Publications and ressources

Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling.

Alice Lepelley, Bénédicte Neven, Luís Seabra, Marie-Louise Frémond, Yanick Crow

Source : J. Exp. Med.

2020 Nov 2

Pmid : 32725128

Impaired type I interferon activity and inflammatory responses in severe COVID-19 patients.

Jérome Hadjadj, Laura BARNABEI, Alain Fischer, Frédéric Rieux-Laucat

Source : Science

2020 Jul 13

Pmid : 32661059

Impaired type I interferon activity and inflammatory responses in severe COVID-19 patients.

Jérome Hadjadj, Laura BARNABEI, Alain Fischer, Frédéric Rieux-Laucat

Source : Science

2020 Jul 13

Pmid : 32661059

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.

Olivier Gribouval, Christelle Arrondel, Géraldine Mollet, Guillaume Dorval, Corinne Antignac

Source : Proc. Natl. Acad. Sci. U.S.A.

2020 Jun 30

Pmid : 32554502

DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma and autoimmunity.

Sylvain Latour

Source : J. Allergy Clin. Immunol.

2020 Jun 17

Pmid : 32562707

Targeted deep sequencing reveals clonal and subclonal mutational signatures in Adult T-cell leukemia/lymphoma and defines an unfavorable indolent subtype.

Felipe Suarez, Olivier Hermine

Source : Leukemia

2020 Jun 17

Pmid : 32555298

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Michel Polak, Nathalie Boddaert, Nadia Bahi-Buisson, Jean-Michel Rozet

Source : Am. J. Hum. Genet.

2020 Jun 4

Pmid : 32470375

Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes.

Laurent Abel , Jean-Laurent CASANOVA , Antonio Rausell

Source : Proc. Natl. Acad. Sci. U.S.A.

2020 Jun 3

Pmid : 32487729

From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years.

Loïc CHENTOUT, Bertrand Boisson, Aurore POULIET, Anne DURANDY, Jean-Laurent CASANOVA , Sven KRACKER

Source : J. Pediatr.

2020 May 15

Pmid : 32423680

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

Sophie Thomas

Source : Am. J. Hum. Genet.

2020 May 15

Pmid : 32413283

Inherited human IFN-γ deficiency underlies mycobacterial disease.

Jacinta Bustamante

Source : J. Clin. Invest.

2020 May 11

Pmid : 32163377

Fgfr3 Is a Positive Regulator of Osteoblast Expansion and Differentiation During Zebrafish Skull Vault Development.

Emilie Dambroise, Ghaith ABDESSALEM, Marine LUKA, Laurence Legeai-Mallet , Mickaël Ménager

Source : J. Bone Miner. Res.

2020 May 7

Pmid : 32379366

Neural basis of interindividual variability in social perception in typically developing children and adolescents using diffusion tensor imaging.

Ana Saitovitch, Nathalie Boddaert, Monica Zilbovicius

Source : Sci Rep

2020 Apr 20

Pmid : 32286406

Clonal tracking in gene therapy patients reveals a diversity of human hematopoietic differentiation programs

Emmanuelle SIX, Adeline DENIS, Marianne DELVILLE, Steicy SOBRINO, Isabelle André, Marina Cavazzana

Source : Blood

2020 Apr 15

Pmid : 32040546

Kinesin-1 regulates antigen cross-presentation through the scission of tubulations from early endosomes in dendritic cells.

Meriem Belabed, Mathieu Kurowska, Alain Fischer, Geneviève de Saint Basile, Fernando Sepulveda , Gaël Ménasché

Source : Nat Commun

2020 Apr 14

Pmid : 32286311