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