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