Search Results - "DE SOMER, Lien"
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ADA2 Deficiency Mimicking Idiopathic Multicentric Castleman Disease
Published in Pediatrics (Evanston) (01-09-2018)“…Multicentric Castleman disease (MCD) is a rare entity that, unlike unicentric Castleman disease, involves generalized polyclonal lymphoproliferation, systemic…”
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2
Synovial Fluid Neutrophils From Patients With Juvenile Idiopathic Arthritis Display a Hyperactivated Phenotype
Published in Arthritis & rheumatology (Hoboken, N.J.) (01-05-2021)“…Objective Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in childhood. The predominant subtypes, oligoarticular and polyarticular…”
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3
Mepolizumab in childhood onset steroid dependent eosinophilic granulomatosis with polyangiitis
Published in Pediatric pulmonology (01-01-2021)Get full text
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4
Fast and furious: The neutrophil and its armamentarium in health and disease
Published in Medicinal research reviews (01-09-2023)“…Neutrophils are powerful effector cells leading the first wave of acute host‐protective responses. These innate leukocytes are endowed with oxidative and…”
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5
Inflammatory Gene Expression Profile and Defective Interferon‐γ and Granzyme K in Natural Killer Cells From Systemic Juvenile Idiopathic Arthritis Patients
Published in Arthritis & rheumatology (Hoboken, N.J.) (01-01-2017)“…Objective Systemic juvenile idiopathic arthritis (JIA) is an immunoinflammatory disease characterized by arthritis and systemic manifestations. The role of…”
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6
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC‐7 Mutants
Published in Journal of bone and mineral research (01-03-2021)“…ABSTRACT ClC‐7 is a chloride‐proton antiporter of the CLC protein family. In complex with its accessory protein Ostm‐1, ClC‐7 localizes to lysosomes and to the…”
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Two Cases Presenting With Unilateral Adduction Deficit Associated With Human Adenosine Deaminase 2 Deficiency
Published in Journal of pediatric ophthalmology and strabismus (01-07-2021)“…Deficiency of human adenosine deaminase 2 (DADA2) is an auto-inflammatory inborn error of immunity caused by biallelic deleterious mutations in the gene…”
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Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency
Published in Journal of clinical immunology (01-11-2021)“…Purpose Deficiency of adenosine deaminase type 2 (ADA2) (DADA2) is a rare inborn error of immunity caused by deleterious biallelic mutations in ADA2 . Clinical…”
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9
Insufficient IL-10 Production as a Mechanism Underlying the Pathogenesis of Systemic Juvenile Idiopathic Arthritis
Published in The Journal of immunology (1950) (01-11-2018)“…Systemic juvenile idiopathic arthritis (sJIA) is a childhood-onset immune disorder of unknown cause. One of the concepts is that the disease results from an…”
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10
Dry synovitis, a rare entity distinct from juvenile idiopathic arthritis
Published in Pediatric rheumatology online journal (23-01-2023)“…Dry synovitis (DS) is a rare entity as only a few cases have been reported to date. We describe the clinical features, radiological manifestations and course…”
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11
Novel method to quantify peptidylarginine deiminase activity shows distinct citrullination patterns in rheumatoid and juvenile idiopathic arthritis
Published in Frontiers in immunology (30-01-2023)“…Peptidylarginine deiminases (PADs) mediate citrullination, an irreversible posttranslational modification that converts arginine to citrulline residues in…”
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12
Warts and DADA2: a Mere Coincidence?
Published in Journal of clinical immunology (01-11-2018)Get full text
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13
Phenotypical and Functional Characterization of Neutrophils in Two Pyrin-Associated Auto-inflammatory Diseases
Published in Journal of clinical immunology (01-07-2021)“…Purpose Familial Mediterranean Fever (FMF) and Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis (PAAND) are clinically distinct autoinflammatory…”
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14
From ELISA to Immunosorbent Tandem Mass Spectrometry Proteoform Analysis: The Example of CXCL8/Interleukin-8
Published in Frontiers in immunology (11-03-2021)“…With ELISAs one detects the ensemble of immunoreactive molecules in biological samples. For biomolecules undergoing proteolysis for activation, potentiation or…”
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15
Chronic nonbacterial osteomyelitis in children: a multicentre Belgian cohort of 30 children
Published in Pediatric rheumatology online journal (13-06-2022)“…To evaluate clinical characteristics, imaging findings, therapeutic approach and outcome of paediatric patients with Chronic Non-Bacterial Osteomyelitis (CNO)…”
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16
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
Published in Journal of clinical immunology (01-04-2016)Get full text
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Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report
Published in Orphanet journal of rare diseases (08-12-2010)“…Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental…”
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18
Recipient lymphocyte infusion in MHC-matched bone marrow chimeras induces a limited lymphohematopoietic host-versus-graft reactivity but a significant antileukemic effect mediated by CD8+ T cells and natural killer cells
Published in Haematologica (Roma) (01-03-2011)“…Challenge of MHC-mismatched murine bone marrow chimeras with recipient-type lymphocytes (recipient lymphocyte infusion) produces antileukemic responses in…”
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A review of the pleiotropic actions of the IFN-inducible CXC chemokine receptor 3 ligands in the synovial microenvironment
Published in Cellular and molecular life sciences : CMLS (01-03-2023)“…Chemokines are pivotal players in instigation and perpetuation of synovitis through leukocytes egress from the blood circulation into the inflamed…”
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20
Reversible Hypothalamic Obesity in a Girl with Suprasellar Tuberculoma
Published in Hormone research in paediatrics (01-04-2024)“…Suprasellar tuberculoma are extremely rare in children and most of those patients present with headache, vomiting, visual disturbances, and hypofunction of the…”
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