) is the most common congenital infection worldwide and the leading infectious cause of neurologic deficits and hearing loss in newborns. Development of a maternal HCMV vaccine to prevent vertical virus transmission is a high priority, yet protective maternal immune responses following acute infection are poorly understood. To characterize the maternal humoral immune response to primary CMV infection, we investigated the plasmablast and early antibody repertoire using a nonhuman primate model with two acutely rhesus CMV (RhCMV)-infected animals-a CD4(+) T cell-depleted dam that experienced fetal loss shortly after vertical RhCMV transmission and an immunocompetent dam that did not transmit RhCMV to her infant. Read More
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    Follicular T Cells from smB(-) Common Variable Immunodeficiency Patients Are Skewed Toward a Th1 Phenotype.
    Front Immunol 2017 27;8:174. Epub 2017 Feb 27.
    Immunology Department, Hospital Universitari Son Espases, Palma de Mallorca, Balearic Islands, Spain; Human Immunopathology Research Laboratory, Institut d'Investigació Sanitària de Palma (IdISPa), Palma de Mallorca, Balearic Islands, Spain.
    Germinal center follicular T helper (GCTfh) cells are essential players in the differentiation of B cells. Circulating follicular T helper (cTfh) cells share phenotypic and functional properties with GCTfh cells. Distinct subpopulations of cTfh with different helper capabilities toward B cells can be identified: cTfh1 (CXCR3(+)CCR6(-)), cTfh2 (CXCR3(-)CCR6(-)), and cTfh17 (CXCR3(-)CCR6(+)). Read More
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    Abnormality of regulatory T cells in common variable immunodeficiency.
    Cell Immunol 2017 May 29;315:11-17. Epub 2016 Dec 29.
    Department of Immunology, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:
    Common variable immunodeficiency (CVID) is a heterogeneous group of primary antibody deficiencies (PAD) which is defined by recurrent infections, hypogammaglobulinemia and defects in B-cell differentiation into plasma cells and memory B cells. T cell abnormalities have also been described in CVID patients. Several studies reported that Treg frequencies and their functional characteristics are disturbed and might account for the aberrant immune responses observed in CVID patients. Read More
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    Adults with common variable immunodeficiency: a single-center experience.
    Turk J Med Sci 2017 02 27;47(1):1-12. Epub 2017 Feb 27.
    Division of Immunology and Allergic Diseases, Gülhane Training and Research Hospital, Health Sciences University, Ankara, Turkey.
    Background/aim: In this study, we aimed to assess the clinical and immunological findings of our patients with common variable immunodeficiency (CVID).

    Materials And Methods: We analyzed the records of 31 adult patients with CVID (12 females, 19 males). The patients were classified into clinical and immunophenotypic subgroups for statistical comparisons. Read More
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    Considerations for dosing immunoglobulin in obese patients.
    Clin Exp Immunol 2017 Jun 17;188(3):353-362. Epub 2017 Apr 17.
    Corporate Medical Affairs, Biotest AG, Dreieich, Germany.
    Obesity is a very common condition; however, the effect of excess body weight on the appropriate dose of immunoglobulin has not been defined empirically. The proposed pharmacokinetic differences between lean and obese patients and the opportunity to reduce costs has led to the proposition that obese patients should receive proportionally lower doses of immunoglobulin once a certain threshold is reached. Here the theoretical factors which could affect dosing in obese patients are considered alongside the available empirical evidence. Read More
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    Predictors of granulomatous lymphocytic interstitial lung disease in common variable immunodeficiency.
    Ann Allergy Asthma Immunol 2017 May 20;118(5):614-620. Epub 2017 Feb 20.
    Division of Allergic Diseases, Mayo Clinic, Rochester, Minnesota; Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota. Electronic address:
    Background: A subset of patients with common variable immunodeficiency (CVID) develop granulomatous lymphocytic interstitial lung disease (GLILD), which is associated with early mortality.

    Objective: To determine a set of clinical and/or laboratory parameters that correlate with GLILD.

    Methods: A retrospective, nested case-control (patients with CVID diagnosed with GLILD compared with patients with CVID without a diagnosis of GLILD) medical record review was undertaken at Mayo Clinic, Rochester, MN. Read More
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