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CARTOHAL
Mots clés
Inflammation
Paediatric interstitial lung disease
Mutation
AA amyloidosis
NGS
Maladies auto-inflammatoires
Rare lung diseases
Premature ovarian insufficiency
Prognosis
NLRP3
Primary ciliary dyskinesia
Genetic analysis
TRAPS
Serum amyloid A
MEFV
Cohort
Pituitary
TNFAIP3
Interleukine 1
Autoinflammatory disease
France
Diagnosis
Idiopathic pulmonary fibrosis
Surfactant
Biomarkers
Bronchiectasis
Familial mediterranean fever
Lipodystrophy
Mortality
Sarcoidosis
ABCA3
Female
Turner syndrome
Pulmonary hypertension
CRISPR-Cas9
GHRHR
Autoimmunity
Adrenal tumors
Cytokines
Management
Biopsie
Humans
Electron microscopy
Vasculitis
Osteosarcoma
Amylose AA
Male infertility
Phenotype
Autoinflammation
Biopsy
Pneumopathie interstitielle diffuse
Autoinflammatory syndrome
Adolescent
Founder effect
Atherosclerosis
Dynein
Kartagener syndrome
Fibrose pulmonaire
Classification
Mosaic
Adult
Amyloidosis
Insulin resistance
Mutations
Children
ICSI
Pregnancy
Genetics
TCF4
Fièvre méditerranéenne familiale
TNFRSF1A
Inflammasome
Infant
Colchicine
SARS-CoV-2
Adipokines
Pyrine
Human
A20 haploinsufficiency
Cilia
Pyrin
Situs inversus
Male
Dynein arm assembly
PCD
Common interstitial lung disease
AL amyloidosis
NLRC4
Pulmonary fibrosis
Genetic counselling
Infertility
Intellectual disability
Rare diseases
Familial Mediterranean fever
CCDC39
Lung function
Interstitial lung disease
COVID-19
Cystic fibrosis
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⟩