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    2991 results match your criteria Common Variable Immunodeficiency

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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 Apr 19. 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

    Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome.
    J Clin Immunol 2017 Apr 20. 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

    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

    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

    Immune dysregulation in immunodeficiency disorders: The role of T-cell receptor sequencing.
    J Autoimmun 2017 Apr 8. 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

    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

    Identification and characterization of a nationwide Danish adult common variable immunodeficiency cohort.
    Scand J Immunol 2017 Apr 2. Epub 2017 Apr 2.
    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

    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

    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

    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

    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

    Delay in diagnosis affects the clinical outcome in a cohort of cvid patients with marked reduction of iga serum levels.
    Clin Immunol 2017 Mar 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

    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

    Type III Hypersensitivity Reaction to Subcutaneous Insulin Preparations in a Type 1 Diabetic.
    J Gen Intern Med 2017 Mar 23. 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

    Limited role of interferon-kappa (IFNK) truncating mutations in common variable immunodeficiency.
    Cytokine 2017 Mar 18;96:71-74. Epub 2017 Mar 18.
    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

    Increase of circulating α4β7(+) conventional memory CD4 and regulatory T cells in patients with common variable immunodeficiency (CVID).
    Clin Immunol 2017 Mar 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

    Plasmablast Response to Primary Rhesus Cytomegalovirus Infection in a Monkey Model of Congenital CMV Transmission.
    Clin Vaccine Immunol 2017 Mar 15. Epub 2017 Mar 15.
    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

    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

    Abnormality of regulatory T cells in common variable immunodeficiency.
    Cell Immunol 2016 Dec 29. 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

    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

    Considerations for dosing immunoglobulin in obese patients.
    Clin Exp Immunol 2017 Mar 6. Epub 2017 Mar 6.
    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

    Predictors of granulomatous lymphocytic interstitial lung disease in common variable immunodeficiency.
    Ann Allergy Asthma Immunol 2017 Feb 18. Epub 2017 Feb 18.
    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

    Diagnostic and therapeutic considerations in patients with hypogammaglobulinemia after rituximab therapy.
    Curr Opin Rheumatol 2017 May;29(3):228-233
    aDivision of Rheumatology, Department of Internal Medicine bDivision of Allergy and Immunology, Departments of Internal Medicine and Pediatrics and Communicable Diseases, University of Michigan, Michigan, USA.
    Purpose Of Review: There are no established guidelines for evaluating and treating hypogammaglobulinemia in patients with rheumatic disease who receive B-cell depleting agents. The purpose of this article is to review findings in the work-up and treatment of common variable immunodeficiency (CVID) that can guide our evaluation of patients with autoimmune disease who develop hypogammaglobulinemia after rituximab/B-cell depleting therapy.

    Recent Findings: Infection rates are higher in rheumatic disease patients who develop hypogammaglobulinemia than those who do not. Read More

    The role of genomics in common variable immunodeficiency disorders.
    Clin Exp Immunol 2017 Feb 25. Epub 2017 Feb 25.
    NIHR Oxford Biomedical Research Centre, Clinical Immunology Group, Oxford, UK.
    The advent of next-generation sequencing (NGS) and 'omic' technologies has revolutionized the field of genetics, and its implementation in health care has the potential to realize precision medicine. Primary immunodeficiencies (PID) are a group of rare diseases which have benefited from NGS, with a massive increase in causative genes identified in the past few years. Common variable immunodeficiency disorders (CVID) are a heterogeneous form of PID and the most common form of antibody failure in children and adults. Read More

    Acute Rejection of a Kidney Transplant in a Patient With Common Variable Immunodeficiency: A Case Report.
    Transplant Proc 2017 Mar;49(2):380-385
    Department of Medicine, Division of Nephrology and Hypertension, Vanderbilt University Medical Center, Nashville, Tennessee, USA. Electronic address:
    Common variable immunodeficiency is a primary immunodeficiency characterized by hypogammaglobulinemia and recurrent bacterial infections. We report a case of a 44-year-old male patient with end-stage renal disease and an established diagnosis of common variable immunodeficiency who underwent a living unrelated kidney transplant. He remained nearly infection free on maintenance immunoglobulin replacement. Read More

    Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy.
    Clin Immunol 2017 Feb 20;179:1-7. Epub 2017 Feb 20.
    Department for Clinical Immunology and Rheumatology, Hannover Medical School, Germany. Electronic address:
    Here we describe novel mutations in recombination activation gene 1 (RAG1) in a compound heterozygous male patient with combined T and B cell immunodeficiency (CID). Clinical manifestations besides antibody deficiency included airway infections, granulomatosis and autoimmune features. He died at the age of 37 due to PML caused by JC virus infection. Read More

    Antibody deficiency in patients with frequent exacerbations of Chronic Obstructive Pulmonary Disease (COPD).
    PLoS One 2017 17;12(2):e0172437. Epub 2017 Feb 17.
    Division of Allergy and Clinical Immunology, Department of Internal Medicine, the Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
    Chronic Obstructive Pulmonary Disease is the third leading cause of death in the US, and is associated with periodic exacerbations, which account for the largest proportion of health care utilization, and lead to significant morbidity, mortality, and worsening lung function. A subset of patients with COPD have frequent exacerbations, occurring 2 or more times per year. Despite many interventions to reduce COPD exacerbations, there is a significant lack of knowledge in regards to their mechanisms and predisposing factors. Read More

    The Hotel Study-Clinical and Health Service Effectiveness in a Cohort of Homeless or Marginally Housed Persons.
    Can J Psychiatry 2017 Jan 1:706743717693781. Epub 2017 Jan 1.
    1 Department of Psychiatry, University of British Columbia, Vancouver, British Columbia.
    Objective: The Hotel Study was initiated in Vancouver's Downtown East Side (DTES) neighborhood to investigate multimorbidity in homeless or marginally housed people. We evaluated the clinical effectiveness of existing, illness-specific treatment strategies and assessed the effectiveness of health care delivery for multimorbid illnesses.

    Method: For context, we mapped the housing locations of patients presenting for 552,062 visits to the catchment hospital emergency department (2005-2013). Read More

    Diagnosis of primary antibody and complement deficiencies in young adults after a first invasive bacterial infection.
    Clin Microbiol Infect 2017 Feb 10. Epub 2017 Feb 10.
    Univ. Lille, Lille Inflammation Research International Center, Lille, France; CHU Lille, Département de Médecine Interne et Immunologie Clinique, Centre National de Référence Maladies Systémiques et Auto-immunes Rares, Lille, France; CHU Lille, Institut d'Immunologie, Lille, France. Electronic address:
    Objectives: Screening for primary immunodeficiencies (PIDs) in adults is recommended after two severe bacterial infections. We aimed to evaluate if screening should be performed after the first invasive infection in young adults.

    Methods: Eligible patients were retrospectively identified using hospital discharge and bacteriology databases in three centres during a 3-year period. Read More

    Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies.
    J Allergy Clin Immunol 2017 Feb 10. Epub 2017 Feb 10.
    Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Unité d'Immuno-Hématologie et Rhumatologie pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Laboratory of Human Genetics of Infectious Diseases, INSERM UMR 1163, Paris, France.
    Background: Primary immunodeficiencies (PIDs) are inherited diseases associated with a considerable increase in susceptibility to infections. It is known that PIDs can also predispose to cancer and immune diseases, including allergy, autoimmunity, and inflammation.

    Objective: We aimed at determining the incidence of autoimmunity and inflammation in patients with PIDs. Read More

    [Hematopoietic stem cells transplant in patients with common variable immunodeficiency. Is a therapeutic option?]
    Rev Alerg Mex 2017 Jan-Mar;64(1):121-125
    Instituto Mexicano del Seguro Social, Centro Médico Nacional Siglo XXI, Hospital de Especialidades, Servicio de Alergia e Inmunología Clínica. Ciudad de México, México.
    Background: Patients with common variable immunodeficiency show higher incidence of sinopulmonary and gastrointestinal infections, as well as lymphoproliferative and autoimmune diseases. The treatment of choice is replacement therapy with human gamma-globulin. Hematopoietic stem cell transplantation is a non-conventional therapeutic modality. Read More

    [Immunological alterations in common variable immunodeficiency].
    Rev Alerg Mex 2017 Jan-Mar;64(4):87-108
    Secretaría de Salud, Instituto Nacional de Pediatría, Unidad de Investigación en Inmunodeficiencias. Ciudad de México, México.
    Common variable immunodeficiency (CVID) is the largest group of symptomatic primary immune deficiencies; it is characterized by hypogammaglobulinemia, poor response to vaccines and increased susceptibility to infections. Cellular phenotypes and abnormalities have been described both in adaptive and innate immune response. Several classifications of common variable immunodeficiency are based on defects found on T and B cells, which have been correlated with clinical manifestations. Read More

    Pairwise diversity and tMRCA as potential markers for HIV infection recency.
    Medicine (Baltimore) 2017 Feb;96(6):e6041
    aDivision of Medical Virology, Stellenbosch University, Tygerberg, South Africa bBotswana-Harvard AIDS Institute Partnership, Gaborone, Botswana cAfrica Health Research Institute, School of Nursing and Public Health, University of KwaZulu-Natal, Durban, Republic of South Africa dHarvard T.H. Chan School of Public Health, Boston, MA, USA eNational Health Laboratory Services (NHLS), Tygerberg Coastal, South Africa fResearch Department of Infection, University College London, London, United Kingdom gCollege of Health Sciences, University of KwaZulu-Natal, Durban, Republic of South Africa hDivision of Sleep Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
    Intrahost human immunodeficiency virus (HIV)-1 diversity increases linearly over time. We assessed the extent to which mean pairwise distances and the time to the most recent common ancestor (tMRCA) inferred from intrahost HIV-1C env sequences were associated with the estimated time of HIV infection. Data from a primary HIV-1C infection study in Botswana were used for this analysis (N = 42). Read More

    Inflammatory Duodenal Polyposis Associated with Primary Immunodeficiency Disease: A Novel Case Report.
    Case Rep Med 2017 10;2017:6206085. Epub 2017 Jan 10.
    Department of Sports Medicine, Safdarjung Hospital, New Delhi, India.
    Agammaglobulinemia is a rare form of B-cell primary immunodeficiency disease characterized by reduced levels of IgG, IgA, or IgM and recurrent bacterial infections. Agammaglobulinemia is most commonly associated with diffuse nodular lymphoid hyperplasia. Duodenal polyps are a rare entity; however, due to wide use of esophagogastroduodenoscopy, incidental diagnosis of duodenal polyps appears to be increasing. Read More

    Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations.
    Blood 2017 Mar 3;129(11):1458-1468. Epub 2017 Feb 3.
    Institute of Immunity and Transplantation, Division of Infection & Immunity, School of Life and Medical Sciences, University College London, Royal Free Hospital, London, United Kingdom.
    Heterozygous CTLA-4 deficiency has been reported as a monogenic cause of common variable immune deficiency with features of immune dysregulation. Direct mutation in CTLA-4 leads to defective regulatory T-cell (Treg) function associated with impaired ability to control levels of the CTLA-4 ligands, CD80 and CD86. However, additional mutations affecting the CTLA-4 pathway, such as those recently reported for LRBA, indirectly affect CTLA-4 expression, resulting in clinically similar disorders. Read More

    Diffuse Nodular Lymphoid Hyperplasia of the Intestine Caused by Common Variable Immunodeficiency and Refractory Giardiasis.
    Intern Med 2017 1;56(3):283-287. Epub 2017 Feb 1.
    Department of Internal Medicine, Hanyang University College of Medicine, Korea.
    Diffuse nodular lymphoid hyperplasia of the gastrointestinal tract is a rare disease characterized by numerous small polypoid nodules in the small intestine, large intestine, or both. It is associated with immunodeficiency and infection, such as Giardia lamblia and Helicobacter pylori. Although diffuse nodular lymphoid hyperplasia associated with common variable immunodeficiency (CVID) and giardiasis is already known, a few studies have reported a regression of the lymphoid nodules after the eradication of infection. Read More

    [Retrospective study of 48 cases of primary central nervous system lymphoma].
    Medicina (B Aires) 2017 ;77(1):17-23
    Servicio de Neuroncología, Instituto de Investigaciones Neurológicas Raúl Carrea (FLENI), Buenos Aires, Argentina.
    Primary central nervous system lymphoma (PCNSL) is an infrequent form of non-Hodgkin lymphoma restricted to the CNS. More than 90% are type B and mainly affect patients aged 50-70 years. Immunodeficiency is the most important risk factor. Read More

    Evolving spectrum of LRBA deficiency-associated chronic arthritis: is there a causative role in juvenile idiopathic arthritis?
    Clin Exp Rheumatol 2017 Mar-Apr;35(2):327-329. Epub 2017 Jan 27.
    Department of Paediatrics, Allergy and Immunology, King Faisal Specialist Hospital and Research Centre; and Alfaisal University, Riyadh, Saudi Arabia.
    Lipopolysaccharide-responsive, beige-like anchor protein (LRBA) deficiency causes common variable immunodeficiency (CVID) disorders and autoimmunity. LRBA deficiency has become a clinically variable syndrome with a wide spectrum of clinical manifestations. We report a patient with LRBA deficiency associated chronic non-erosive arthritis. Read More

    IgG trough levels and progression of pulmonary disease in pediatric and adult common variable immunodeficiency disorder patients.
    J Allergy Clin Immunol 2017 Jan 23. Epub 2017 Jan 23.
    Division of Internal Medicine and Dermatology, Department of Infectious Diseases, University Medical Center Utrecht, Utrecht, The Netherlands.

    Increased Incidence of Fatigue in Patients with Primary Immunodeficiency Disorders: Prevalence and Associations Within the US Immunodeficiency Network Registry.
    J Clin Immunol 2017 Feb 26;37(2):153-165. Epub 2017 Jan 26.
    Section of Immunology, Allergy and Rheumatology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
    Introduction: Patients with primary immunodeficiency (PID) often report fatigue, yet this symptom has not been studied in PID. Fatigue affects 6-7.5% of healthy adults. Read More

    Disseminated adenovirus infection causing severe ARDS.
    BMJ Case Rep 2017 Jan 17;2017. Epub 2017 Jan 17.
    Department of Infectious Diseases, Ohio State University College of Medicine, Columbus, Ohio, USA.
    A previously healthy young man with a rare genetic condition presented with severe acute respiratory distress syndrome secondary to pneumonia with septic shock. He did not improve with conventional therapy for his known causal organism thus prompting further workup. He was found to be profoundly immunosuppressed raising our suspicion for atypical organisms. Read More

    Pattern recognitions receptors in immunodeficiency disorders.
    Eur J Pharmacol 2017 Jan 14. Epub 2017 Jan 14.
    Mycobacteriology Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Pattern recognition receptors (PRRs) recognize common microbial or host-derived macromolecules and have important roles in early activation and response of the immune system. Initiation of the innate immune response starts with the recognition of microbial structures called pathogen associated molecular patterns (PAMPs). Recognition of PAMPs is performed by germline-encoded receptors expressed mainly on immune cells termed pattern recognition receptors (PRRs). Read More

    NEIL1 is a candidate gene associated with common variable immunodeficiency in a patient with a chromosome 15q24 deletion.
    Clin Immunol 2017 Mar 14;176:71-76. Epub 2017 Jan 14.
    Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE-14186 Stockholm, Sweden. Electronic address:
    We report the first patient with an interstitial deletion of chromosome 15q24.1-q24.3 associated with common variable immunodeficiency (CVID). Read More

    Immunopathogenesis of granulomas in chronic autoinflammatory diseases.
    Clin Transl Immunology 2016 Dec 16;5(12):e118. Epub 2016 Dec 16.
    Department of Immunology and Pathology, Central Clinical School, Monash University , Melbourne, VIC, Australia.
    Granulomas are clusters of immune cells. These structures can be formed in reaction to infection and display signs of necrosis, such as in tuberculosis. Alternatively, in several immune disorders, such as sarcoidosis, Crohn's disease and common variable immunodeficiency, non-caseating granulomas are formed without an obvious infectious trigger. Read More

    Mortality and differential diagnoses of villous atrophy without coeliac antibodies.
    Eur J Gastroenterol Hepatol 2017 Jan 11. Epub 2017 Jan 11.
    aFirst Department of Internal Medicine, Coeliac CentreDepartments of bClinical BiochemistrycBiometry 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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