Search Results - "Lainka, E."
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Breaking down the fences among registries on autoinflammatory diseases: the E-Merge project
Published in Orphanet journal of rare diseases (17-07-2023)“…Among the various numbers of different autoinflammatory diseases (AIDs), the absolute majority of them remains rare, with a single representative in large…”
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Disease severity in children and adolescents with familial Mediterranean fever: a comparative study to explore environmental effects on a monogenic disease
Published in Annals of the rheumatic diseases (01-02-2009)“…Worldwide, familial Mediterranean fever (FMF) is the most common autoinflammatory disease. It has been suggested that environmental factors affect the…”
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Unravelling the clinical heterogeneity of undefined recurrent fever over time in the European registries on Autoinflammation
Published in Pediatric rheumatology online journal (17-05-2024)“…Systemic autoinflammatory disorders (SAIDs) represent a growing spectrum of diseases characterized by dysregulation of the innate immune system. The most…”
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IL-6 blockade in systemic juvenile idiopathic arthritis - achievement of inactive disease and remission (data from the German AID-registry)
Published in Pediatric rheumatology online journal (05-04-2018)“…Systemic juvenile idiopathic arthritis (sJIA) is a complex disease with an autoinflammatory component of unknown etiology related to the innate immune system…”
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Cholestasis After Pediatric Liver Transplantation–Recurrence of a Progressive Familial Intrahepatic Cholestasis Phenotype as a Rare Differential Diagnosis: A Case Report
Published in Transplantation proceedings (01-09-2017)“…Nonobstructive cholestasis after pediatric liver transplantation is a common diagnostic and therapeutic dilemma. We describe a girl with neonatal cholestasis…”
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Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children
Published in Rheumatology international (01-10-2012)“…Autoinflammatory diseases (AIDs) are characterized by recurrent, self-limiting systemic inflammation. Disorders include hereditary recurrent fever (HRF)…”
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Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics
Published in Rheumatology (Oxford, England) (01-08-2009)“…Objective. TNF receptor 1-associated periodic syndrome (TRAPS) is a rare disease belonging to the heterogeneous group of hereditary periodic fever (HPF)…”
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Familial Mediterranean fever in Germany: epidemiological, clinical, and genetic characteristics of a pediatric population
Published in European journal of pediatrics (01-12-2012)“…Familial Mediterranean fever (FMF) is an autoinflammatory disease and belongs to the heterogeneous group of hereditary recurrent fever syndromes (HRFs). Aims :…”
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Atypical clinical presentation of a severe Tumor Necrosis Factor Receptor-associated Periodic Syndrome (TRAPS) without mutation in the TNFRSF1A gene and good response to anakinra. Case report of a ten year old girl with fever, skin edema and abdominal pain (AID-registry)
Published in Pediatric rheumatology online journal (28-09-2015)Get full text
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Analysis of cryopyrin-associated periodic syndromes (CAPS) in German children: epidemiological, clinical and genetic characteristics
Published in Klinische Padiatrie (01-11-2010)“…Cryopyrin-associated periodic syndromes (CAPS) are rare disorders belonging to the group of hereditary periodic fever (HPF)syndromes. These auto-inflammatory…”
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Colchicine therapy in children with FMF
Published in Pediatric rheumatology online journal (28-09-2015)Get full text
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Genotype-phenotype and genotype-origin correlations in children with mediterranean fever in Germany - an AID-net study
Published in Klinische Padiatrie (01-11-2013)“…Familial Mediterranean fever (FMF) is the most inherited common autoinflammatory disease (AID) with mutations in the MEFV (MEditerraneanFeVer) gene.The Mor-…”
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Self-medication to treat pain in attacks of familial Mediterranean fever: aiming to find a new approach to pain management
Published in Schmerz (Berlin, Germany) (01-12-2013)“…Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by bouts of fever and serositis. Morbidity caused by bouts as well as…”
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Genetic fever syndromes. Hereditary recurrent (periodic) fever syndromes
Published in Zeitschrift für Rheumatologie (01-05-2013)“…Genetic fever syndromes or hereditary recurrent fever syndromes (HRF) are considered to be part of the autoinflammatory diseases (AID) which result from errors…”
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OC48 Odevixibat therapy in patients with FIC1-deficient progressive familial intrahepatic cholestasis and severe diarrhoea following liver transplantation: a retrospective case series
Published in Frontline gastroenterology (01-07-2023)“…Features of progressive familial intrahepatic cholestasis due to deficiency in FIC1 (encoded by ATP8B1; PFIC1) may include disrupted bile acid handling,…”
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Prevalence and complications of uveitis in juvenile idiopathic arthritis in a population-based nation-wide study in Germany: suggested modification of the current screening guidelines
Published in Rheumatology (Oxford, England) (01-06-2007)“…Objectives. To analyse the prevalence and complications of uveitis and their predictors in a large cohort of patients with juvenile idiopathic arthritis (JIA)…”
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Rekurrierende Fiebersyndrome – Subgruppe der autoinflammatorischen Erkrankungen
Published in Monatsschrift Kinderheilkunde (01-05-2021)“…Zusammenfassung Rekurrierende Fiebersyndrome werden pathophysiologisch zu den autoinflammatorischen Erkrankungen (AID) gezählt. Die klassischen seltenen…”
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Evaluation of the Prevalence and Clinical Significance of Elevated Igg Levels in Pediatric Liver Transplant Recipients: 1816
Published in Transplantation (01-11-2012)Get full text
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