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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. 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
PLCG2 Mutation in a Patient Presenting with Type 2 Autoimmune Hepatitis.
Gardin A, Gaigne L, Magérus A, Rieux-Laucat F, Jacquemin E. Gardin A, et al. Among authors: rieux laucat f. J Clin Transl Hepatol. 2024 Jul 28;12(7):685-687. doi: 10.14218/JCTH.2024.00124. Epub 2024 May 28. J Clin Transl Hepatol. 2024. PMID: 38993509 Free PMC article.
Association of paediatric autoimmune cytopenia and inflammatory bowel disease suggests a common genetic origin.
Gilton M, Fernandes H, Martinez C, Leverger G, Abou Chahla W, Li Thiao Te V, Deparis M, Armari Alla C, Garnier N, Benadiba J, Marie-Cardine A, Rieux-Laucat F, Picard C, Aladjidi N, Leblanc T. Gilton M, et al. Among authors: rieux laucat f. Br J Haematol. 2024 Oct;205(4):1508-1515. doi: 10.1111/bjh.19701. Epub 2024 Aug 18. Br J Haematol. 2024. PMID: 39155467
[A20 haploinsufficiency: what do clinicians need to know?].
Elhani I, Aouba A, Riller Q, Vergneault H, Boursier G, Rieux-Laucat F, Hentgen V, Georgin-Lavialle S. Elhani I, et al. Rev Med Interne. 2024 Jul;45(7):415-422. doi: 10.1016/j.revmed.2023.12.004. Epub 2023 Dec 29. Rev Med Interne. 2024. PMID: 38160098 Review. French.
2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.
Brakta C, Tabet AC, Puel M, Pacault M, Stolzenberg MC, Goudet C, Merger M, Reumaux H, Lambert N, Alioua N, Malan V, Hanein S, Dupin-Deguine D, Treiner E, Lefèvre G, Farhat MM, Luca LE, Hureaux M, Li H, Chelloug N, Dehak R, Boussion S, Ouachée-Chardin M, Schleinitz N, Abou Chahla W, Barlogis V, Vély F, Oksenhendler E, Quartier P, Pasquet M, Suarez F, Bustamante J, Neven B, Picard C, Rieux-Laucat F, Lévy J, Rosain J. Brakta C, et al. Among authors: rieux laucat f. J Clin Immunol. 2024 Nov 23;45(1):46. doi: 10.1007/s10875-024-01831-5. J Clin Immunol. 2024. PMID: 39578275
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).
Bellos E, Santillo D, Vantourout P, Jackson HR, Duret A, Hearn H, Seeleuthner Y, Talouarn E, Hodeib S, Patel H, Powell O, Yeoh S, Mustafa S, Habgood-Coote D, Nichols S, Estramiana Elorrieta L, D'Souza G, Wright VJ, Estrada-Rivadeneyra D, Tremoulet AH, Dummer KB, Netea SA, Condino-Neto A, Lau YL, Núñez Cuadros E, Toubiana J, Holanda Pena M, Rieux-Laucat F, Luyt CE, Haerynck F, Mège JL, Chakravorty S, Haddad E, Morin MP, Metin Akcan Ö, Keles S, Emiroglu M, Alkan G, Tüter Öz SK, Elmas Bozdemir S, Morelle G, Volokha A, Kendir-Demirkol Y, Sözeri B, Coskuner T, Yahsi A, Gulhan B, Kanik-Yuksek S, Bayhan GI, Ozkaya-Parlakay A, Yesilbas O, Hatipoglu N, Ozcelik T, Belot A, Chopin E, Barlogis V, Sevketoglu E, Menentoglu E, Gayretli Aydin ZG, Bloomfield M, AlKhater SA, Cyrus C, Stepanovskiy Y, Bondarenko A, Öz FN, Polat M, Fremuth J, Lebl J, Geraldo A, Jouanguy E; COVID-19 Human Genetic Effort; DIAMONDS; EUCLIDS; Carter MJ, Wellman P, Peters M, Pérez de Diego R, Edwards LA, Chiu C, Noursadeghi M, Bolze A, Shimizu C, Kaforou M, Hamilton MS, Herberg JA, Schmitt EG, Rodriguez-Palmero A, Pujol A, Kim J, Cobat A, Abel L, Zhang SY, Casanova JL, Kuijpers TW, Burns JC, Levin M, Hayday AC, Sanc… See abstract for full author list ➔ Bellos E, et al. Among authors: rieux laucat f. J Exp Med. 2024 Dec 2;221(12):e920240699. doi: 10.1084/jem.20240699. Epub 2024 Nov 22. J Exp Med. 2024. PMID: 39576310
ACK1 and BRK non-receptor tyrosine kinase deficiencies are associated with familial systemic lupus and involved in efferocytosis.
Guillet S, Lazarov T, Jordan N, Boisson B, Tello M, Craddock B, Zhou T, Nishi C, Bareja R, Yang H, Rieux-Laucat F, Fregel Lorenzo RI, Dyall SD, Isenberg D, D'Cruz D, Lachmann N, Elemento O, Viale A, Socci ND, Abel L, Nagata S, Huse M, Miller WT, Casanova JL, Geissmann F. Guillet S, et al. Among authors: rieux laucat f. Elife. 2024 Nov 21;13:RP96085. doi: 10.7554/eLife.96085. Elife. 2024. PMID: 39570652 Free PMC article.
217 results