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Page 1
A20 Haploinsufficiency: A Systematic Review of 177 Cases.
Elhani I, Riller Q, Boursier G, Hentgen V, Rieux-Laucat F, Georgin-Lavialle S. Elhani I, et al. Among authors: riller q. J Invest Dermatol. 2024 Jun;144(6):1282-1294.e8. doi: 10.1016/j.jid.2023.12.007. Epub 2023 Dec 19. J Invest Dermatol. 2024. PMID: 38128752
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
Boussard C, Delage L, Gajardo T, Kauskot A, Batignes M, Goudin N, Stolzenberg MC, Brunaud C, Panikulam P, Riller Q, Moya-Nilges M, Solarz J, Repérant C, Durel B, Bordet JC, Pellé O, Lebreton C, Magérus A, Pirabakaran V, Vargas P, Dupichaud S, Jeanpierre M, Vinit A, Zarhrate M, Masson C, Aladjidi N, Arkwright PD, Bader-Meunier B, Baron Joly S, Benadiba J, Bernard E, Berrebi D, Bodemer C, Castelle M, Charbit-Henrion F, Chbihi M, Debray A, Drabent P, Fraitag S, Hié M, Landman-Parker J, Lhermitte L, Moshous D, Rohrlich P, Ruemmele F, Welfringer-Morin A, Tusseau M, Belot A, Cerf-Bensussan N, Roelens M, Picard C, Neven B, Fischer A, Callebaut I, Ménager M, Sepulveda FE, Adam F, Rieux-Laucat F. Boussard C, et al. Among authors: riller q. Blood. 2023 Jun 1;141(22):2713-2726. doi: 10.1182/blood.2022018486. Blood. 2023. PMID: 36952639 Free article.
Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response.
de Cevins C, Delage L, Batignes M, Riller Q, Luka M, Remaury A, Sorin B, Fali T, Masson C, Hoareau B, Meunier C, Parisot M, Zarhrate M, Pérot BP, García-Paredes V, Carbone F, Galliot L, Nal B, Pierre P, Canard L, Boussard C, Crickx E, Guillemot JC, Bader-Meunier B, Bélot A, Quartier P, Frémond ML, Neven B, Boldina G, Augé F, Alain F, Didier M, Rieux-Laucat F, Ménager MM. de Cevins C, et al. Among authors: riller q. Cell Rep Med. 2023 Dec 19;4(12):101333. doi: 10.1016/j.xcrm.2023.101333. Cell Rep Med. 2023. PMID: 38118407 Free PMC article.
Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.
Jeanpierre M, Cognard J, Tusseau M, Riller Q, Bui LC, Berthelet J, Laurent A, Crickx E, Parlato M, Stolzenberg MC, Suarez F, Leverger G, Aladjidi N, Collardeau-Frachon S, Pietrement C, Malphettes M, Froissart A, Bole-Feysot C, Cagnard N, Rodrigues Lima F, Walzer T, Rieux-Laucat F, Belot A, Mathieu AL. Jeanpierre M, et al. Among authors: riller q. J Exp Med. 2024 Sep 2;221(9):e20232337. doi: 10.1084/jem.20232337. Epub 2024 Jul 19. J Exp Med. 2024. PMID: 39028869 Free PMC article.
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.
Le Voyer T, Parent AV, Liu X, Cederholm A, Gervais A, Rosain J, Nguyen T, Perez Lorenzo M, Rackaityte E, Rinchai D, Zhang P, Bizien L, Hancioglu G, Ghillani-Dalbin P, Charuel JL, Philippot Q, Gueye MS, Maglorius Renkilaraj MRL, Ogishi M, Soudée C, Migaud M, Rozenberg F, Momenilandi M, Riller Q, Imberti L, Delmonte OM, Müller G, Keller B, Orrego J, Franco Gallego WA, Rubin T, Emiroglu M, Parvaneh N, Eriksson D, Aranda-Guillen M, Berrios DI, Vong L, Katelaris CH, Mustillo P, Raedler J, Bohlen J, Bengi Celik J, Astudillo C, Winter S; NF-κB Consortium; COVID Human Genetic Effort; McLean C, Guffroy A, DeRisi JL, Yu D, Miller C, Feng Y, Guichard A, Béziat V, Bustamante J, Pan-Hammarström Q, Zhang Y, Rosen LB, Holland SM, Bosticardo M, Kenney H, Castagnoli R, Slade CA, Boztuğ K, Mahlaoui N, Latour S, Abraham RS, Lougaris V, Hauck F, Sediva A, Atschekzei F, Sogkas G, Poli MC, Slatter MA, Palterer B, Keller MD, Pinzon-Charry A, Sullivan A, Droney L, Suan D, Wong M, Kane A, Hu H, Ma C, Grombiříková H, Ciznar P, Dalal I, Aladjidi N, Hie M, Lazaro E, Franco J, Keles S, Malphettes M, Pasquet M, Maccari ME, Meinhardt A, Ikinciogullari A, Shahrooei M, Celmeli F, Frosk P, Goodnow CC, Gray … See abstract for full author list ➔ Le Voyer T, et al. Among authors: riller q. Nature. 2023 Nov;623(7988):803-813. doi: 10.1038/s41586-023-06717-x. Epub 2023 Nov 8. Nature. 2023. PMID: 37938781 Free PMC article.
NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.
Delage L, Carbone F, Riller Q, Zachayus JL, Kerbellec E, Buzy A, Stolzenberg MC, Luka M, de Cevins C, Kalouche G, Favier R, Michel A, Meynier S, Corneau A, Evrard C, Neveux N, Roudières S, Pérot BP, Fusaro M, Lenoir C, Pellé O, Parisot M, Bras M, Héritier S, Leverger G, Korganow AS, Picard C, Latour S, Collet B, Fischer A, Neven B, Magérus A, Ménager M, Pasquier B, Rieux-Laucat F. Delage L, et al. Among authors: riller q. Nat Commun. 2023 Jun 22;14(1):3728. doi: 10.1038/s41467-023-39295-7. Nat Commun. 2023. PMID: 37349339 Free PMC article.
[Splenic lymphoma, diagnosis and treatment].
Riller Q, Cohen-Aubart F, Roos-Weil D. Riller Q, et al. Rev Med Interne. 2022 Oct;43(10):608-616. doi: 10.1016/j.revmed.2022.05.009. Epub 2022 Jun 9. Rev Med Interne. 2022. PMID: 35691756 Review. French.
Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation.
Riller Q, Sorin B, Courteille C, Ho-Nhat D, Voyer TL, Debray JC, Stolzenberg MC, Pellé O, Becquard T, Riestra MR, Berteloot L, Migaud M, Delage L, Jeanpierre M, Boussard C, Brunaud C, Magérus A, Michel V, Roux C, Picard C, Masson C, Bole-Feysot C, Cagnard N, Corneau A, Meyts I, Baud V, Casanova JL, Fischer A, Dejardin E, Puel A, Boulanger C, Neven B, Rieux-Laucat F. Riller Q, et al. medRxiv [Preprint]. 2024 May 17:2024.05.17.24307356. doi: 10.1101/2024.05.17.24307356. medRxiv. 2024. Update in: J Exp Med. 2025 Feb 3;222(2):e20240843. doi: 10.1084/jem.20240843. PMID: 38798321 Free PMC article. Updated. Preprint.
Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.
Pellé O, Moreno S, Lorenz MR, Riller Q, Fuehrer M, Stolzenberg MC, Maccari ME, Lenoir C, Cheminant M, Hinze T, Hebart HF, König C, Schvartz A, Schmitt Y, Vinit A, Henry E, Touzart A, Villarese P, Isnard P, Neveux N, Landman-Parker J, Picard C, Fouyssac F, Neven B, Grimbacher B, Speckmann C, Fischer A, Latour S, Schwarz K, Ehl S, Rieux-Laucat F, Rensing-Ehl A, Magérus A. Pellé O, et al. Among authors: riller q. J Allergy Clin Immunol. 2024 Jan;153(1):203-215. doi: 10.1016/j.jaci.2023.09.028. Epub 2023 Oct 2. J Allergy Clin Immunol. 2024. PMID: 37793571
29 results