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The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies.
Manry J, Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt CE, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier JC, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Mégarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya JM, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs CM, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Ozcelik T, Keles S, Bousfiha AA, El Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY, Shcherbina A, Lau YL, Le… See abstract for full author list ➔ Manry J, et al. Proc Natl Acad Sci U S A. 2022 May 24;119(21):e2200413119. doi: 10.1073/pnas.2200413119. Epub 2022 May 16. Proc Natl Acad Sci U S A. 2022. PMID: 35576468 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
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.
Extended immunophenotyping reference values in a healthy pediatric population.
Garcia-Prat M, Álvarez-Sierra D, Aguiló-Cucurull A, Salgado-Perandrés S, Briongos-Sebastian S, Franco-Jarava C, Martin-Nalda A, Colobran R, Montserrat I, Hernández-González M, Pujol-Borrell R, Soler-Palacin P, Martínez-Gallo M. Garcia-Prat M, et al. Cytometry B Clin Cytom. 2019 May;96(3):223-233. doi: 10.1002/cyto.b.21728. Epub 2018 Oct 17. Cytometry B Clin Cytom. 2019. PMID: 30334372 Free article.
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.
First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain).
Argudo-Ramírez A, Martín-Nalda A, Marín-Soria JL, López-Galera RM, Pajares-García S, González de Aledo-Castillo JM, Martínez-Gallo M, García-Prat M, Colobran R, Riviere JG, Quintero Y, Collado T, García-Villoria J, Ribes A, Soler-Palacín P. Argudo-Ramírez A, et al. Front Immunol. 2019 Oct 22;10:2406. doi: 10.3389/fimmu.2019.02406. eCollection 2019. Front Immunol. 2019. PMID: 31695692 Free PMC article.
The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.
Arcas-García A, Garcia-Prat M, Magallón-Lorenz M, Martín-Nalda A, Drechsel O, Ossowski S, Alonso L, Rivière JG, Soler-Palacín P, Colobran R, Sayós J, Martínez-Gallo M, Franco-Jarava C. Arcas-García A, et al. Clin Exp Immunol. 2020 Apr;200(1):61-72. doi: 10.1111/cei.13405. Epub 2020 Jan 19. Clin Exp Immunol. 2020. PMID: 31799703 Free PMC article.
249 results