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Page 1
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children.
Bastard P, Gervais A, Taniguchi M, Saare L, Särekannu K, Le Voyer T, Philippot Q, Rosain J, Bizien L, Asano T, Garcia-Prat M, Parra-Martínez A, Migaud M, Tsumura M, Conti F, Belot A, Rivière JG, Morio T, Tanaka J, Javouhey E, Haerynck F, Duvlis S, Ozcelik T, Keles S, Tandjaoui-Lambiotte Y, Escoda S, Husain M, Pan-Hammarström Q, Hammarström L, Ahlijah G, Abi Haidar A, Soudee C, Arseguel V, Abolhassani H, Sahanic S, Tancevski I, Nukui Y, Hayakawa S, Chrousos GP, Michos A, Tatsi EB, Filippatos F, Rodriguez-Palmero A, Troya J, Tipu I, Meyts I, Roussel L, Ostrowski SR, Schidlowski L, Prando C, Condino-Neto A, Cheikh N, Bousfiha AA, El Bakkouri J; COVID Clinicians; GEN-COVID Study Group; COVID Human Genetic Effort; Peterson P, Pujol A, Lévy R, Quartier P, Vinh DC, Boisson B, Béziat V, Zhang SY, Borghesi A, Pession A, Andreakos E, Marr N, Mentis AA, Mogensen TH, Rodríguez-Gallego C, Soler-Palacin P, Colobran R, Tillmann V, Neven B, Trouillet-Assant S, Brodin P, Abel L, Jouanguy E, Zhang Q, Martinón-Torres F, Salas A, Gómez-Carballa A, Gonzalez-Granado LI, Kisand K, Okada S, Puel A, Cobat A, Casanova JL. Bastard P, et al. J Exp Med. 2024 Feb 5;221(2):e20231353. doi: 10.1084/jem.20231353. Epub 2024 Jan 4. J Exp Med. 2024. PMID: 38175961 Free PMC article.
Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.
Franco-Jarava C, Álvarez de la Campa E, Solanich X, Morandeira-Rego F, Mas-Bosch V, García-Prat M, de la Cruz X, Martín-Nalda A, Soler-Palacín P, Hernández-González M, Colobran R. Franco-Jarava C, et al. J Clin Immunol. 2017 Nov;37(8):781-789. doi: 10.1007/s10875-017-0447-x. Epub 2017 Sep 23. J Clin Immunol. 2017. PMID: 28942469
TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.
Franco-Jarava C, Wang H, Martin-Nalda A, Alvarez SD, García-Prat M, Bodet D, García-Patos V, Plaja A, Rudilla F, Rodriguez-Sureda V, García-Latorre L, Aksentijevich I, Colobran R, Soler-Palacín P. Franco-Jarava C, et al. Clin Immunol. 2018 Jun;191:44-51. doi: 10.1016/j.clim.2018.03.009. Epub 2018 Mar 20. Clin Immunol. 2018. PMID: 29572183
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.
Maccari ME, Abolhassani H, Aghamohammadi A, Aiuti A, Aleinikova O, Bangs C, Baris S, Barzaghi F, Baxendale H, Buckland M, Burns SO, Cancrini C, Cant A, Cathébras P, Cavazzana M, Chandra A, Conti F, Coulter T, Devlin LA, Edgar JDM, Faust S, Fischer A, Garcia-Prat M, Hammarström L, Heeg M, Jolles S, Karakoc-Aydiner E, Kindle G, Kiykim A, Kumararatne D, Grimbacher B, Longhurst H, Mahlaoui N, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neven B, Nieters A, Olbrich P, Ozen A, Pachlopnik Schmid J, Picard C, Prader S, Rae W, Reichenbach J, Rusch S, Savic S, Scarselli A, Scheible R, Sediva A, Sharapova SO, Shcherbina A, Slatter M, Soler-Palacin P, Stanislas A, Suarez F, Tucci F, Uhlmann A, van Montfrans J, Warnatz K, Williams AP, Wood P, Kracker S, Condliffe AM, Ehl S. Maccari ME, et al. Front Immunol. 2018 Mar 16;9:543. doi: 10.3389/fimmu.2018.00543. eCollection 2018. Front Immunol. 2018. PMID: 29599784 Free PMC article.
Age-specific pediatric reference ranges for immunoglobulins and complement proteins on the Optilite™ automated turbidimetric analyzer.
Garcia-Prat M, Vila-Pijoan G, Martos Gutierrez S, Gala Yerga G, García Guantes E, Martínez-Gallo M, Martín-Nalda A, Soler-Palacín P, Hernández-González M. Garcia-Prat M, et al. J Clin Lab Anal. 2018 Jul;32(6):e22420. doi: 10.1002/jcla.22420. Epub 2018 Mar 30. J Clin Lab Anal. 2018. PMID: 29603375 Free PMC article.
Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations.
Tometten I, Felgentreff K, Hönig M, Hauck F, Albert MH, Niehues T, Perez R, Ghosh S, Picard C, Stary J, Formankova R, Worth A, Soler-Palacín P, García-Prat M, Allende LM, Gonzalez-Granado LI, Stepensky P, Di Cesare S, Scarselli A, Cancrini C, Speckmann C, Gilmour K, Notarangelo L, Ehl S, Rohr JC. Tometten I, et al. Clin Immunol. 2019 Apr;201:30-34. doi: 10.1016/j.clim.2018.11.006. Epub 2019 Feb 15. Clin Immunol. 2019. PMID: 30776520
Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).
Martin-Nalda A, Cueto-González AM, Argudo-Ramírez A, Marin-Soria JL, Martinez-Gallo M, Colobran R, Plaja A, Castells N, Riviere J, Tizzano EF, Soler-Palacin P. Martin-Nalda A, et al. Mol Genet Genomic Med. 2019 Dec;7(12):e1016. doi: 10.1002/mgg3.1016. Epub 2019 Oct 30. Mol Genet Genomic Med. 2019. PMID: 31663686 Free PMC article.
266 results