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