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Recherche
CARTOHAL
Mots clés
Electron microscopy
Phenotype
TNFRSF1A
Cytokines
Autoinflammation
Turner syndrome
Serum amyloid A
Interstitial lung disease
Human
PCD
Interleukine 1
Amylose AA
Adrenal tumors
NLRC4
Male
COVID-19
Pulmonary fibrosis
Idiopathic pulmonary fibrosis
Cohort
Pulmonary hypertension
Children
Mutations
NGS
CRISPR-Cas9
MEFV
Fièvre méditerranéenne familiale
Primary ciliary dyskinesia
Pyrine
Management
AL amyloidosis
Adult
Fibrose pulmonaire
Maladies auto-inflammatoires
GHRHR
ABCA3
Pituitary
Autoinflammatory disease
Insulin resistance
Adolescent
Situs inversus
NLRP3
Dynein
Pneumopathie interstitielle diffuse
Colchicine
Classification
Biomarkers
France
Cystic fibrosis
Atherosclerosis
Biopsy
Intellectual disability
Founder effect
Genetics
Biopsie
Infant
Mutation
Diagnosis
Autoinflammatory syndrome
Prognosis
Kartagener syndrome
Infertility
Amyloidosis
Mortality
ICSI
Mosaic
TCF4
Premature ovarian insufficiency
Lung function
Pregnancy
Cilia
AA amyloidosis
Familial Mediterranean fever
Rare diseases
Male infertility
TNFAIP3
Female
Autoimmunity
A20 haploinsufficiency
Adipokines
Osteosarcoma
Sarcoidosis
Rare lung diseases
Lipodystrophy
Inflammasome
Bronchiectasis
CCDC39
Surfactant
Inflammation
Vasculitis
TRAPS
Genetic counselling
Common interstitial lung disease
Familial mediterranean fever
Dynein arm assembly
SARS-CoV-2
Humans
Pyrin
Genetic analysis
Paediatric interstitial lung disease
Derniers dépôts
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Farah Diab, Camille Louvrier, Marc Fabre, Mira Rabbaa, Aphrodite Daskalopoulou, et al.. Late-onset expression of an autoinflammatory disease: Identification and functional characterization of a mosaic variant in NLRC4. European Society of Human Genetics, Jun 2024, Berlin (Germany), Germany. ⟨inserm-04674678⟩
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Rahma Mani, Mafalda Gomes, Adrián Rodríguez González, Claire Hogg, Deborah Morris-Rosendahl, et al.. Development and first results of the BEAT PCD international Primary Ciliary Dyskinesia gene variant database: CiliaVar. ERS International Congress 2021, in session “Prediction of exacerbations in patients with COPD”, Sep 2021, Online, United Kingdom. European Respiratory Society, pp.PA3458, ⟨10.1183/13993003.congress-2021.PA3458⟩. ⟨inserm-04121677v2⟩
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Marion Delplanque, Lionel Galicier, Eric Oziol, Stéphanie Ducharme-Bénard, Eric Oksenhendler, et al.. AA Amyloidosis Secondary to Primary Immune Deficiency: About 40 Cases Including 2 New French Cases and a Systematic Literature Review. Journal of Allergy and Clinical Immunology: In Practice, 2021, 9 (2), pp.745-752.e1. ⟨10.1016/j.jaip.2020.09.023⟩. ⟨inserm-04050271⟩
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Nadia Nathan, Blandine Prevost, Sidonie Lambert, Aurélie Schnuriger, Harriet Corvol. Severe Acute Respiratory Syndrome Coronavirus 2 Variant Delta Infects All 6 Siblings but Spares Comirnaty (BNT162b2, BioNTech/Pfizer)-Vaccinated Parents. Journal of Infectious Diseases, 2021, 224 (11), pp.1984-1986. ⟨10.1093/infdis/jiab410⟩. ⟨hal-03827740⟩
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Marie‐hélène Odièvre, Charles Marcellus, Hubert Ducou Le Pointe, Slimane Allali, Anne‐sophie Romain, et al.. Dramatic improvement after tocilizumab of severe COVID ‐19 in a child with sickle cell disease and acute chest syndrome. American Journal of Hematology, 2020, 95 (8), ⟨10.1002/ajh.25855⟩. ⟨hal-03827781⟩
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Lucie Thomas, Laurence Cuisset, Jean-François Papon, Aline Tamalet, Isabelle Pin, et al.. Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia. The European Society of Human Genetics, Jun 2024, Berlin (DE), Germany. ⟨inserm-04614713⟩
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Julien Bermudez, Nadia Nathan, Benjamin Coiffard, Antoine Roux, Sandrine Hirschi, et al.. Outcome of lung transplantation for adults with interstitial lung disease associated with genetic disorders of the surfactant system. ERJ Open Research, 2023, 9 (6), pp.00240-2023. ⟨10.1183/23120541.00240-2023⟩. ⟨hal-04517578⟩