Search results for "common variable immunodeficiency"

showing 6 items of 6 documents

Characterization of the Clinical and Immunologic Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 Mutations

2020

Contains fulltext : 229571.pdf (Publisher’s version ) (Closed access) 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. To provide evidence for pathogenicity, each variant was assessed in silico; in addition, 32 variants were assessed by functional in vitro testing of nuclear factor of kappa light polypeptide gene enhancer in B cells (NF-κB) signaling. RESU…

0301 basic medicineMaleNF-KAPPA-BMedizinlnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4]Fluorescent Antibody TechniqueAutoimmunityDiseaseNUCLEAR-FACTORKaplan-Meier Estimatemedicine.disease_causeHypogammaglobulinemia0302 clinical medicineNFKB1 variants and mutations; autosomal dominant inheritance; common variable immunodeficiency; reduced penetrance; variable expressivityHDE PEDImmunology and Allergyvariants and mutationsNF-κB1-related phenotypeImmunodeficiencyIMMUNODEFICIENCY*NF-?B1-related phenotypeNFKB1 variants and mutations1184 Genetics developmental biology physiologycommon variable immunodeficiencyDisease ManagementMiddle AgedNF-kappa B1-related phenotypereduced penetrancePrognosisPenetranceImmunohistochemistryMagnetic Resonance Imaging3. Good healthPhenotypeNFKB1 variant*NFKB1 variant*common variable immunodeficiencyFemaleHaploinsufficiency*reduced penetranceNFKB1 mutationAdultHeterozygote*NFKB1 mutationImmunologyHAPLOINSUFFICIENCYArticle03 medical and health sciencesvariable expressivityautosomal dominantmedicineHumansGenetic Predisposition to DiseaseGenetic Association StudiesAgedbusiness.industryCommon variable immunodeficiencyNF-kappa B p50 SubunitNF-KAPPA-B1Immune dysregulationmedicine.diseaseautosomal dominant inheritance030104 developmental biologyBiological Variation PopulationImmunologyCELLSMutation*autosomal dominantPrimary immunodeficiency3111 BiomedicinebusinessTomography X-Ray ComputedBiomarkers030215 immunology
researchProduct

Chronic Spontaneous Urticaria in Patients with Common Variable Immunodeficiency

2018

Common variable immunodeficiency (CVID) is a predominantly antibody deficiency and is one of the most common primary immunodeficiencies in adulthood. Replacement therapy with Ig has significantly reduced infectious complications; however, malignant, autoimmune, and inflammatory diseases are still current major causes of morbidity and mortality. In recent years, interest has increased regarding allergic manifestations that may be associated with primary immunodeficiencies; however, no data are currently available on chronic spontaneous urticaria (CSU). In this report, the authors describe CSU in patients with CVID attending their centre. Three CVID patients were affected by CSU and were unre…

chronic spontaneous urticaria (csu)common variable immunodeficiency (cvid)mast cell (mc)primary immunodeficiency (pid)autoimmunitylcsh:Rpredominantly antibody deficiencyomalizumablcsh:Medicineautologous serum skin test (asst)cyclosporineEuropean Medical Journal
researchProduct

A difficult diagnosis of coeliac disease: Repeat duodenal histology increases diagnostic yield in patients with concomitant causes of villous atrophy

2018

Abstract Villous atrophy in absence of coeliac disease (CD)-specific antibodies represents a diagnostic dilemma. We report a case of a woman with anaemia, weight loss and diarrhoea with an initial diagnosis of seronegative CD and a histological documented villous atrophy who did not improve on gluten-free diet due to the concomitant presence of common variable immunodeficiency (CVID) and Giardia lamblia infection. This case report confirms that CD diagnosis in CVID patients is difficult; the combination of anti-endomysial antibodies (EmA-IgA), anti-tissue transglutaminase antibodies (tTG-IgAb) antibodies and total IgA is obligatory in basic diagnostic of CD but in CVID are negative. Further…

Adultmedicine.medical_specialtySettore MED/09 - Medicina InternaTissue transglutaminaseDuodenumGastroenterologyImmunoglobulin DCoeliac diseaseIntestinal histology03 medical and health sciencesGiardia lamblia infection0302 clinical medicineIntestinal mucosaInternal medicinemedicineHumansCoeliac disease; Common variable immunodeficiency; Giardia lamblia infection; Intestinal histology; Villous atrophyVillous atrophybiologyCoeliac diseasebusiness.industryCommon variable immunodeficiencyGastroenterologyHistologymedicine.diseaseCeliac DiseaseCommon Variable Immunodeficiency030220 oncology & carcinogenesisConcomitantbiology.protein030211 gastroenterology & hepatologyFemaleAtrophybusinessVillous atrophy
researchProduct

Persistent SARS-CoV-2 infection with repeated clinical recurrence in a patient with common variable immunodeficiency

2021

This work was co-financed by the European Union through the Operational Programme of the European Regional Development Fund of Valencia Region (Spain) 2014–2020.

Microbiology (medical)2019-20 coronavirus outbreakCoronavirus disease 2019 (COVID-19)SARS-CoV-2business.industryCommon variable immunodeficiencySevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2)COVID-19General Medicinemedicine.diseaseVirologyCommon Variable ImmunodeficiencyInfectious DiseasesClinical recurrencemedicineHumansbusinessLetter to the EditorPulmons Malalties
researchProduct

Efficacy of rituximab as a single-agent therapy for the treatment of granulomatous and lymphocytic interstitial lung disease in patients with common …

2019

OncologyAdultMalemedicine.medical_specialtyMEDLINEYoung AdultText miningInternal medicinemedicineImmunology and AllergyHumansImmunologic FactorsSingle agentIn patientYoung adultbusiness.industryCommon variable immunodeficiencyInterstitial lung diseasemedicine.diseaseRespiratory Function TestsCommon Variable ImmunodeficiencyTreatment OutcomeRituximabFemalebusinessLung Diseases InterstitialRituximabmedicine.drugThe journal of allergy and clinical immunology. In practice
researchProduct

The role of ICOS in directing T cell responses: ICOS-dependent induction of T cell anergy by tolerogenic dendritic cells.

2009

Abstract Tolerogenic dendritic cells (DC) play an important role in maintaining peripheral T cell tolerance in steady-state conditions through induction of anergic, IL-10-producing T cells with suppressive properties. ICOS, an activation-induced member of the CD28 family on T cells, is involved in the induction of IL-10, which itself could contribute to induction of anergy and development of suppressive T cells. Therefore, we analyzed the functional role of ICOS in the differentiation process of human CD4+ T cells upon their interaction with tolerogenic DC. We compared the functional properties of CD4+ T cells from healthy volunteers and ICOS-deficient patients after stimulation with tolero…

Antigens Differentiation T-LymphocyteT cellT-LymphocytesImmunologyLymphocyte ActivationT-Lymphocytes RegulatoryInducible T-Cell Co-Stimulator ProteinInterleukin 21medicineImmunology and AllergyCytotoxic T cellHumansIL-2 receptorAntigen-presenting cellCells CulturedClonal AnergyChemistryPeripheral toleranceCell DifferentiationDendritic CellsNatural killer T cellCoculture TechniquesCell biologyInterleukin-10ICOS LIGANDmedicine.anatomical_structureCommon Variable ImmunodeficiencyGene Knockdown TechniquesImmunologyJournal of immunology (Baltimore, Md. : 1950)
researchProduct