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