Maladies génétiques d’expression pédiatrique

• Article dans une revue

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall, Sertraline Treatment Can Mimic Niemann-Pick Type C Biomarker Profile: A Diagnostic Pitfall.

Maria Makrygianni, Cecile Pagan, Antony Citterio-Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse-Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar

ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the…

Annals of Clinical and Translational Neurology, 2026, ⟨10.1002/acn3.70411⟩. ⟨inserm-05632899⟩

• Article dans une revue

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

Clémence David, Tifenn Wauquier, Alix de Becdelièvre, Camille Louvrier, Maud Tusseau, Cécile Masson, Luis Seabra, Caroline Kannengiesser, Hayssam Al Arab, Ibrahima Ba, Mary Brennan, Alexandre Belot, Nadia Nathan, Hélène Maillard, Héloïse Reumaux, Jérémie Sellam, Jacques Cadranel, Yves Hatchuel, Laurence Weiss, Sébastien de Almeida, Cinthia Rames, Marie Wislez, Clémentine Vigier, Géraldine Labouret, Claire Kastner, François Provot, Julien Tarabeux, Elise Schaefer, Darragh Duffy, Vincent Bondet, Paul Bastard, Anne Puel, Jean-Laurent Casanova, Gillian Rice, Brigitte Bader-Meunier, Yanick Crow, Alice Lepelley, Marie-Louise Frémond

COPA syndrome is a rare monogenic autoinflammatory disease due to heterozygous mutations in COPA, encoding the coatomer subunit α. COPA syndrome demonstrates phenotypic overlap with STING-associated vasculopathy with onset in infancy (SAVI), the latter due to gain-of-function mutations in STING1.…

Journal of Experimental Medicine, 2026, 223 (4), pp.e20251470. ⟨10.1084/jem.20251470⟩. ⟨pasteur-05608550⟩

• Article dans une revue

A subset of hepatic fibroblasts marked by Gli1 expression generates portal fibrosis and promotes ductular reaction

Mariana Amaral Raposo, Haquima El Mourabit, Wenrui Gao, Mirko Minini, Romain Morichon, Laura Fouassier, Dominique Wendum, Mário José Abdalla Saad, Andrey Dos Santos, Jérémie Gautheron, Nicolas Chignard, Chantal Housset, Axelle Cadoret, Sara Lemoinne

JHEP Reports Innovation in Hepatology, 2026, pp.101819. ⟨10.1016/j.jhepr.2026.101819⟩. ⟨hal-05602251⟩

• Article dans une revue

Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association

Laura Keehan, Hitomi Ono-Minagi, Mohamad Hadhud, Jonathan Rips, Daniel Hinds, Anthony Fischer, Jennifer Bartlett, Paul Mccray, Nada Qawasmi, Nadia Nathan, Camille Louvrier, Tifenn Desroziers, Markus Damme, Matthias Griese, Daniel Wegner, F Sessions Cole, Jennifer Wambach, Matthew Wheeler, Peter Burbelo, Devon Bonner, Jonathan Bernstein, John Chiorini, Oded Breuer, Carlos Milla

Purpose: Genetic causes of surfactant dysfunction are associated with childhood interstitial lung disease. Lysosome-associated membrane glycoprotein 3 (LAMP3) is highly expressed within lamellar bodies of alveolar epithelial type II cells, and variants in LAMP3 have recently been suggested as a…

Genetics in Medicine, 2026, 28 (4), pp.102531. ⟨10.1016/j.gim.2026.102531⟩. ⟨inserm-05632724⟩