Luis Seabra

Paris, 75015, France

Last Updated: 09/26/2026

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Found 34 publications

Type I interferon signature does not correlate with disease activity in Blau syndrome.

Type I interferon signature does not correlate with disease activity in Blau syndrome.

Journal: Pediatric research

Published: January 28, 2026

Familial lupus associated with a P2RY8 variant: Navigating the boundary between monogenic disease and genetic susceptibility to lupus.

Familial lupus associated with a P2RY8 variant: Navigating the boundary between monogenic disease and genetic susceptibility to lupus.

Journal: Journal of human immunity

Published: January 14, 2026

ADAR1 loss-of-function variants altering RNA editing define a new interferon-dependent psoriasis subtype.

ADAR1 loss-of-function variants altering RNA editing define a new interferon-dependent psoriasis subtype.

Journal: The Journal of experimental medicine

Published: January 10, 2026

The STING HAQ haplotype and clinical non-penetrance in COPA syndrome.

The STING HAQ haplotype and clinical non-penetrance in COPA syndrome.

Journal: The Journal of experimental medicine

Published: July 18, 2025

Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome.

Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome.

Journal: Annals of the rheumatic diseases

Published: March 18, 2025

Baricitinib Treatment in RNU7-1-Associated Aicardi-Goutières Syndrome in a South African Child: A Case Report.

Baricitinib Treatment in RNU7-1-Associated Aicardi-Goutières Syndrome in a South African Child: A Case Report.

Journal: American journal of medical genetics. Part A

Published: September 23, 2024

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.

Journal: The Lancet. Neurology

Published: September 04, 2024

Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.

Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.

Journal: The Journal of clinical investigation

Published: April 02, 2024

Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139).

Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139).

Journal: Stem cell research

Published: March 18, 2024

Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation.

Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation.

Journal: Journal of clinical immunology

Published: March 05, 2024

NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review.

NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review.

Journal: International journal of molecular sciences

Published: January 23, 2024

Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.

Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.

Journal: The Journal of experimental medicine

Published: November 10, 2023

Showing 1-12 of 34

Last Updated: 09/26/2026