Publications and ressources

Mortality and functional outcome after pediatric intracerebral hemorrhage: cohort study and meta-analysis.

Nicolas Garcelon, Nathalie Boddaert, Thomas Blauwblomme

Source : J Neurosurg Pediatr

2021 Apr 9

Pmid : 33836498

Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine.

Paul Bastard, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Yoann Seeleuthner, Lucy Bizien, Maya Chrabieh, Vivien Beziat, Aurélie Cobat, Anne Puel, Shen-Ying Zhang, Laurent Abel , Qian Zhang, Emmanuelle Jouanguy, Jean-Laurent CASANOVA

Source : J Exp Med

2021 Apr 5

Pmid : 33544838

STING-Mediated Lung Inflammation and Beyond.

Marie-Louise Frémond

Source : J Clin Immunol

2021 Apr 1

Pmid : 33532887

Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies.

Isabelle Melki, Luís Seabra, Alice Lepelley, Brigitte Bader-Meunier, Thomas Blauwblomme, Romain Levy, Pierre Quartier, Bénédicte Neven, Marie-Louise Frémond

Source : J Clin Immunol

2021 Apr 1

Pmid : 33411153

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.

Lydie Burglen

Source : Ann Neurol

2021 Apr 1

Pmid : 33443317

Integrative genetic and immune cell analysis of plasma proteins in healthy donors identifies novel associations involving primary immune deficiency genes

Source : medRxiv

2021 Mar 26

Pmid :

Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.

Karine Siquier , Agnès Rötig, Stanislas Lyonnet, Giulia Barcia, Vincent Cantagrel, Olivier Hermine

Source : Blood

2021 Mar 24

Pmid : 33763700

CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients

Source : medRxiv

2021 Mar 19

Pmid :

Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.

Frances Tilley

Source : Sci Rep

2021 Mar 8

Pmid : 33686175

Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.

Source : Sci Rep

2021 Mar 8

Pmid : 33686175

Oncogenetic landscape of lymphomagenesis in coeliac disease.

Sascha CORDING, Georgia MALAMUT, Sofia BERRABAH, Nicolas GUEGAN, Bertrand MERESSE, Michael Dussiot, Olivier Hermine, Nadine CERF-BENSUSSAN

Source : Gut

2021 Feb 12

Pmid : 33579790

Oncogenetic landscape of lymphomagenesis in coeliac disease.

Sascha CORDING, Georgia MALAMUT, Sofia BERRABAH, Nicolas GUEGAN, Bertrand MERESSE, Michael Dussiot, Olivier Hermine, Nadine CERF-BENSUSSAN

Source : Gut

2021 Feb 12

Pmid : 33579790

Oncogenetic landscape of lymphomagenesis in coeliac disease.

Sascha CORDING, Georgia MALAMUT, Sofia BERRABAH, Nicolas GUEGAN, Bertrand MERESSE, Michael Dussiot, Olivier Hermine, Nadine CERF-BENSUSSAN

Source : Gut

2021 Feb 12

Pmid : 33579790

Oncogenetic landscape of lymphomagenesis in coeliac disease.

Sascha CORDING, Georgia MALAMUT, Sofia BERRABAH, Nicolas GUEGAN, Bertrand MERESSE, Michael Dussiot, Olivier Hermine, Nadine CERF-BENSUSSAN

Source : Gut

2021 Feb 12

Pmid : 33579790

Oncogenetic landscape of lymphomagenesis in coeliac disease.

Sascha CORDING, Georgia MALAMUT, Sofia BERRABAH, Nicolas GUEGAN, Bertrand MERESSE, Michael Dussiot, Olivier Hermine, Nadine CERF-BENSUSSAN

Source : Gut

2021 Feb 12

Pmid : 33579790