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CARTOHAL
Mots clés
Rare lung diseases
NLRP3
COVID-19
Mutation
Maladies auto-inflammatoires
Amyloidosis
PCD
Biomarkers
Infertility
Adult
Male
Androgens
Female
Inflammation
Lung function
TNFRSF1A
Interleukine 1
Humans
Cystic fibrosis
Children
Kartagener syndrome
TCF4
ABCA3
Adipokines
Phenotype
Paediatric interstitial lung disease
Adrenal tumors
Lipodystrophy
Mortality
Fibrose pulmonaire
Intellectual disability
Dynein
Osteosarcoma
TRAPS
Colchicine
Pyrine
Rare diseases
AA amyloidosis
Surfactant
Autoinflammatory syndrome
Male infertility
Autoinflammation
Genetic analysis
Primary ciliary dyskinesia
Inflammasome
Premature ovarian insufficiency
CCDC39
Classification
Situs inversus
Amylose AA
Dynein arm assembly
Pyrin
Pulmonary hypertension
Cohort
Genetic counselling
France
GHRHR
Autoinflammatory disease
Mosaic
Pulmonary fibrosis
Atherosclerosis
MEFV
Biopsy
NGS
Insulin resistance
Common interstitial lung disease
Pneumopathie interstitielle diffuse
Management
Interstitial lung disease
Genetics
Airways
Founder effect
Fièvre méditerranéenne familiale
Allergic bronchopulmonary aspergillosis
SARS-CoV-2
Human
TNFAIP3
Bronchiectasis
Pregnancy
Adolescent
CRISPR-Cas9
Cytokines
Serum amyloid A
Sarcoidosis
Diagnosis
Mutations
Autoimmunity
Vasculitis
Cilia
Idiopathic pulmonary fibrosis
Familial mediterranean fever
Turner syndrome
Aged
Biopsie
A20 haploinsufficiency
Infant
AL amyloidosis
Pituitary
Familial Mediterranean fever
Derniers dépôts
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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⟩
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Bruno Donadille, Sonja Janmaat, Héléna Mosbah, Inès Belalem, Sophie Lamothe, et al.. Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center. Orphanet Journal of Rare Diseases, 2024, 19 (1), pp.177. ⟨10.1186/s13023-024-03173-2⟩. ⟨inserm-04562484⟩
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Lucie Thomas, Laurence Cuisset, Jean-Francois 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. Journal of Medical Genetics, 2024, pp.jmg-2023-109700. ⟨10.1136/jmg-2023-109700⟩. ⟨inserm-04557687⟩
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Vincent Cottin, Philippe Bonniaud, Jacques Cadranel, Bruno Crestani, Stéphane Jouneau, et al.. French practical guidelines for the diagnosis and management of idiopathic pulmonary fibrosis – 2021 update. Full-length version. Respiratory Medicine and Research, 2023, 83, pp.100948. ⟨10.1016/j.resmer.2022.100948⟩. ⟨hal-04087431⟩
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Muriel Le Bourgeois, Agnès Ferroni, Marianne Leruez-Ville, Emmanuelle Varon, Caroline Thumerelle, et al.. Nonsteroidal Anti-Inflammatory Drug without Antibiotics for Acute Viral Infection Increases the Empyema Risk in Children: A Matched Case-Control Study. The Journal of Pediatrics, 2016, 175, pp.47-53.e3. ⟨10.1016/j.jpeds.2016.05.025⟩. ⟨inserm-04152522⟩
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