3,333 results match your criteria Common Variable Immunodeficiency


Evaluating laboratory criteria for combined immunodeficiency in adult patients diagnosed with common variable immunodeficiency.

Clin Immunol 2019 Apr 17. Epub 2019 Apr 17.

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

Some patients diagnosed with common variable immunodeficiency (CVID) actually suffer from combined immunodeficiency (CID) and therefore may require a different, CID-adapted treatment. Several CD4 T-cell-based criteria have been proposed in the past to identify patients with CID within the cohort of adult CVID patients. In this monocentric study, we used retrospective immunological and clinical data of 238 CVID patients to compare four different proposals of how to define CID among CVID patients. Read More

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http://dx.doi.org/10.1016/j.clim.2019.04.001DOI Listing

Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease.

PLoS One 2019 18;14(4):e0215648. Epub 2019 Apr 18.

Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, China.

Mendelian Susceptibility to Mycobacterial Diseases (MSMD) is a primary immunodeficiency disease (PID) characterized by variable susceptibility to weakly virulent mycobacteria (Bacille Calmette-Guerin, BCG) and various intramacrophagic bacteria, fungi, parasites. Mycobacterial disease generally begins in childhood, more rarely during adolescence and adulthood. The pathogenesis of MSMD is the inherited impaired production of interferon gamma (IFN-γ) or inadequate response to it. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0215648PLOS
April 2019
1 Read

CD89 Is a Potent Innate Receptor for Bacteria and Mediates Host Protection from Sepsis.

Cell Rep 2019 Apr;27(3):762-775.e5

INSERM U1149, Centre de Recherche sur l'Inflammation, Paris, France; CNRS ERL8252, Paris, France; Université Paris Diderot, Sorbonne Paris Cité, Faculté de Médecine, Site Xavier Bichat, Paris, France; Inflamex Laboratory of Excellence, Paris, France. Electronic address:

Direct bacterial recognition by innate receptors is crucial for bacterial clearance. Here, we show that the IgA receptor CD89 is a major innate receptor that directly binds bacteria independently of its cognate ligands IgA and c-reactive protein (CRP). This binding is only partially inhibited by serum IgA and induces bacterial phagocytosis by CD11c dendritic cells and monocytes and/or macrophages, suggesting a physiological role in innate host defense. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22111247193039
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http://dx.doi.org/10.1016/j.celrep.2019.03.062DOI Listing
April 2019
2 Reads

Granule Cell Neuronopathy in a Patient with Common Variable Immunodeficiency.

J Clin Immunol 2019 Apr 16. Epub 2019 Apr 16.

School of Medicine, University of Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.1007/s10875-019-00624-5DOI Listing
April 2019
1 Read

Progressive Immunodeficiency with Gradual Depletion of B and CD4⁺ T Cells in Immunodeficiency, Centromeric Instability and Facial Anomalies Syndrome 2 (ICF2).

Diseases 2019 Apr 4;7(2). Epub 2019 Apr 4.

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

Immunodeficiency, centromeric instability and facial anomalies syndrome 2 (ICF2) is a rare autosomal recessive primary immunodeficiency disorder. So far, 27 patients have been reported. Here, we present three siblings with ICF2 due to a homozygous ZBTB24 gene mutation (c. Read More

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http://dx.doi.org/10.3390/diseases7020034DOI Listing
April 2019
1 Read

Treatment-Responsive Granulomatous-Lymphocytic Interstitial Lung Disease in a Pediatric Case of Common Variable Immunodeficiency.

Front Pediatr 2019 29;7:105. Epub 2019 Mar 29.

Pediatric Allergy and Immunology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, United States.

Granulomatous-Lymphocytic Interstitial Lung disease (GLILD) is a granulomatous and lymphoproliferative condition occurring in ~25% of Common Variable Immunodeficiency (CVID) patients with the highest prevalence in the late teen to young adult years. GLILD was first described in adults and carries a poor prognosis with survival estimated to be reduced by half. Here we report a pediatric case of CVID-associated GLILD that presented with rapid deterioration over 3 months and responded to adult-based treatment with dual chemotherapeutic agents (rituximab and azathioprine), resulting in complete resolution of clinical findings and near complete resolution of radiologic findings. Read More

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http://dx.doi.org/10.3389/fped.2019.00105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449420PMC
March 2019
1 Read

The Clinical Features of Bronchiectasis Associated with Alpha-1 Antitrypsin Deficiency, Common Variable Immunodeficiency and Primary Ciliary Dyskinesia--Results from the U.S. Bronchiectasis Research Registry.

Chronic Obstr Pulm Dis 2019 Apr 9;6(2). Epub 2019 Apr 9.

Oregon Health Sciences University Hospital, Portland.

Objective: This study compares and contrasts the clinical features of non-cystic fibrosis bronchiectasis with 3 uncommon disorders known to be associated with bronchiectasis but with distinctly different underlying defined pathophysiologic derangements, namely severe alpha-1 antitrypsin deficiency (AATD), common variable immunodeficiency (CVI) and primary ciliary dyskinesia (PCD).

Methods: The Bronchiectasis Research Registry provides a central database for studying patients with non-cystic fibrosis bronchiectasis. This report consists of information from 13 U. Read More

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http://dx.doi.org/10.15326/jcopdf.6.2.2018.0156DOI Listing
April 2019
6 Reads

Common variable immunodeficiency patients display elevated plasma levels of granulocyte activation markers elastase and myeloperoxidase.

Int J Immunopathol Pharmacol 2019 Jan-Dec;33:2058738419843381

1 Department of Clinical Immunology and Allergology, St. Anne's University Hospital, Brno, Czech Republic.

Common variable immunodeficiency disorders (CVIDs) represent a group of primary immunodeficiency diseases characterized by hypogammaglobulinemia and dysfunctional immune response to invading pathogens. Previous studies have indicated that CVID is associated with microbial translocation and systemic myeloid cell activation. The goal of this study was to determine whether patients with CVID display elevated systemic levels of markers of granulocyte activation and whether the levels are further influenced by intravenous immunoglobulin (IVIg) infusions. Read More

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http://dx.doi.org/10.1177/2058738419843381DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6458674PMC
April 2019
1 Read

Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency.

Clin Immunol 2019 Apr 3;203:23-27. Epub 2019 Apr 3.

Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Department of Pediatric Immunology, Rheumatology and Infectious diseases, Meibergdreef 9, Amsterdam, The Netherlands; Amsterdam UMC, University of Amsterdam, Department of Experimental Immunology, Amsterdam Infection & Immunity Institute, Meibergdreef 9, Amsterdam, The Netherlands. Electronic address:

Genetic studies are identifying an increasing number of monogenic causes of Common Variable Immunodeficiency (CVID). Pathogenic variants in the C-terminus of NFKB2 have been identified in the subset of CVID patients whose immunodeficiency is associated with ectodermal dysplasia and central adrenal insufficiency. We describe 2 unrelated CVID pedigrees with 4 cases of pathogenic stop gain variants (c. Read More

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http://dx.doi.org/10.1016/j.clim.2019.03.010DOI Listing
April 2019
2 Reads

Successful liver transplantation in common variable immune deficiency with reversal of hepatopulmonary syndrome.

BMJ Case Rep 2019 Apr 3;12(4). Epub 2019 Apr 3.

Liver Transplant Unit, Austin Health, Heidelberg, Victoria, Australia.

Common variable immune deficiency (CVID) is a primary immunodeficiency disorder that is associated with abnormal liver function tests, however advanced liver disease is uncommon. Hepatopulmonary syndrome (HPS) is a rare but debilitating complication of CVID-associated liver disease. We report a case of CVID complicated by HPS that was successfully treated with orthotopic liver transplant, with the patient recovering to normal hepatic function and successfully weaning off domiciliary oxygen post-transplantation. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22609
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http://dx.doi.org/10.1136/bcr-2018-226095DOI Listing
April 2019
5 Reads

Gut microbiota and immunity in common variable immunodeficiency: crosstalk with pro-inflammatory cytokines.

J Biol Regul Homeost Agents 2019 Mar-Apr,;33(2):315-319

Clinical Immunology Laboratory, Department of Internal Medicine, Fondazione Policlinico Universitario A. Gemelli IRCCS - Università Cattolica del Sacro Cuore, Rome, Italy.

In recent years, gut microbiota (GM) has emerged as a key factor in shaping the pathogenesis of a vast array of immune-mediated diseases, as well as in the response to immune-based treatments such as anti PD-1 and anti-CTLA4 therapy or influenza vaccination. In addition, GM has a significant role in the immune system development and is fundamental in developing mucosal immunity. Recent data suggest that GM plays an important role in the immune system of immune deficient patients. Read More

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April 2019
2 Reads

Severe Facial Herpes Vegetans and Viremia in -Deficient Common Variable Immunodeficiency.

Front Pediatr 2019 19;7:61. Epub 2019 Mar 19.

Division of Allergy and Immunology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, United States.

With the accessibility of next-generation sequencing modalities, an increasing number of primary immunodeficiency disorders (PIDDs) such as common variable immunodeficiency (CVID) have gained improved understanding of molecular pathogenesis and disease phenotype with the identification of a genetic etiology. We report a patient with early-onset CVID due to an autosomal dominant loss-of-function mutation in who developed a severe herpes vegetans cutaneous infection as well as concurrent herpes simplex virus viremia. The case highlights features of CVID, unique aspects of NF-κB2 deficiency including susceptibility to herpesvirus infections, the detection of neutralizing anticytokine antibodies, and the complexity of medical management of patients with a PIDD that can be aided by a known genetic diagnosis. Read More

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http://dx.doi.org/10.3389/fped.2019.00061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6433840PMC
March 2019
2 Reads

Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in .

Front Immunol 2019 19;10:297. Epub 2019 Mar 19.

Faculty of Medicine, Center for Chronic Immunodeficiency (CCI), Medical Center, University of Freiburg, Freiburg, Germany.

Non-canonical NF-κB-pathway signaling is integral in immunoregulation. Heterozygous mutations in have recently been established as a molecular cause of common variable immunodeficiency (CVID) and DAVID-syndrome, a rare condition combining deficiency of anterior pituitary hormone with CVID. Here, we investigate 15 previously unreported patients with primary immunodeficiency (PID) from eleven unrelated families with heterozygous -mutations including eight patients with the common p. Read More

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http://dx.doi.org/10.3389/fimmu.2019.00297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6435015PMC
March 2019
11 Reads

Common variable immunodeficiency syndrome with chronic diarrhoea.

BMJ Case Rep 2019 Mar 31;12(3). Epub 2019 Mar 31.

Department of Gastroenterology, Medanta-The Medicity, Gurgaon, India.

Common variable immunodeficiency syndrome (CVID) is a heterogeneous disorder characterised by diminished levels of IgG, IgA and/or IgM, and recurrent bacterial infections. Sinopulmonary infections are most commonly reported followed by gastrointestinal (GI) infections. GI tract represents the largest immune organ with abundance of lymphoid cells, its involvement can manifest variably ranging from asymptomatic involvement to florid symptoms and signs. Read More

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http://dx.doi.org/10.1136/bcr-2018-228240DOI Listing
March 2019
1 Read

Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2.

J Clin Immunol 2019 Mar 29. Epub 2019 Mar 29.

Department of Clinical Immunology and Allergy, Royal Melbourne Hospital, Parkville, VIC, 3052, Australia.

Common variable immunodeficiency is the most prevalent of the primary immunodeficiency diseases, yet its pathogenesis is largely poorly understood. Of the cases that are monogenic, many arise due to pathogenic variants in NFKB1 and NFKB2. Here, we report enteroviral encephalomyelitis as the cause of a fatal neurodegenerative condition in a patient with a novel heterozygous mutation in NFKB2 (c. Read More

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http://dx.doi.org/10.1007/s10875-019-00602-xDOI Listing
March 2019
2 Reads

Primary immunodeficiencies in adults.

Authors:
Jiří Litzman

Vnitr Lek 2019 ;65(2):109-116

In contrast to general opinion, the issue of primary immunodeficiency is far from just a pediatric medicine; a large number of patients with primary immunodefciencies are not only treated, but also diagnosed in adulthood. The most important manifestation of these diseases are serious, unusual or ill-treatable infections. Some primary immune deficiency diseases manifest themselves in adulthood - mainly common variable immunodeficiency (CVID) and Goods syndrome (hypogammaglobulinemia with thymoma). Read More

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January 2019
1 Read

Castleman Disease in a Patient with Common Variable Immunodeficiency.

Case Reports Immunol 2019 14;2019:5476383. Epub 2019 Feb 14.

Peritoneal Surface Malignancy and Soft Tissue Sarcoma Program, Messina University Medical School Hospital, Messina, Italy.

Common variable immunodeficiency (CVID) is a primary immunodeficiency due to a disorder of the adaptive immune system which causes hypogammaglobulinemia and therefore an increased susceptibility to infection; noninfectious, inflammatory conditions including systemic autoimmunity and lymphoproliferative complications are also commonly associated with CVID. Castleman disease (CD) is a systemic disease clinically characterized by diffuse lymphadenopathy, splenomegaly, anemia, and systemic inflammatory symptoms. This makes CD a great mimicker of more common benign and malignant masses in the neck, chest, abdomen, and pelvis. Read More

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http://dx.doi.org/10.1155/2019/5476383DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393918PMC
February 2019
2 Reads

Point of care HbA level for diabetes mellitus management and its accuracy among tuberculosis patients: a study in four countries.

Int J Tuberc Lung Dis 2019 Mar;23(3):283-292

Population Health Research Institute, St George's University of London, London.

Background: Diabetes mellitus (DM) is common among tuberculosis (TB) patients and often undiagnosed or poorly controlled. We compared point of care (POC) with laboratory glycated haemoglobin (HbA) testing among newly diagnosed TB patients to assess POC test accuracy, safety and acceptability in settings in which immediate access to DM services may be difficult.

Methods: We measured POC and accredited laboratory HbA (using high-performance liquid chromatography) in 1942 TB patients aged 18 years recruited from Peru, Romania, Indonesia and South Africa. Read More

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http://dx.doi.org/10.5588/ijtld.18.0359DOI Listing
March 2019
3 Reads

A Novel Monoallelic Nonsense Mutation in the Gene Does Not Cause a Clinical Manifestation.

Front Genet 2019 26;10:140. Epub 2019 Feb 26.

Department of General Biochemistry, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Kraków, Poland.

NF-κB signaling, acting through dependent canonical and dependent non-canonical pathways plays a critical role in inflammatory and immune responses. Recent studies have associated mutations in these two genes with a common variable immunodeficiency (CVID). While evaluating a female patient seeking a diagnosis explaining her recurrent infections, we found a novel heterozygous c. Read More

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http://dx.doi.org/10.3389/fgene.2019.00140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399389PMC
February 2019

BAFF-driven B cell hyperplasia underlies lung disease in common variable immunodeficiency.

JCI Insight 2019 Mar 7;4(5). Epub 2019 Mar 7.

Division of Clinical Immunology, Department of Medicine.

Background: Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency and is frequently complicated by interstitial lung disease (ILD) for which etiology is unknown and therapy inadequate.

Methods: Medical record review implicated B cell dysregulation in CVID ILD progression. This was further studied in blood and lung samples using culture, cytometry, ELISA, and histology. Read More

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https://insight.jci.org/articles/view/122728
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http://dx.doi.org/10.1172/jci.insight.122728DOI Listing
March 2019
7 Reads

End-stage renal disease secondary to anti-glomerular basement membrane disease in a child with common variable immunodeficiency.

Clin Nephrol Case Stud 2019 1;7:1-6. Epub 2019 Feb 1.

Division of Pediatric Nephrology, Department of Pediatrics.

Background: Anti-glomerular basement membrane (GBM) disease is caused by autoantibodies against the α3-chain of type IV collagen in the GBM. Common variable immunodeficiency (CVID) is a primary immunodeficiency manifested by hypogammaglobulinemia, inability to make functional antibody, and recurrent infections. This report extends the phenotype of CVID-associated autoimmune diseases to include anti-GBM disease. Read More

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http://dx.doi.org/10.5414/CNCS109510DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6374989PMC
February 2019
2 Reads

Defects in memory B-cell and plasma cell subsets expressing different immunoglobulin-subclasses in patients with CVID and immunoglobulin subclass deficiencies.

J Allergy Clin Immunol 2019 Feb 28. Epub 2019 Feb 28.

Department of Medicine, Cancer Research Centre (IBMCC, USAL-CSIC), Cytometry Service (NUCLEUS), University of Salamanca (USAL), Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; Biomedical Research Networking Centre Consortium of Oncology (CIBERONC), number CB16/12/00400, Instituto de Salud Carlos III, Madrid, Spain. Electronic address:

Background: Predominantly antibody deficiencies (PADs) are the most prevalent primary immunodeficiencies, but their B-cell defects and underlying genetic alterations remain largely unknown.

Objective: We investigated patients with PADs for the distribution of 41 blood B-cell and plasma cell (PC) subsets, including subsets defined by expression of distinct immunoglobulin heavy chain subclasses.

Methods: Blood samples from 139 patients with PADs, 61 patients with common variable immunodeficiency (CVID), 68 patients with selective IgA deficiency (IgAdef), 10 patients with IgG subclass deficiency with IgA deficiency, and 223 age-matched control subjects were studied by using flow cytometry with EuroFlow immunoglobulin isotype staining. Read More

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http://dx.doi.org/10.1016/j.jaci.2019.02.017DOI Listing
February 2019
5 Reads

Measuring quality of life of primary antibody deficiency patients using a disease-specific health-related quality of life questionnaire for common variable immunodeficiency (CVID_QoL).

J Patient Rep Outcomes 2019 Feb 26;3(1):15. Epub 2019 Feb 26.

Centre for Rare Disorders, Oslo University Hospital, Rikshospitalet, Postboks 4950 Nydalen, 0424, Oslo, Norway.

Background: Common variable immunodeficiency (CVID) and other primary antibody deficiencies (PAD) are a heterogeneous group of > 300 congenital disorders affecting the immune system. Until recently, efforts to measure health-related quality of life (QoL) in PAD patients have utilised generic QoL tools and disease-specific tools for other conditions. Still, the full impact of the disease is probably not understood. Read More

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http://dx.doi.org/10.1186/s41687-019-0101-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391500PMC
February 2019
1 Read

Pathophysiology, causes and genetics of paediatric and adult bronchiectasis.

Respirology 2019 Feb 25. Epub 2019 Feb 25.

Department of Respiratory Biology, University of Cambridge, Cambridge, UK.

Bronchiectasis has historically been considered to be irreversible dilatation of the airways, but with modern imaging techniques it has been proposed that 'irreversible' be dropped from the definition. The upper limit of normal for the ratio of airway to arterial development increases with age, and a developmental perspective is essential. Bronchiectasis (and persistent bacterial bronchitis, PBB) is a descriptive term and not a diagnosis, and should be the start not the end of the patient's diagnostic journey. Read More

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http://dx.doi.org/10.1111/resp.13509DOI Listing
February 2019
4 Reads

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.

J Allergy Clin Immunol Pract 2019 Feb 15. Epub 2019 Feb 15.

Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address:

Patient registries are instrumental for clinical research in rare diseases. They help to achieve a sufficient sample size for epidemiological and clinical research and to assess the feasibility of clinical trials. The European Society for Immunodeficiencies (ESID) registry currently comprises information on more than 25,000 patients with inborn errors of immunity (IEI). Read More

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http://dx.doi.org/10.1016/j.jaip.2019.02.004DOI Listing
February 2019
4 Reads

Acquired and Innate Immunity Impairment and Severe Disseminated Infection in a Patient With a NF-κB1 Deficiency.

Front Immunol 2018 29;9:3148. Epub 2019 Jan 29.

Research Institute Hospital 12 Octubre (I+12), Madrid, Spain.

NF-κB1 is a master regulator of both acquired and innate responses. loss-of-function mutations elicit a wide clinical phenotype with asymptomatic individuals at one end of the spectrum and patients with common variable immunodeficiency, combined immunodeficiency or autoinflammation at the other. Impairment of acquired and innate immunity and disseminated infection expands the clinical and immunological phenotype of NF-κB1 deficiency. Read More

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http://dx.doi.org/10.3389/fimmu.2018.03148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362422PMC
January 2019
1 Read

A High Prevalence of Gastrointestinal Manifestations in Common Variable Immunodeficiency.

Am J Gastroenterol 2019 Apr;114(4):648-655

Department of Gastroenterology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Objectives: Common variable immunodeficiency (CVID) is associated with a spectrum of autoimmune complications. We studied the prevalence of gastrointestinal (GI) manifestations and infections in patients with CVID.

Methods: Complete clinical data of 132 Finnish patients with CVID (106 probable and 26 possible CVID) followed up between 2007 and 2016 were collected to a structured database. Read More

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http://dx.doi.org/10.14309/ajg.0000000000000140DOI Listing
April 2019
3 Reads

Common Variable Immunodeficiency: Epidemiology, Pathogenesis, Clinical manifestations, Diagnosis, Classification and Management.

J Investig Allergol Clin Immunol 2019 Feb 11. Epub 2019 Feb 11.

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

Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by hypogammaglobulinemia and increased susceptibility to recurrent bacterial infections. It is the most frequent symptomatic antibody deficiency with a wide variety of infectious and non-infectious complications. Numerous studies demonstrated that different immunological and genetic defects are involved in the pathogenesis of CVID. Read More

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http://dx.doi.org/10.18176/jiaci.0388DOI Listing
February 2019
2 Reads
2.642 Impact Factor

British Society for Immunology/United Kingdom Primary Immunodeficiency Network consensus statement on managing non-infectious complications of common variable immunodeficiency disorders.

Clin Exp Immunol 2019 Feb 6. Epub 2019 Feb 6.

Department of Immunology, The Royal London Hospital, Barts Health NHS Trust, London, UK.

Common variable immunodeficiency (CVID) represents a heterogeneous group of rare disorders. There is considerable morbidity and mortality as a result of non-infectious complications, and this presents clinicians with management challenges. Clinical guidelines to support the management of CVID are urgently required. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cei.13272
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http://dx.doi.org/10.1111/cei.13272DOI Listing
February 2019
11 Reads

CVID-Associated Tumors: Czech Nationwide Study Focused on Epidemiology, Immunology, and Genetic Background in a Cohort of Patients With CVID.

Front Immunol 2018 22;9:3135. Epub 2019 Jan 22.

Department of Immunology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czechia.

Common variable immunodeficiency disorder (CVID) is one of the most frequent inborn errors of immunity, increased occurrence of malignancies, particularly lymphomas, and gastric cancers, has long been noted among CVID patients. Multifactorial etiology, including immune dysregulation, infections, chronic inflammation, or genetic background, is suggested to contribute to tumor development. Here, we present the results of the first Czech nationwide study focused on epidemiology, immunology and genetic background in a cohort of CVID patients who also developed tumors The cohort consisted of 295 CVID patients followed for 3,070 patient/years. Read More

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https://www.frontiersin.org/article/10.3389/fimmu.2018.03135
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http://dx.doi.org/10.3389/fimmu.2018.03135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349737PMC
January 2019
10 Reads

Lymphoid Interstitial Pneumonia in Common Variable Immune Deficiency - Case Report With Disease Monitoring in Various Therapeutic Options: Pleiotropic Effects of Rituximab Regimens.

Front Pharmacol 2018 18;9:1559. Epub 2019 Jan 18.

Department of Immunology of Infectious Diseases, Ludwik Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wrocław, Poland.

Lymphoid interstitial pneumonia (LIP) is a rare lymphoproliferative disease. LIP in common variable immunodeficiency (CVID) was observed in a patient during immunomodulatory therapy after progression of the disease (i.e. Read More

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http://dx.doi.org/10.3389/fphar.2018.01559DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346143PMC
January 2019
3 Reads

AWARENESS OF PRIMARY IMMUNODEFICIENCY DISEASES AMONG MEDICAL STUDENTS.

Georgian Med News 2018 Dec(285):124-130

I. Horbachevsky Ternopil State Medical University, Ukraine; Wroclaw Medical University, Poland.

Primary immunodeficiency diseases (PID) are a group of more than 300 rare, chronic disorders in which a part of the body's immune system is missing or functions improperly. The issue of early diagnosis, timely and effective treatment, prevention of complications and improved prognosis remains extremely relevant. The aim of this study was to assess the awareness of graduating medical university students about the signs of primary immunodeficiency in children and adults. Read More

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December 2018
3 Reads

Toll-like receptors pathway in common variable immune deficiency (CVID) and X-linked agammaglobulinemia (XLA).

Eur Cytokine Netw 2018 Nov;29(4):153-158

Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran, Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran, Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.

Common variable immunodeficiency (CVID) and X-linked agammaglobulinemia (XLA) are two major humoral immunodeficiencies, causing a high rate of early age mortality in children. In order to identifiy the possible factors involved in the pathogenesis of CVID and XLA, recent studies have focused on Toll-like receptors (TLRs) and demonstrate the defects in different TLR pathways in immune cells of CVID and XLA patients. Herein, we measured TLR-4 and TLR-9 RNA levels and consequently TNF-α and IFN-α production in peripheral blood mononuclear cells (PBMCs) of patients with CVID and XLA. Read More

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http://dx.doi.org/10.1684/ecn.2018.0420DOI Listing
November 2018
4 Reads
1.960 Impact Factor

Primary immune regulatory disorders for the pediatric hematologist and oncologist: A case-based review.

Pediatr Blood Cancer 2019 May 29;66(5):e27619. Epub 2019 Jan 29.

Department of Hematology, Children's Hospital of Orange County, Orange, California.

An array of monogenic immune defects marked by autoimmunity, lymphoproliferation, and hyperinflammation rather than infections have been described. Primary immune regulatory disorders pose a challenge to pediatric hematologists and oncologists. This paper focuses on primary immune regulatory disorders including autoimmune lymphoproliferative syndrome (ALPS) and ALPS-like syndromes, immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-like disorders, common variable immunodeficiency (CVID), CVID-like, and late-onset combined immunodeficiency (CID) disorders. Read More

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http://dx.doi.org/10.1002/pbc.27619DOI Listing
May 2019
4 Reads

Idiotype-specific intravenous immunoglobulin for therapy of immunoglobulin kappa free light chain deficiency.

Hum Vaccin Immunother 2019 Jan 24:1-3. Epub 2019 Jan 24.

c ENT Department , Maria Sklodowska Curie Children's Emergency Hospital , Bucharest , Romania.

Deficient antibody production in patients with common variable immunodeficiency (CVID) is accompanied by an inability to produce free light chains (FLCs), particularly kappa (κ) FLC, due to B-cell dysfunction. We found that intravenous immunoglobulin (IVIg) administration, in a patient with CVID and (κ) FLC deficiency, for o short period of only 6 months, induced after discontinuation of treatment some kind of "long-lasting active immunity", leading to the secretion of immunoglobulin (κ) FLCs. A remarkable finding of our study is how effectively IVIg therapy led to a calculable (κ/λ) FLCs ratio, within the reference range. Read More

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http://dx.doi.org/10.1080/21645515.2019.1572411DOI Listing
January 2019
3 Reads

Neuroborreliosis in a horse with common variable immunodeficiency.

J Vet Diagn Invest 2019 Mar 19;31(2):241-245. Epub 2019 Jan 19.

Departments of Biomedical Sciences, Section of Anatomic Pathology (Pecoraro, Miller, Duhamel), College of Veterinary Medicine, Cornell University, Ithaca, NY.

Common variable immunodeficiency (CVID) is a rare condition in adult horses characterized by hypogammaglobulinemia and increased susceptibility to parasitic and bacterial infections, including recurrent respiratory diseases, septicemia, and meningitis. Lyme disease is often included as a differential diagnosis in CVID horses with signs of meningitis; however, the Borrelia burgdorferi organism has not been demonstrated previously within central nervous system tissues of CVID horses with neurologic disease, to our knowledge. We report herein a case of neuroborreliosis in a CVID horse, confirmed by combined immunologic testing, histopathology, real-time PCR assay, fluorescent in situ hybridization, and immunohistochemical staining. Read More

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http://dx.doi.org/10.1177/1040638718824146DOI Listing
March 2019
2 Reads

Rifaximin alters gut microbiota profile, but does not affect systemic inflammation - a randomized controlled trial in common variable immunodeficiency.

Sci Rep 2019 Jan 17;9(1):167. Epub 2019 Jan 17.

Research Institute of Internal Medicine, Division of Surgery, Inflammatory Diseases and Transplantation, Oslo University Hospital, Rikshospitalet, Norway.

Common variable immunodeficiency (CVID) patients have reduced gut microbial diversity compared to healthy controls. The reduced diversity is associated with gut leakage, increased systemic inflammation and ten "key" bacteria that capture the gut dysbiosis (dysbiosis index) in CVID. Rifaximin is a broad-spectrum non-absorbable antibiotic known to reduce gut leakage (lipopolysaccharides, LPS) in liver disease. Read More

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http://dx.doi.org/10.1038/s41598-018-35367-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336782PMC
January 2019
3 Reads

Health-Related Quality of Life in Patients with CVID Under Different Schedules of Immunoglobulin Administration: Prospective Multicenter Study.

J Clin Immunol 2019 Feb 15;39(2):159-170. Epub 2019 Jan 15.

Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.

Objective: We assessed the health-related quality of life (HRQoL) in CVID adults receiving different schedules of immunoglobulin replacement therapy (IgRT) by intravenous (IVIG), subcutaneous (SCIG), and facilitated (fSCIG) preparations. For these patients, IgRT schedule was chosen after a period focused on identifying the most suitable individual option.

Methods: Three hundred twenty-seven participants were enrolled in a prospective, observational, 18-month study. Read More

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http://dx.doi.org/10.1007/s10875-019-0592-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445807PMC
February 2019
4 Reads
3.184 Impact Factor

Perceived health of patients with common variable immunodeficiency - a cluster analysis.

Clin Exp Immunol 2019 Apr 13;196(1):76-85. Epub 2019 Jan 13.

Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Common variable immunodeficiency (CVID) is a complex disease with various influences on perceived health, which correlate with different outcomes, including new morbidity and mortality. Our hypothesis was that CVID patients fall into distinct clusters of perceived health which can inform care. Ward hierarchical cluster analysis and K-means cluster analysis were performed on data of 209 CVID patients to identify subgroups regarding their self-reported physical and mental health status, assessed by the physical (PCS) and mental component scores (MCS) of the Short Form-12 (SF-12). Read More

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http://doi.wiley.com/10.1111/cei.13252
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http://dx.doi.org/10.1111/cei.13252DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422638PMC
April 2019
13 Reads

Successful rituximab treatment of granulomatous/lymphocytic interstitial lung disease in common variable immunodeficiency.

Epidemiol Mikrobiol Imunol Winter 2018;67(3):142-148

Successful rituximab treatment of granulomatous/lymphocytic interstitial lung disease in common variable immunodeficiency Common variable immunodeficiency, a heterogeneous group of diseases, represents a clinically relevant form of antibody immunodeficiency. Granulomatous/lymphocytic interstitial lung disease is among the most serious complications. A case report is presented of a young women with granulomatous/lymphocytic interstitial lung disease and splenomegaly accompanied by pancytopenia. Read More

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April 2019
2 Reads

A novel NFKB2 mutation in a Chinese patient with DAVID syndrome.

Gene 2019 03 29;687:319-322. Epub 2018 Dec 29.

Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Shanghai Institute for Pediatric Research, Shanghai, China. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03781119183131
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http://dx.doi.org/10.1016/j.gene.2018.12.050DOI Listing
March 2019
5 Reads

MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations.

Leuk Res 2019 Jan 4;76:70-75. Epub 2018 Dec 4.

Laboratory of Myeloid Malignancies, Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.

Germline mutation in GATA2 can lead to GATA2 deficiency characterized by a complex multi-system disorder that can present with many manifestations including variable cytopenias, bone marrow failure, myelodysplastic syndrome/acute myeloid leukemia (MDS/AML), and severe immunodeficiency. Penetrance and expressivity within families is often variable. There is a spectrum of bone marrow disease in symptomatic cytopenic patients ranging from hypocellular marrows without overt dysplasia to those with definitive MDS, AML, or chronic myelomonocytic leukemia. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01452126183048
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http://dx.doi.org/10.1016/j.leukres.2018.11.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340496PMC
January 2019
14 Reads

High-resolution computed tomography findings in humoral primary immunodeficiencies and correlation with pulmonary function tests.

World J Radiol 2018 Nov;10(11):172-183

Institute of Radiology, Department of Medicine, University of Udine, Azienda Sanitaria Universitaria Integrata di Udine, Udine 33100, Italy.

Aim: To compare high-resolution computed tomography (HRCT) findings between humoral primary immunodeficiencies (hPIDs) subtypes; to correlate these findings to pulmonary function tests (PFTs).

Methods: We retrospectively identified 52 consecutive adult patients with hPIDs who underwent 64-row HRCT and PFTs at the time of diagnosis. On a per-patient basis, an experienced radiologist recorded airway abnormalities (bronchiectasis, airway wall thickening, mucus plugging, tree-in-bud, and air-trapping) and parenchymal-interstitial abnormalities (consolidations, ground-glass opacities, linear and/or irregular opacities, nodules, and bullae/cysts) found on HRCT. Read More

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http://www.wjgnet.com/1949-8470/full/v10/i11/172.htm
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http://dx.doi.org/10.4329/wjr.v10.i11.172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288673PMC
November 2018
19 Reads

Differentiation of Common Variable Immunodeficiency From IgG Deficiency.

J Allergy Clin Immunol Pract 2019 Apr 14;7(4):1277-1284. Epub 2018 Dec 14.

The Division of Clinical Immunology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY. Electronic address:

Background: Common variable immunodeficiency (CVID) and IgG deficiency are 2 of the more prevalent primary humoral immune defects. The former is defined by consensus with criteria for quantitative and qualitative antibody defects, whereas the latter is used to describe patients with reduced IgG, who commonly have recurrent sinopulmonary infections but do not fulfill CVID criteria. However, these patients are often given this diagnosis. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22132198183082
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http://dx.doi.org/10.1016/j.jaip.2018.12.004DOI Listing
April 2019
15 Reads

Central Nervous System Involvement in Common Variable Immunodeficiency: A Case of Acute Unilateral Optic Neuritis in a 26-Year-Old Italian Patient.

Front Neurol 2018 30;9:1031. Epub 2018 Nov 30.

Neurology Unit, Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

Common Variable Immunodeficiency (CVID) is a group of heterogeneous primary immunodeficiencies sharing defective B lymphocytes maturation and dysregulated immune response and resulting in impaired immunoglobulin production. Clinical picture encompasses increased susceptibility to infections, hematologic malignancies, inflammatory, and autoimmune diseases. Neurological manifestations are uncommon and optic neuritis has been previously reported only in one case with bilateral involvement. Read More

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https://www.frontiersin.org/article/10.3389/fneur.2018.01031
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http://dx.doi.org/10.3389/fneur.2018.01031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284006PMC
November 2018
26 Reads

Synergistic convergence of microbiota-specific systemic IgG and secretory IgA.

J Allergy Clin Immunol 2019 Apr 13;143(4):1575-1585.e4. Epub 2018 Dec 13.

Sorbonne Université, INSERM, Centre d'Immunologie et des Maladies Infectieuses (CIMI-Paris), Assistance Publique-Hôpitaux de Paris (AP-HP), Groupement Hospitalier Pitié-Salpêtrière, Département d'Immunologie, Paris, France. Electronic address:

Background: Commensals induce local IgA responses essential to the induction of tolerance to gut microbiota, but it remains unclear whether antimicrobiota responses remain confined to the gut.

Objective: The aim of this study was to investigate systemic and intestinal responses against the whole microbiota under homeostatic conditions and in the absence of IgA.

Methods: We analyzed blood and feces from healthy donors, patients with selective IgA deficiency (SIgAd), and patients with common variable immunodeficiency (CVID). Read More

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http://dx.doi.org/10.1016/j.jaci.2018.09.036DOI Listing
April 2019
25 Reads

Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group.

J Clin Immunol 2019 Jan 13;39(1):45-54. Epub 2018 Dec 13.

Paediatric Immunology Unit, Department of Paediatric Pulmonology, Allergology and Neonatology, Hanover Medical School, Carl-Neuberg Str. 1, 30625, Hannover, Germany.

Studies of chest computed tomography (CT) in patients with primary antibody deficiency syndromes (ADS) suggest a broad range of bronchial pathology. However, there are as yet no multicentre studies to assess the variety of bronchial pathology in this patient group. One of the underlying reasons is the lack of a consensus methodology, a prerequisite to jointly document chest CT findings. Read More

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http://link.springer.com/10.1007/s10875-018-0577-9
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http://dx.doi.org/10.1007/s10875-018-0577-9DOI Listing
January 2019
13 Reads

Humoral immunodeficiencies: conferred risk of infections and benefits of immunoglobulin replacement therapy.

Transfusion 2018 12;58 Suppl 3:3056-3064

Division of Clinical Immunology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York.

Primary immunodeficiency (PID) diseases result from genetic defects of the immune system that increase a patient's susceptibility to infections. The types of infections that occur in patients with PID diseases are dictated largely by the nature of the immunodeficiency, which can be defined by dysfunction of cellular or humoral defenses. An increasing number of PID diseases, including those with both cellular and humoral defects, have antibody deficiency as a major feature, and as a result can benefit from immunoglobulin replacement therapy. Read More

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http://dx.doi.org/10.1111/trf.15020DOI Listing
December 2018
2 Reads

CTLA-4 Expression in CD4+ T Cells From Patients With LRBA Deficiency and Common Variable Immunodeficiency With No Known Monogenic Disease.

J Investig Allergol Clin Immunol 2018 Dec;28(6):422-424

Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

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http://dx.doi.org/10.18176/jiaci.0302DOI Listing
December 2018
3 Reads
2.642 Impact Factor