Source: Assises de Génétique Humaine et Médicale ; https://inserm.hal.science/inserm-04412198 ; Assises de Génétique Humaine et Médicale, Jan 2024, Paris, France

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Late-onset expression of an autoinflammatory disease: Identification and functional characterization of a mosaic variant in NLRC4 ; Expression tardive d’une maladie autoinflammatoire : identification et caractérisation fonctionnelle d’une variation de NLRC4 en mosaïque

Authors : Diab, Farah; Louvrier, Camille; Fabre, Marc ...

Subjects: Maladie autoinflammatoire; immunité; mosaïcismeParis; France

Source: Assises de Génétique Humaine et Médicale ; https://inserm.hal.science/inserm-04405530 ; Assises de Génétique Humaine et Médicale, Jan 2024, Paris, France

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Academic Journal

A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation

Authors : El Khouri, Elma; Diab, Farah; Louvrier, Camille ...

Subjects: A20; A20 haploinsufficiency; TNFAIP3

Source: EISSN: 2050-084X ; eLife ; https://inserm.hal.science/inserm-04148971 ; eLife, 2023, 12, pp.e81280. ⟨10.7554/eLife.81280⟩

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Academic Journal

De novo gain‐of‐function variations in LYN lead to an early onset systemic autoinflammatory disorder

Authors : Louvrier, Camille; El Khouri, Elma; Grall Lerosey, Martine ...

Subjects: KINASE; [SDV]Life Sciences [q-bio]; [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Source: ISSN: 2326-5205.

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Academic Journal

RNF213-associated urticarial lesions with hypercytokinemia

Authors : Louvrier, Camille; Awad, Fawaz; Cosnes, Anne ...

Subjects: RNF213; hypercytokinemia; urticarial lesions

Source: ISSN: 0091-6749 ; Journal of Allergy and Clinical Immunology ; https://inserm.hal.science/inserm-03776857 ; Journal of Allergy and Clinical Immunology, 2022, Online ahead of print.

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Academic Journal

Mosaic variants in TNFRSF1A : an emerging cause of tumour necrosis factor receptor-associated periodic syndrome

Authors : Assrawi, Eman; Louvrier, Camille; El Khouri, Elma ...

Subjects: TNFRSF1A; Autoinflammatory disease; NGS

Source: ISSN: 1462-0324.

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Academic Journal

NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations

Authors : Louvrier, Camille; Assrawi, Eman; El Khouri, Elma ...

Subjects: NLRP3; NLRP3-associated autoinflammatory diseases; NLRP3-inflammasome activation

Source: ISSN: 0091-6749 ; Journal of Allergy and Clinical Immunology ; https://inserm.hal.science/inserm-03782874 ; Journal of Allergy and Clinical Immunology, 2020, 145 (4), pp.1254-1261.

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Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria

Authors : Assrawi, Eman; Louvrier, Camille; Lepelletier, Clémence ...

Subjects: [SDV]Life Sciences [q-bio]; [SDV.GEN]Life Sciences [q-bio]/Genetics; [SDV.IMM]Life Sciences [q-bio]/Immunology

Source: ISSN: 0022-202X.

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Expression of SAA1, SAA2 and SAA4 genes in human primary monocytes and monocyte-derived macrophages

Authors : Jumeau, Claire; Awad, Fawaz; Assrawi, Eman ...

Subjects: [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry; Molecular Biology/Genomics [q-bio.GN]; [SDV.IMM.II]Life Sciences [q-bio]/Immunology/Innate immunity

Source: ISSN: 1932-6203.

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The NLRP3 p.A441V Mutation in NLRP3 ‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event

Authors : Awad, Fawaz; Assrawi, Eman; Jumeau, Claire ...

Subjects: IL‐1β; NLRP3; NLRP3‐AID

Source: ISSN: 2578-5745 ; ACR Open Rheumatology ; https://inserm.hal.science/inserm-03780414 ; ACR Open Rheumatology, 2019, 1 (4), pp.267-276. ⟨10.1002/acr2.1039⟩.

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