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