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Page 1
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.
Bohlen J, Bagarić I, Vatovec T, Ogishi M, Ahmed SF, Cederholm A, Buetow L, Sobrino S, Le Floc'h C, Arango-Franco CA, Seabra L, Michelet M, Barzaghi F, Leardini D, Saettini F, Vendemini F, Baccelli F, Catala A, Gambineri E, Veltroni M, Aguilar de la Red Y, Rice GI, Consonni F, Berteloot L, Largeaud L, Conti F, Roullion C, Masson C, Bessot B, Seeleuthner Y, Le Voyer T, Rinchai D, Rosain J, Neehus AL, Erazo-Borrás L, Li H, Janda Z, Cho EJ, Muratore E, Soudée C, Lainé C, Delabesse E, Goulvestre C, Ma CS, Puel A, Tangye SG, André I, Bole-Feysot C, Abel L, Erlacher M, Zhang SY, Béziat V, Lagresle-Peyrou C, Six E, Pasquet M, Alsina L, Aiuti A, Zhang P, Crow YJ, Landegren N, Masetti R, Huang DT, Casanova JL, Bustamante J. Bohlen J, et al. Among authors: rice gi. J Clin Invest. 2024 Oct 15;134(20):e181604. doi: 10.1172/JCI181604. J Clin Invest. 2024. PMID: 39403923 Free PMC article.
MDA5 gain-of-function associated with a Glu794del mutation.
Wong C, Gerasimavicius L, Crow YJ, Uggenti C; E794del consortium. Wong C, et al. J Clin Immunol. 2024 Oct 2;45(1):20. doi: 10.1007/s10875-024-01813-7. J Clin Immunol. 2024. PMID: 39356338 Free PMC article. No abstract available.
Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation.
Triaille C, Rao NM, Rice GI, Seabra L, Sutherland FJH, Bondet V, Duffy D, Gennery AR, Fournier B, Bader-Meunier B, Troedson C, Cleary G, Buso H, Dalby-Payne J, Ranade P, Jansen K, De Somer L, Frémond ML, Chavan PP, Wong M, Dale RC, Wouters C, Quartier P, Khubchandani R, Crow YJ. Triaille C, et al. Among authors: rice gi. J Clin Immunol. 2024 Aug 28;44(8):185. doi: 10.1007/s10875-024-01788-5. J Clin Immunol. 2024. PMID: 39196411 Free PMC article.
Inheritance of STING mosaicism in two half-siblings.
de Becdelièvre A, Eveillard LA, Wolska-Kuśnierz B, Frémond ML; SAVI study group. de Becdelièvre A, et al. J Clin Immunol. 2024 Jul 30;44(7):168. doi: 10.1007/s10875-024-01768-9. J Clin Immunol. 2024. PMID: 39078464 Free PMC article. No abstract available.
958 results