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Page 1
Inherited Human BCL10 Deficiencies.
Alsaidalani AA, García-Solís B, Bukhari E, Van Den Rym A, López-Collazo E, Sánchez-Ramón S, Corvillo F, López-Lera A, de Andrés A, Martínez-Barricarte R, Perez de Diego R. Alsaidalani AA, et al. Among authors: van den rym a. J Clin Immunol. 2023 Dec 22;44(1):13. doi: 10.1007/s10875-023-01619-z. J Clin Immunol. 2023. PMID: 38129623 Review.
Double-strand break repair through homologous recombination in autosomal-recessive BCL10 deficiency.
García-Gómez S, Chaparro R, Safa A, Van Den Rym A, Martinez-Barricarte R, Lorenzo L, Sánchez-Ramón S, Toledano V, Cubillos-Zapata C, López-Collazo E, Martín-Arranz MD, Martín-Arranz E, Vela M, Gonzalez-Navarro P, Pérez-Martínez A, Casanova JL, Recio MJ, Pérez de Diego R. García-Gómez S, et al. Among authors: van den rym a. J Allergy Clin Immunol. 2019 May;143(5):1931-1934.e1. doi: 10.1016/j.jaci.2018.12.1000. Epub 2019 Jan 18. J Allergy Clin Immunol. 2019. PMID: 30660642 No abstract available.
Human BCL10 Deficiency due to Homozygosity for a Rare Allele.
Van Den Rym A, Taur P, Martinez-Barricarte R, Lorenzo L, Puel A, Gonzalez-Navarro P, Pandrowala A, Gowri V, Safa A, Toledano V, Cubillos-Zapata C, López-Collazo E, Vela M, Pérez-Martínez A, Sánchez-Ramón S, Recio MJ, Casanova JL, Desai MM, Perez de Diego R. Van Den Rym A, et al. J Clin Immunol. 2020 Feb;40(2):388-398. doi: 10.1007/s10875-020-00760-3. Epub 2020 Feb 1. J Clin Immunol. 2020. PMID: 32008135
Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic features.
García-García A, Buendia Arellano M, Deyà-Martínez À, Lozano Blasco J, Serrano M, Van Den Rym A, García-Solis B, Esteve-Solé A, Yiyi L, Vlagea A, Solanich X, Fisher MR, Lyons JJ, de Diego RP, Alsina L. García-García A, et al. Among authors: van den rym a. Pediatr Allergy Immunol. 2021 Apr;32(3):566-575. doi: 10.1111/pai.13398. Epub 2020 Nov 6. Pediatr Allergy Immunol. 2021. PMID: 33098103
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths.
Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Manry J, 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, Megarbane 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 C, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Coulibaly B, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Nussbaum RL, 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,… See abstract for full author list ➔ Bastard P, et al. Sci Immunol. 2021 Aug 19;6(62):eabl4340. doi: 10.1126/sciimmunol.abl4340. Sci Immunol. 2021. PMID: 34413139 Free PMC article.
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.
Asano T, Boisson B, Onodi F, Matuozzo D, Moncada-Velez M, Maglorius Renkilaraj MRL, Zhang P, Meertens L, Bolze A, Materna M, Korniotis S, Gervais A, Talouarn E, Bigio B, Seeleuthner Y, Bilguvar K, Zhang Y, Neehus AL, Ogishi M, Pelham SJ, Le Voyer T, Rosain J, Philippot Q, Soler-Palacín P, Colobran R, Martin-Nalda A, Rivière JG, Tandjaoui-Lambiotte Y, Chaïbi K, Shahrooei M, Darazam IA, Olyaei NA, Mansouri D, Hatipoğlu N, Palabiyik F, Ozcelik T, Novelli G, Novelli A, Casari G, Aiuti A, Carrera P, Bondesan S, Barzaghi F, Rovere-Querini P, Tresoldi C, Franco JL, Rojas J, Reyes LF, Bustos IG, Arias AA, Morelle G, Christèle K, Troya J, Planas-Serra L, Schlüter A, Gut M, Pujol A, Allende LM, Rodriguez-Gallego C, Flores C, Cabrera-Marante O, Pleguezuelo DE, de Diego RP, Keles S, Aytekin G, Akcan OM, Bryceson YT, Bergman P, Brodin P, Smole D, Smith CIE, Norlin AC, Campbell TM, Covill LE, Hammarström L, Pan-Hammarström Q, Abolhassani H, Mane S, Marr N, Ata M, Al Ali F, Khan T, Spaan AN, Dalgard CL, Bonfanti P, Biondi A, Tubiana S, Burdet C, Nussbaum R, Kahn-Kirby A, Snow AL; COVID Human Genetic Effort; COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort Study … See abstract for full author list ➔ Asano T, et al. Sci Immunol. 2021 Aug 19;6(62):eabl4348. doi: 10.1126/sciimmunol.abl4348. Sci Immunol. 2021. PMID: 34413140 Free PMC article.
Clinical and Immunological Features of Human BCL10 Deficiency.
Garcia-Solis B, Van Den Rym A, Pérez-Caraballo JJ, Al-Ayoubi A, Alazami AM, Lorenzo L, Cubillos-Zapata C, López-Collazo E, Pérez-Martínez A, Allende LM, Markle J, Fernández-Arquero M, Sánchez-Ramón S, Recio MJ, Casanova JL, Mohammed R, Martinez-Barricarte R, Pérez de Diego R. Garcia-Solis B, et al. Among authors: van den rym a. Front Immunol. 2021 Nov 12;12:786572. doi: 10.3389/fimmu.2021.786572. eCollection 2021. Front Immunol. 2021. PMID: 34868072 Free PMC article.
Role of CD39 in COVID-19 Severity: Dysregulation of Purinergic Signaling and Thromboinflammation.
Díaz-García E, García-Tovar S, Alfaro E, Zamarrón E, Mangas A, Galera R, Ruíz-Hernández JJ, Solé-Violán J, Rodríguez-Gallego C, Van-Den-Rym A, Pérez-de-Diego R, Nanwani-Nanwani K, López-Collazo E, García-Rio F, Cubillos-Zapata C. Díaz-García E, et al. Among authors: van den rym a. Front Immunol. 2022 Jan 31;13:847894. doi: 10.3389/fimmu.2022.847894. eCollection 2022. Front Immunol. 2022. PMID: 35173744 Free PMC article.
Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement.
de la Fuente-Munoz E, Van Den Rym A, García-Solis B, Ochoa Grullón J, Guevara-Hoyer K, Fernández-Arquero M, Galán Dávila L, Matías-Guiú J, Sánchez-Ramón S, Pérez de Diego R. de la Fuente-Munoz E, et al. Among authors: van den rym a. Front Immunol. 2022 Jun 24;13:917601. doi: 10.3389/fimmu.2022.917601. eCollection 2022. Front Immunol. 2022. PMID: 35812399 Free PMC article.
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.
Lee D, Le Pen J, Yatim A, Dong B, Aquino Y, Ogishi M, Pescarmona R, Talouarn E, Rinchai D, Zhang P, Perret M, Liu Z, Jordan I, Elmas Bozdemir S, Bayhan GI, Beaufils C, Bizien L, Bisiaux A, Lei W, Hasan M, Chen J, Gaughan C, Asthana A, Libri V, Luna JM, Jaffré F, Hoffmann HH, Michailidis E, Moreews M, Seeleuthner Y, Bilguvar K, Mane S, Flores C, Zhang Y, Arias AA, Bailey R, Schlüter A, Milisavljevic B, Bigio B, Le Voyer T, Materna M, Gervais A, Moncada-Velez M, Pala F, Lazarov T, Levy R, Neehus AL, Rosain J, Peel J, Chan YH, Morin MP, Pino-Ramirez RM, Belkaya S, Lorenzo L, Anton J, Delafontaine S, Toubiana J, Bajolle F, Fumadó V, DeDiego ML, Fidouh N, Rozenberg F, Pérez-Tur J, Chen S, Evans T, Geissmann F, Lebon P, Weiss SR, Bonnet D, Duval X; CoV-Contact Cohort§; COVID Human Genetic Effort¶; Pan-Hammarström Q, Planas AM, Meyts I, Haerynck F, Pujol A, Sancho-Shimizu V, Dalgard CL, Bustamante J, Puel A, Boisson-Dupuis S, Boisson B, Maniatis T, Zhang Q, Bastard P, Notarangelo L, Béziat V, Perez de Diego R, Rodriguez-Gallego C, Su HC, Lifton RP, Jouanguy E, Cobat A, Alsina L, Keles S, Haddad E, Abel L, Belot A, Quintana-Murci L, Rice CM, Silverman RH, Zhang SY, Casanova JL. Lee D, et al. Science. 2023 Feb 10;379(6632):eabo3627. doi: 10.1126/science.abo3627. Epub 2023 Feb 10. Science. 2023. PMID: 36538032 Free PMC article.
18 results