Author: Stephen Jolles

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AUTHOR

Stephen Jolles

showing 4 related works from this author

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

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Health-Related Quality of Life of Patients with Primary Immunodeficiency Switching from Intravenous IgG to a New 20% Subcutaneous IgG

2010

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European Guidelines (S1) on the use of high‐dose intravenous immunoglobulin in dermatology

2016

Background The treatment of severe dermatological autoimmune diseases and toxic epidermal necrolysis (TEN) with high-dose intravenous immunoglobulin (IVIg) is a well-established procedure in dermatology. As treatment with IVIg is usually considered for rare clinical entities or severe clinical cases, the use of immunoglobulin is not generally based on data from randomized controlled trials that are usually required for the practice of evidence-based medicine. Owing to the rarity of the indications for the use of IVIg, it is also unlikely that such studies will be available in the foreseeable future. Because the high costs of IVIg treatment also limit its first-line use, the first clinical g…

0301 basic medicinemedicine.medical_specialtyMEDLINEHigh dose intravenous immunoglobulin610 Medicine & healthEuropean Guidelines (S1) high-dose intravenous immunoglobulinDermatologySkin DiseasesDrug Administration Schedulelaw.inventionAutoimmune Diseases2708 Dermatology030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicineRandomized controlled triallawhemic and lymphatic diseasesintravenous immunoglobulinmedicineHumanshigh-doseEvidence-Based MedicineDose-Response Relationship Drugbusiness.industryDermatological diseases10177 Dermatology ClinicImmunoglobulins Intravenous2725 Infectious DiseasesEvidence-based medicinemedicine.diseaseDermatologyToxic epidermal necrolysisEuropeInfectious Diseases030104 developmental biologyEuropean Guidelines (S1)Dermatology clinicStevens-Johnson SyndromeInjections IntravenousEuropean Guidelines (S1) high-dose intravenous immunoglobulin dermatologyDrug MonitoringbusinessJDDG: Journal der Deutschen Dermatologischen Gesellschaft

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Europäische Leitlinien (S1) für die Anwendung von hochdosierten intravenösen Immunglobulinen in der Dermatologie.

2017

Hintergrund und Ziele Die Behandlung schwerer dermatologischer Autoimmunerkrankungen und der toxischen epidermalen Nekrolyse (TEN) mit hochdosierten intravenosen Immunglobulinen (IVIg) ist ein bewahrtes therapeutisches Verfahren in der Dermatologie. Da eine IVIg‐Therapie in der Regel nur bei seltenen Erkrankungen oder bei schweren Fallen in Betracht gezogen wird, stutzt sich die Anwendung von Immunglobulinen zumeist nicht auf Daten aus randomisierten kontrollierten Studien, wie sie in der evidenzbasierten Medizin erforderlich sind. Da Indikationen fur die Anwendung von IVIg selten sind, ist es unwahrscheinlich, dass solche Studien in absehbarer Zeit durchgefuhrt werden. Wegen der hohen Kost…

Gynecologymedicine.medical_specialtytherapyexpert consensusbusiness.industryDermatologyautoimmune diseases dosing therapy expert consensus decision treedosing030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicine030220 oncology & carcinogenesisdecision treemedicineautoimmune diseasesbusinessJournal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

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