3,597 results match your criteria Common Variable Immunodeficiency


Phenotypically defined subpopulations of circulating follicular helper T cells in common variable immunodeficiency.

Immun Inflamm Dis 2020 Jul 2. Epub 2020 Jul 2.

Division of Basic and Clinical Immunology, University of California, Irvine, California.

Background: Common variable immunodeficiency (CVID) is characterized by low immunoglobulin G and IgA/IgM, decreased switched memory B cells, impaired response to vaccine, and an increased susceptibility to infections and autoimmunity. T cells play an important role in germinal center reaction where it supports isotype switching, somatic hypermutation, generation of memory B cells, and differentiation of B cells to plasma cells. The objective was to study the distribution of three subsets of T cells and their relationship with autoimmune diseases associated with CVID. Read More

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http://dx.doi.org/10.1002/iid3.326DOI Listing

Monogenic Primary Immunodeficiency Disorder Associated with Common Variable Immunodeficiency and Autoimmunity.

Int Arch Allergy Immunol 2020 Jul 2:1-9. Epub 2020 Jul 2.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran,

Background: Common variable immunodeficiency (CVID) is the most frequent primary immunodeficiency disorder mainly characterized by recurrent bacterial infections besides other immunological defects including loss of or dysfunction of B cells and decreased immunoglobulin levels. In this study, our aim is to evaluate clinical, immunological, and molecular data of patients with a primary clinical diagnosis of CVID and autoimmune phenotype with a confirmed genetic diagnosis.

Methods: Among 297 patients with CVID, who were registered in the Iranian Primary Immunodeficiency Registry at Children's Medical Center Hospital in Iran, 83 patients have been genetically examined and 27 patients with autoimmunity and confirmed genetic mutations were selected for analysis. Read More

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http://dx.doi.org/10.1159/000508817DOI Listing

Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients.

J Clin Immunol 2020 Jun 30. Epub 2020 Jun 30.

Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare congenital condition characterized by a selective predisposition to infections caused by weakly virulent mycobacteria and other types of intra-macrophagic pathogens. The 16 genes associated with MSMD display a considerable level of allelic heterogeneity, accounting for 31 distinct disorders with variable clinical presentations and prognosis. Most of MSMD deficiencies are isolated, referred to as selective susceptibility to mycobacterial diseases. Read More

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http://dx.doi.org/10.1007/s10875-020-00813-7DOI Listing

A rare case of peliosis hepatis in primary immune deficiency.

SAGE Open Med Case Rep 2020 17;8:2050313X20931996. Epub 2020 Jun 17.

Division of Pulmonary, Critical Care, Sleep and Allergy, Department of Medicine, University of Illinois at Chicago, Chicago, IL, USA.

Peliosis hepatis is a rare condition characterized by blackish-blue blood-filled cavities in hepatic parenchyma caused by dilatation of hepatic sinusoids. Peliosis hepatis has been described in secondary immunodeficiencies and certain medications. We present the first case of peliosis hepatis in a patient with a primary immunodeficiency, common variable immunodeficiency. Read More

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http://dx.doi.org/10.1177/2050313X20931996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7301656PMC

Neuroendocrine Cells Are Commonly Absent in the Intestinal Crypts in Autoimmune Enteropathy.

Am J Surg Pathol 2020 Jun 24. Epub 2020 Jun 24.

Division of Anatomic Pathology, Mayo Clinic, Rochester, MN.

The absence of neuroendocrine (NE) cells in the intestinal mucosa in autoimmune enteropathy (AIE) has been occasionally reported. However, the status of NE cells has not been studied in detail in AIE. Small bowel and colonic biopsies were retrospectively retrieved from 18 AIE patients (26 baseline [18 small bowel and 8 colon]; and 15 follow-up [11 duodenum and 4 colon] biopsies in 11 patients). Read More

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http://dx.doi.org/10.1097/PAS.0000000000001516DOI Listing

Abscess in a Patient with Common Variable Immunodeficiency.

Pathogens 2020 Jun 22;9(6). Epub 2020 Jun 22.

Division of Basic and Clinical Immunology, and Department of Pathology and Laboratory Medicine, University of California at Irvine, Irvine, CA 92660, USA.

is an anaerobic, gram-positive commensal organism of the urogenital tract. typically causes urinary tract infections, predominantly in the elderly. Here, we describe the first case of infection presenting as cellulitis and abscess in a patient with common variable immunodeficiency. Read More

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http://dx.doi.org/10.3390/pathogens9060494DOI Listing

B Cell Disorders in Children-Part I.

Curr Allergy Asthma Rep 2020 Jun 23;20(9):52. Epub 2020 Jun 23.

Department of Pediatrics, Allergy-Immunology and Pediatric Rheumatology Division, Medical College of Georgia at Augusta University, 1120 15th Street, Augusta, GA, 30912, USA.

Purpose Of Review: The advent of enhanced genetic testing has allowed for the discovery of gene defects underlying two broad categories of antibody deficiency in children: agammaglobulinemia and common variable immunodeficiency (CVID). This review describes the underlying gene defects and the clinical manifestations.

Recent Findings: Because novel monogenetic defects have been discovered in both categories, a strict dichotomous classification of B cell disorders as either X-linked agammaglobulinemia or common variable immunodeficiency is no longer appropriate. Read More

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http://dx.doi.org/10.1007/s11882-020-00938-0DOI Listing

The Dysfunctional Immune System in Common Variable Immunodeficiency Increases the Susceptibility to Gastric Cancer.

Cells 2020 Jun 19;9(6). Epub 2020 Jun 19.

Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, 1649-028 Lisbon, Portugal.

Gastric carcinoma (GC) represents the most common cause of death in patients with common variable immunodeficiency (CVID). However, a limited number of cases have been characterised so far. In this study, we analysed the clinical features, bacterial/viral infections, detailed morphology and immune microenvironment of nine CVID patients with GC. Read More

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http://dx.doi.org/10.3390/cells9061498DOI Listing

Whole exome sequencing identifies compound heterozygous variants of gene in monozygotic twin patients with common variable immunodeficiency.

SAGE Open Med 2020 22;8:2050312120922652. Epub 2020 May 22.

Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia.

Objectives: A pair of female Malay monozygotic twins who presented with recurrent upper respiratory tract infections, hepatosplenomegaly, bronchiectasis and bicytopenia were recruited in this study. Both patients were suspected with primary immunodeficiency diseases. However, the definite diagnosis was not clear due to complex disease phenotypes. Read More

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http://dx.doi.org/10.1177/2050312120922652DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249565PMC

Flow-cytometry as an auxiliary in the diagnosis of primary humoral immunodeficiencies.

Gac Med Mex 2020 ;156(3):194-200

Instituto Politécnico Nacional, Center of Research and Advanced Studies, Department of Molecular Biomedicine, Mexico City, Mexico.

Background: Antibody deficiencies encompass a wide spectrum of pathologies and constitute approximately 50 % of primary immunodeficiencies; with cytometry, it is possible to evaluate the immune status rapidly, effectively and at low cost.

Objective: To assess, by means of flow cytometry, the cells of patients with three types of primary humoral immunodeficiencies.

Method: Using flow cytometry, blood samples from patients and healthy subjects were analyzed with different monoclonal antibodies. Read More

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http://dx.doi.org/10.24875/GMM.M20000386DOI Listing
January 2020

Increased antiviral response in circulating lymphocytes from hypogammaglobulinemia patients.

Allergy 2020 Jun 13. Epub 2020 Jun 13.

Swiss Institute of Allergy and Asthma Research (SIAF), University of Zurich, Davos, Switzerland.

Background: B cells play a crucial role during rhinovirus (RV) infections by production of virus-neutralizing antibodies. A main feature of common variable immunodeficiency (CVID) is hypogammaglobulinemia (HG). HG patients have severely reduced levels of antibody-producing B cells and suffer from prolonged virus infections. Read More

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http://dx.doi.org/10.1111/all.14445DOI Listing

Immunoglobulin G Deficiency in Children with Recurrent Respiratory Infections with and Without History of Allergy.

Adv Exp Med Biol 2020 Jun 10. Epub 2020 Jun 10.

Institute of Agricultural Engineering, Wroclaw University of Environmental and Life Science, Wroclaw, Poland.

Recurrent respiratory tract infections (RTI) are one of the most common diseases in childhood. Frequent infections adversely affect the development of a child and may lead to suspicion of immunodeficiency. An additional allergy component is thought conducive to infection occurrence. Read More

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http://dx.doi.org/10.1007/5584_2020_541DOI Listing

A rare case of pulmonary disease combining alpha-1-antitrypsin deficiency and common variable immunodeficiency.

Pulmonology 2020 Jun 6. Epub 2020 Jun 6.

Instituto de Investigação e Inovação em Saúde, Universidade do Porto (i3S), Porto, Portugal; Faculty of Medicine, University of Porto, Portugal; Pulmonology Department, Centro Hospitalar Universitário de São João, Portugal.

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http://dx.doi.org/10.1016/j.pulmoe.2020.04.016DOI Listing

Tonsillar granuloma associated with hypogammaglobulinemia.

Allergy Asthma Clin Immunol 2020 29;16:43. Epub 2020 May 29.

Research Unit of Biomedicine, University of Oulu, Oulu, Finland.

Background: Rare tonsillar granulomas may be caused for example by infections, malignancies or sarcoidosis. Granulomas also occur in inborn errors of immunity (IEI) such as common variable immunodeficiency (CVID) with B cell maturation defects and hypogammaglobulinemia. CVID shares various features with sarcoidosis and drug-induced secondary hypogammaglobulinemia; careful consideration of differential diagnosis between these conditions is warranted. Read More

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http://dx.doi.org/10.1186/s13223-020-00441-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7257222PMC

Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients.

J Clin Immunol 2020 Jun 6. Epub 2020 Jun 6.

Pediatrics Department, Faculty of Medicine, Cairo University, Giza, Egypt.

LPS-responsive beige-like anchor (LRBA) deficiency is an autosomal recessive primary immunodeficiency disorder, OMIM (#614700). LRBA deficiency patients suffer from variable manifestations including recurrent infections, immune dysregulation, autoimmunity, cytopenias, and enteropathy. This study describes different clinical phenotypes and immunological characteristics of 18 LRBA deficiency patients diagnosed from Egypt. Read More

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http://dx.doi.org/10.1007/s10875-020-00799-2DOI Listing
June 2020
3.184 Impact Factor

Positive Outcome in a COVID-19 patient with Common Variable Immunodeficiency after IVIG.

Ann Allergy Asthma Immunol 2020 Jun 4. Epub 2020 Jun 4.

Department of Allergy Immunology, Case western Reserve University, Metrohealth Medical Centre, Cleveland, Ohio. 2500 metrohealth Dr. Cleveland, Ohio 44109.

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http://dx.doi.org/10.1016/j.anai.2020.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7272161PMC

Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Nature 2020 Jul 6;583(7814):90-95. Epub 2020 May 6.

Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK.

Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic challenges. Although the most severe forms of PID are identified in early childhood, most patients present in adulthood, typically with no apparent family history and a variable clinical phenotype of widespread immune dysregulation: about 25% of patients have autoimmune disease, allergy is prevalent and up to 10% develop lymphoid malignancies. Consequently, in sporadic (or non-familial) PID genetic diagnosis is difficult and the role of genetics is not well defined. Read More

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http://dx.doi.org/10.1038/s41586-020-2265-1DOI Listing
July 2020
42.351 Impact Factor

Common Variable Immunodeficiency Enteropathy With Chronic Giardiasis.

Mayo Clin Proc 2020 Jun;95(6):1293-1294

Division of Gastroenterology and Hepatology, Mayo Clinic, Jacksonville, FL. Electronic address:

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http://dx.doi.org/10.1016/j.mayocp.2020.02.024DOI Listing

Phenotypic and Functional Analysis of T Follicular Cells in Common Variable Immunodeficiency.

Int Arch Allergy Immunol 2020 Jun 3:1-13. Epub 2020 Jun 3.

Division of Basic and Clinical Immunology, Department of Medicine, University of California, Irvine, Irvine, California, USA.

Introduction: One of the most frequent abnormalities of B cells in common variable immunodeficiency (CVID) is reduced number of class-switched memory B cells, suggesting an impaired germinal center response. Therefore, due to its pivotal role in regulating the development of humoral immunity, the objective of this study was to evaluate the role of circulating T follicular helper (cTFH) and circulating T follicular regulatory (cTFR) cells in the pathogenesis of CVID.

Methods: cTFH and cTFR cells from CVID patients and healthy subjects were phenotypically characterized by flow cytometry. Read More

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http://dx.doi.org/10.1159/000507995DOI Listing

Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID.

J Clin Invest 2020 Jun 2. Epub 2020 Jun 2.

Department of Immunobiology, Yale University School of Medicine, New Haven, United States of America.

Patients with common variable immunodeficiency associated with autoimmune cytopenias (CVID+AIC) generate few isotype-switched B cells with severely decreased frequencies of somatic hypermutations (SHM) but their underlying molecular defects remain poorly characterized. We identified a CVID+AIC patient who displays a rare homozygous missense M466V mutation in the beta catenin-like protein 1 (CTNNBL1). Since CTNNBL1 binds activation-induced cytidine deaminase (AID) that catalyzes SHM, we tested AID interactions with the CTNNBL1 M466V variant. Read More

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http://dx.doi.org/10.1172/JCI131297DOI Listing

Co-infections among patients with COVID-19: The need for combination therapy with non-anti-SARS-CoV-2 agents?

J Microbiol Immunol Infect 2020 May 23. Epub 2020 May 23.

Departments of Laboratory Medicine and Internal Medicine, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan. Electronic address:

Co-infection has been reported in patients with severe acute respiratory syndrome (SARS) and Middle East respiratory syndrome, but there is limited knowledge on co-infection among patients with coronavirus disease 2019 (COVID-19). The prevalence of co-infection was variable among COVID-19 patients in different studies, however, it could be up to 50% among non-survivors. Co-pathogens included bacteria, such as Streptococcus pneumoniae, Staphylococcus aureus, Klebsiella pneumoniae, Mycoplasma pneumoniae, Chlamydia pneumonia, Legionella pneumophila and Acinetobacter baumannii; Candida species and Aspergillus flavus; and viruses such as influenza, coronavirus, rhinovirus/enterovirus, parainfluenza, metapneumovirus, influenza B virus, and human immunodeficiency virus. Read More

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http://dx.doi.org/10.1016/j.jmii.2020.05.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7245213PMC

Primary Immunodeficiencies in a Mesoregion of São Paulo, Brazil: Epidemiologic, Clinical, and Geospatial Approach.

Front Immunol 2020 12;11:862. Epub 2020 May 12.

Imunnodeficiencies Outpatient Clinic, Regional Hospital of Presidente Prudente, Presidente Prudente, Brazil.

Primary immunodeficiencies (PIDs) are rare genetic disorders leading to immunologic abnormalities that can affect different organs and systems. We determined the epidemiology, clinical, and geospatial characteristics of PID disorders among patients diagnosed over a 5 year period in a reference hospital covering a mesoregion in São Paulo, Brazil. A retrospective analysis of 39 patients with recognizable PIDs according to the criteria of the European Society of Primary Immunodeficiencies were enrolled. Read More

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http://dx.doi.org/10.3389/fimmu.2020.00862DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7235164PMC

Common variable immunodeficiency and asthma: Coexistence or coincidence?

Ann Allergy Asthma Immunol 2020 06;124(6):635

Department of Respiratory Medicine, Faculty of Medicine, University of Thessaly, Larissa, Greece. Electronic address:

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http://dx.doi.org/10.1016/j.anai.2020.02.013DOI Listing

[Chronic kidney disease in adults with primary immunodeficiency diseases in treatment with intravenous immunoglobulin].

Rev Alerg Mex 2020 Jan-Mar;67(1):25-33

Instituto Mexicano del Seguro Social, Centro Médico Nacional Siglo XXI, Hospital de Especialidades, Servicio de Alergia e Inmunología Clínica, Ciudad de México, México.

Background: Intravenous immunoglobulin (IVIG) is the treatment of choice for humoral primary immunodeficiency diseases (PIDs). A third of the patients who receive intravenous immunoglobulin have adverse reactions, such as osmotic nephrosis.

Objective: To assess the presence of kidney disease in adults with humoral PIDs, in treatment with intravenous immunoglobulin. Read More

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http://dx.doi.org/10.29262/ram.v67i1.707DOI Listing

Lung disease in patients with common variable immunodeficiency.

Allergol Immunopathol (Madr) 2020 May 20. Epub 2020 May 20.

Unidad de Inmunología e Histocompatibilidad, Hospital Dr. Carlos G. Durand, Buenos Aires, Argentina.

Background: Common Variable Immunodeficiency (CVID) is characterized by an impaired antibody production and a higher susceptibility to encapsulated bacterial infections. Lung disease is considered to be the most important cause of morbidity and mortality.

Methods: We analyzed clinical, radiological and functional characteristics in 80 patients with CVID assisted in the Unidad Inmunologia e Histocompatibilidad at Durand Hospital from 1982 to 2018. Read More

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http://dx.doi.org/10.1016/j.aller.2020.04.001DOI Listing

Evidence of pulmonary arterial hypertension in two patients with common variable immunodeficiency.

Pulm Circ 2020 Apr-Jun;10(2):2045894020922792. Epub 2020 May 1.

Division of Allergy, Pulmonary and Critical Care Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, USA.

Common variable immunodeficiency is a chronic illness plagued with recurrent infections and the potential to develop autoimmune disease. These patients may manifest a spectrum of complications ranging from hematologic malignancy to chronic parenchymal lung disease. Regular immunoglobulin replacement therapy improves immunologic debility but does not mitigate other features of this disease. Read More

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http://dx.doi.org/10.1177/2045894020922792DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218961PMC

Evaluation of the frequency and diagnostic delay of primary immunodeficiency disorders among suspected patients based on the 10 warning sign criteria: A cross-sectional study in Iran.

Allergol Immunopathol (Madr) 2020 May 11. Epub 2020 May 11.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Educationan and Research Netwrork (USERN), Tehran, Iran. Electronic address:

Introduction: The prevalence of undiagnosed primary immunodeficiency diseases is remarkably high and contributes to increasing the rate of morbidity and mortality among this group of patients.

Objective: To examine the 10 warning sign scoring system in patients suspected of primary immune deficiency and also estimate the diagnostic delay in patients with proven disease.

Methods: This descriptive cross-sectional study was carried out during the years 2015-2016 in Ali Asghar (AS) Clinic and Hospital. Read More

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http://dx.doi.org/10.1016/j.aller.2020.03.005DOI Listing

Thoracic Manifestations of Primary Immunodeficiency Disorders.

Indian J Pediatr 2020 May 8. Epub 2020 May 8.

Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, 110029, India.

Primary immunodeficiency disorders (PIDD) are a group of disorders presenting with recurrent infections. The authors retrospectively reviewed the imaging records of 24 proven cases of PIDD and correlated the imaging findings with the type of defect. Final diagnoses were categorized in four groups; Group I (humoral immunodeficiency), Group 2 (cell mediated immunodeficiency), Group 3 (phagocytic disorders) and Group 4 (others). Read More

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http://dx.doi.org/10.1007/s12098-020-03289-wDOI Listing

Granulomatous lymphocytic interstitial lung disease: limiting immunosuppressive therapy-a single-centre experience.

Respirol Case Rep 2020 Jul 5;8(5):e00565. Epub 2020 May 5.

Department of Respiratory Medicine Sunshine Coast University Hospital Birtinya QLD Australia.

Granulomatous lymphocytic interstitial lung disease (GLILD) is characterized by lymphocytic and granulomatous pulmonary infiltration occurring in common variable immunodeficiency (CVID). It is associated with increased mortality compared with CVID patients without GLILD. There are no treatment guidelines due to the low prevalence and the heterogeneity of the condition. Read More

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http://dx.doi.org/10.1002/rcr2.565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7199072PMC

Frequency of HLA Class I and Class II Alleles in Patients with CVID from Turkey.

Immunol Invest 2020 May 5:1-9. Epub 2020 May 5.

Division of Pediatric Immunology, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.

Background: Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency. Certain gene loci are pointed out in several studies in CVID patients. Until now, monogenic defects have been identified in only 2-10% of CVID patients; therefore, association of the disease with HLA alleles may be important for elucidating immunological and genetic mechanisms behind CVID. Read More

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http://dx.doi.org/10.1080/08820139.2020.1759622DOI Listing

Variable immunodeficiency study: Evaluation of two European cohorts within a variety of clinical phenotypes.

Immunol Lett 2020 Jul 25;223:78-88. Epub 2020 Apr 25.

Department of Immunology, IML and IdSSC, Hospital Clínico San Carlos, Madrid, Spain; Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, Madrid, Spain; Immunodeficiency Interdepartmental Group (GIID), Madrid, Spain. Electronic address:

Introduction: Given the wide heterogeneity of common variable immunodeficiency (CVID), several groups have proposed clinical and immunological classifications to better define follow-up and prognostic algorithms. The present study aims to validate recent clinical and laboratory algorithms, based on different combinations of CVID biomarkers, to provide more personalized treatment and follow-up strategies.

Methods: We analysed clinical and immunological features of 80 patients with suspected or diagnosed CVID, in two reference centres of Portugal and Spain. Read More

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http://dx.doi.org/10.1016/j.imlet.2020.03.006DOI Listing

Common variable immunodeficiency and respiratory complications: take-home messages for the clinician.

Ann Allergy Asthma Immunol 2020 05;124(5):414-415

Allergy Partners of North Texas, Dallas, Texas; Department of Pediatrics, Medical City Children's Hospital, Dallas, Texas. Electronic address:

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http://dx.doi.org/10.1016/j.anai.2020.03.016DOI Listing

Preserved Cellular Immunity Upon Influenza Vaccination in Most Patients with Common Variable Immunodeficiency.

J Allergy Clin Immunol Pract 2020 Apr 21. Epub 2020 Apr 21.

Division of Immunodeficiency, Department of Rheumatology and Clinical Immunology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address:

Background: Vaccination against influenza is recommended for patients with common variable immunodeficiency (CVID), although humoral immune responses in these patients are impaired and the evidence of effective T-cell responses in CVID is not well established.

Objective: To determine plasmablast and T-cellular vaccination responses against influenza in patients with CVID.

Methods: Patients with CVID and healthy controls were vaccinated with the quadrivalent vaccine Influsplit Tetra 2018/2019. Read More

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http://dx.doi.org/10.1016/j.jaip.2020.04.019DOI Listing

Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia.

J Allergy Clin Immunol 2020 Apr 20. Epub 2020 Apr 20.

Department of Microbiology and Immunology, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium; Laboratory of Lymphocyte Signalling and Development, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom. Electronic address:

Background: The molecular cause of severe congenital neutropenia (SCN) is unknown in 30% to 50% of patients. SEC61A1 encodes the α-subunit of the Sec61 complex, which governs endoplasmic reticulum protein transport and passive calcium leakage. Recently, mutations in SEC61A1 were reported to be pathogenic in common variable immunodeficiency and glomerulocystic kidney disease. Read More

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http://dx.doi.org/10.1016/j.jaci.2020.03.034DOI Listing
April 2020
11.476 Impact Factor

Clinico-epidemiological spectrum of strongyloidiasis in India: Review of 166 cases.

J Family Med Prim Care 2020 Feb 28;9(2):485-491. Epub 2020 Feb 28.

Department of Microbiology, All India Institute of Microbiology, Rishikesh, Uttarakhand, India.

Strongyloidiasis is frequently asymptomatic but can cause disseminated disease and variable presentations. Diagnosis is often delayed or misdirected either due to poor degree of clinical suspicion or clinical imitation of other gastrointestinal conditions. This infection is not infrequent and several cases from all over India have been reported barring few states from central India. Read More

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http://dx.doi.org/10.4103/jfmpc.jfmpc_1182_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7114037PMC
February 2020

HLA-A and -B Type and Haplotype Frequencies in IgG Subclass Deficiency Subgroups.

Arch Immunol Ther Exp (Warsz) 2020 Apr 20;68(3):14. Epub 2020 Apr 20.

Southern Iron Disorders Center, Birmingham, AL, USA.

We sought to determine whether HLA-A and -B type and haplotype frequencies differ between subgroups of adults with IgG subclass deficiency (IgGSD). We retrospectively compared type and haplotype frequencies of three subgroups of 269 unrelated adult IgGSD patients (70 subnormal IgG1; 121 subnormal IgG3; 78 subnormal IgG1/IgG3) and controls (1,321 for types; 751 for haplotypes). We selected types and haplotypes because their uncorrected frequencies differed significantly from controls in a previous adult IgGSD/common variable immunodeficiency cohort: A*24; B*14; B*35; B*40; B*49; B*50; B*58; B*62; A*01,B*08; A*02,B*44; A*02,B*60; A*03,B*07; A*03,B*14; A*03,B*44; A*31,B*40; and A*32,B*14. Read More

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http://dx.doi.org/10.1007/s00005-020-00572-8DOI Listing

Clinical and immunological features of 44 common variable immunodeficiency patients: The experience of a single center in Turkey.

Allergol Immunopathol (Madr) 2020 Apr 13. Epub 2020 Apr 13.

Division of Pediatric Allergy, Immunology and Infectious Diseases, Department of Pediatrics, Istanbul University Cerrahpaşa Faculty of Medicine, Istanbul, Turkey. Electronic address:

Introduction And Objectives: Common variable immunodeficiency (CVID) is one of the most prevalent forms of primary immunodeficiency characterized by hypogammaglobinemia. Its heterogeneous clinical features include recurrent respiratory tract infections and other complications such as gastrointestinal, autoimmunity, and lymphoproliferative disorders. The aim of this article is to evaluate the general characteristics of CVID patients. Read More

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http://dx.doi.org/10.1016/j.aller.2019.12.008DOI Listing

APRIL-dependent lifelong plasmacyte maintenance and immunoglobulin production in humans.

J Allergy Clin Immunol 2020 Apr 13. Epub 2020 Apr 13.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.

Background: Interactions between the tumor necrosis factor (TNF) ligand superfamily and TNF receptor superfamily play critical roles in B-cell development and maturation. A proliferation-inducing ligand (APRIL), a member of the TNF ligand superfamily, is secreted from myeloid cells and known to induce the differentiation of memory B cells to plasmacytes.

Objective: We sought to elucidate the role of APRIL in B-cell differentiation and immunoglobulin production through the analysis of complete APRIL deficiency in human. Read More

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http://dx.doi.org/10.1016/j.jaci.2020.03.025DOI Listing

Serum Free Light Chains in Common Variable Immunodeficiency Disorders: Role in Differential Diagnosis and Association With Clinical Phenotype.

Front Immunol 2020 31;11:319. Epub 2020 Mar 31.

Department of Medicine-DIMED, University of Padova, Padova, Italy.

We report on an observational, multicenter study of 345 adult CVID patients, designed to assess the diagnostic value and the clinical association of serum free light chain (sFLC) pattern in Common Variable Immunodeficiency disorders (CVID). Sixty CVID patients were tested twice in order to assess intraindividual variability of sFLC. As control groups we included 138 patients affected by undefined primary antibody defects (UAD), lymphoproliferative diseases (LPDs), and secondary antibody deficiencies not related to hematological malignancies (SID). Read More

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http://dx.doi.org/10.3389/fimmu.2020.00319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7136404PMC

Prevalence and Pattern of Pulmonary Manifestation in Patients with Connective Tissue Disorder.

Cureus 2020 Apr 10;12(4):e7618. Epub 2020 Apr 10.

Internal Medicine, Jinnah Postgraduate Medical Centre, Karachi, PAK.

Background A substantial number of deaths and morbidities are caused by pulmonary involvement in connective tissue disorders (CTDs). The majority of patients suffering from CTDs show diverse clinical presentations arising in the lungs, the diaphragm, vasculature, and the pleura during the course of their disease. The clinical course is highly variable ranging from asymptomatic to symptomatic and from reversible to an irreversible stage. Read More

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http://dx.doi.org/10.7759/cureus.7618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7147528PMC

Clinical, immunological and genetic characteristic of patients with clinical phenotype associated to LRBA-deficiency in Colombia.

Colomb Med (Cali) 2019 Sep 30;50(3):176-191. Epub 2019 Sep 30.

Universidad de Antioquia UdeA, Facultad de Medicina, Grupo de Inmunodeficiencias Primarias, Medellin, Colombia.

Background: LPS-responsive beige -like anchor protein (LRBA) deficiency is a primary immunodeficiency disease caused by loss of LRBA protein expression, due to biallelic mutations in gene. LRBA deficiency patients exhibit a clinically heterogeneous syndrome. The main clinical complication of LRBA deficiency is immune dysregulation. Read More

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http://dx.doi.org/10.25100/cm.v50i3.3969DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141146PMC
September 2019

Bronchiolitis and Bronchiolar Disorders.

Semin Respir Crit Care Med 2020 Apr 12;41(2):311-332. Epub 2020 Apr 12.

Department of Thoracic Diseases, "GB. Morgagni" Hospital, Forlì, Italy.

Bronchioles are noncartilaginous small airways with internal diameter of 2 mm or less, located from approximately the eighth generation of purely air conducting airways (membranous bronchioles) down to the terminal bronchioles (the smallest airways without alveoli) and respiratory bronchioles (which communicate directly with alveolar ducts and are in the range of 0.5 mm or less in diameter). Bronchiolar injury, inflammation, and fibrosis may occur in myriad disorders including connective tissue diseases, inflammatory bowel diseases, lung transplant allograft rejection, graft versus host disease in allogeneic stem cell recipients, neuroendocrine cell hyperplasia, infections, drug toxicity (e. Read More

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http://dx.doi.org/10.1055/s-0039-3402728DOI Listing

Health-Related Quality of Life in Common Variable Immunodeficiency Italian Patients Switched to Remote Assistance During the COVID-19 Pandemic.

J Allergy Clin Immunol Pract 2020 06 9;8(6):1894-1899.e2. Epub 2020 Apr 9.

Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy. Electronic address:

Background: A rapidly expanding pandemic of the new coronavirus has become the focus of global scientific attention. Data are lacking on the impact of the pandemic caused by the severe acute respiratory syndrome coronavirus 2 on health-related quality of life among patients affected by primary antibody deficiencies (PADs).

Objective: To identify factors impacting the health-related-quality of life (HRQOL) among Italian patients affected by PADs switched to remote assistance at the time of the coronavirus disease 2019 pandemic. Read More

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http://dx.doi.org/10.1016/j.jaip.2020.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7195351PMC

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

J Allergy Clin Immunol 2020 Apr 9. Epub 2020 Apr 9.

Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; CIBSS (Centre for Integrative Biological Signalling Studies), University of Freiburg, Freiburg, Germany; RESIST - Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany; Institute of Immunology and Transplantation, Royal Free Hospital and University College London, London, United Kingdom; DZIF (German Center for Infection Research) Satellite Center Freiburg, Freiburg, Germany; Rheumatology and Clinical Immunology, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address:

Background: An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes.

Objective: To characterize the clinical and cellular phenotype as well as the management of patients with heterozygous NFKB1 mutations.

Methods: In a worldwide collaborative effort, we evaluated 231 individuals harboring 105 distinct heterozygous NFKB1 variants. Read More

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http://dx.doi.org/10.1016/j.jaci.2019.11.051DOI Listing
April 2020
11.476 Impact Factor

Peripheral Blood Lymphocyte Phenotype Differentiates Secondary Antibody Deficiency in Rheumatic Disease from Primary Antibody Deficiency.

J Clin Med 2020 Apr 7;9(4). Epub 2020 Apr 7.

Department of Rheumatology and Immunology, Hannover Medical School, 30625 Hannover, Germany.

The phenotype of primary immunodeficiency disorders (PID), and especially common variable immunodeficiency (CVID), may be dominated by symptoms of autoimmune disorders. Furthermore, autoimmunity may be the first manifestation of PID, frequently preceding infections and the diagnosis of hypogammaglobulinemia, which occurs later on. In this case, distinguishing PID from hypogammaglobulinemia secondary to anti-inflammatory treatment of autoimmunity may become challenging. Read More

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http://dx.doi.org/10.3390/jcm9041049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7230453PMC

Activated phosphoinositide 3-kinase delta syndrome 1 and 2 (APDS 1 and APDS 2): similarities and differences based on clinical presentation in two boys.

Allergy Asthma Clin Immunol 2020 1;16:22. Epub 2020 Apr 1.

2Department of Paediatrics, Hematology and Oncology, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Toruń, Curie Skłodowskiej 9, 85-092 Bydgoszcz, Poland.

Background: Activated PI3K delta syndrome (APDS) belongs to the heterogeneous group of primary immunodeficiency disorders (PIDs). Progress in next-generation sequencing (NGS) enabled identification of gain-of-function mutations in phosphoinositide 3-kinase (PI3K) genes. Depending on the type of causative mutation, APDS is classified into two types: APDS 1 and APDS 2. Read More

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http://dx.doi.org/10.1186/s13223-020-00420-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7115069PMC

The Immune Response Against Human Cytomegalovirus Links Cellular to Systemic Senescence.

Cells 2020 Mar 20;9(3). Epub 2020 Mar 20.

Immunology and Infectious Diseases Program, Division of BioMedical Sciences, Faculty of Medicine, Memorial University of Newfoundland, 300 Prince Philip Drive, St. John's, NL A1B 3V6, Canada.

Aging reflects long-term decline in physiological function and integrity. Changes arise at a variable pace governed by time-dependent and -independent mechanisms that are themselves complex, interdependent and variable. Molecular decay produces inferior cells that eventually dominate over healthy counterparts in tissues they comprise. Read More

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http://dx.doi.org/10.3390/cells9030766DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140628PMC

Immunological and Clinical Phenotyping in Primary Antibody Deficiencies: a Growing Disease Spectrum.

J Clin Immunol 2020 May 2;40(4):592-601. Epub 2020 Apr 2.

Section of Rheumatology, Allergy and Immunology, Department of Internal Medicine, Yale University School of Medicine, 300 Cedar Street, New Haven, CT, 06520, USA.

Purpose: Although common variable immunodeficiency (CVID) is considered the most prevalent symptomatic primary antibody deficiency (PAD), there is a population with symptomatic PADs that do not meet criteria for CVID. We analyzed clinical and immunological profiles of patients with different PADs to better understand the differences and similarities between CVID and other PADs.

Methods: We extracted clinical and laboratory data of patients with PADs from electronic medical records. Read More

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http://dx.doi.org/10.1007/s10875-020-00773-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7260109PMC