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