Research

Study of Immune Deficiency Diseases in Paediatrics (GEMDIP)

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Publications

  • Foeldvari I, Maccora I, Petrushkin H, Rahman N, Anton-Lopez J, de Boer J, Calzada-Hernández J, Carreras E, Diaz J, Edelsten C, Angeles-Han ST, Heiligenhaus A, Miserocchi E, Nielsen S, Saurenmann RK, Stuebiger N, Baquet-Walscheid K, Furst D and Simonini G.

    New and Updated Recommendations for the Treatment of Juvenile Idiopathic Arthritis-Associated Uveitis and Idiopathic Chronic Anterior Uveitis

    ARTHRITIS CARE & RESEARCH . 75(5): 975-982. Number of citations: 21

    [doi:10.1002/acr.24963]

  • Bru S, Brotons-de los Reyes P, Jordán-García I, Alsina L, Henares-Bonilla D, Carballar R, Fernández de Sevilla-Estrach M, Barrabeig I, Fumadó V, Baro B, Martínez-Láinez JM, García-García JJ, Bassat Q, Balaguer A, Clotet J, Launes-Montana C and Munoz-Almagro C.

    Association between soluble angiotensin-converting enzyme 2 in saliva and SARS-CoV-2 infection: a cross-sectional study

    SCIENTIFIC REPORTS . 13(1): 5985-5985. Number of citations: 1

    [doi:10.1038/s41598-023-31911-2]

  • Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Abou Tayoun A, Aiuti A, Alavi Darazam I, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoglu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Metin Akcan O, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, von Bernuth H, Lermine A, Vidaud M, Boland A, Deleuze JF, Nussbaum R, Kahn-Kirby A, Mentre F, Tubiana S, Gorochov G, Tubach F, Hausfater P, Meyts I, Zhang SY, Puel A, Notarangelo LD, Boisson-Dupuis S, Su HC, Boisson B, Jouanguy E, Casanova JL, Zhang Q, Abel L and Cobat A.

    Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

    GENOME MEDICINE . 15(1): 22-22. Number of citations: 30

    [doi:10.1186/s13073-023-01173-8]

  • Pino-Ramirez RM, Antoñanzas JM, Paredes-Carmona F, Perramon A, Rivière JG, Coma M, Martínez-Mejías A, Ripoll F, López N, Conti R, Sala-Castellví P, Ruiz M, Brio S, García-Lorenzo M, Esteller M, Carreras-Abad C, Herrero-Hernando C, Schneider SO, Gatell A, Aguilar I, Cantero J, Ruiz G, Fenollosa T, ZULEMA LOBATO SALINAS, Villalobos P, Ester Mora, Anton-Lopez J, Visa-Reñé N, Soler-Palacin P, Calavia O, Esquirol-Herrero C, Guarch-Ibañez B, García-García JJ, Coma E, Fina F, Prats C and Soriano-Arandes A.

    Multisystem inflammatory syndrome in children and SARS-CoV-2 variants: a two-year ambispective multicentric cohort study in Catalonia, Spain

    EUROPEAN JOURNAL OF PEDIATRICS . 182(4): 1897-1909. Number of citations: 14

    [doi:10.1007/s00431-023-04862-z]

  • García-García AP, Pérez de Diego R, Flores C, Rinchai D, Solé-Violán J, Deyà-Martinez A, García-Solis B, Lorenzo-Salazar JM, Hernández-Brito E, Lanz AL, Moens L, Bucciol G, Almuqamam M, Domachowske JB, Colino E, Santos-Perez JL, Marco FM, Pignata C, Bousfiha A, Turvey SE, Bauer S, Haerynck F, Ocejo-Vinyals JG, Lendinez F, Prader S, Naumann-Bartsch N, Pachlopnik Schmid J, Biggs CM, Hildebrand K, Dreesman A, Cárdenes MÁ, Ailal F, Benhsaien I, Giardino G, Molina-Fuentes A, Fortuny-Guasch C, Madhavarapu S, Conway DH, Prando C, Schidlowski L, Martínez de Saavedra Álvarez MT, Alfaro R, Rodríguez de Castro F, Meyts I, Hauck F, Puel A, Bastard P, Boisson B, Jouanguy E, Abel L, Cobat A, Zhang Q, Casanova JL, Alsina L and Rodríguez-Gallego C.

    Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

    JOURNAL OF EXPERIMENTAL MEDICINE . 220(5): . Number of citations: 20

    [doi:10.1084/jem.20220170]

  • Sobrino S, Magnani A, Semeraro M, Martignetti L, Cortal A, Denis A, Couzin C, Picard C, Bustamante J, Magrin E, Joseph L, Roudaut C, Gabrion A, Soheili T, Cordier C, Lortholary O, Lefrere F, Rieux-Laucat F, Casanova JL, Bodard S, Boddaert N, Thrasher AJ, Touzot F, Taque S, Suarez F, Marcais A, Guilloux A, Lagresle-Peyrou C, Galy A, Rausell A, Blanche S, Cavazzana M and Six E.

    Severe hematopoietic stem cell inflammation compromises chronic granulomatous disease gene therapy

    CELL REPORTS MEDICINE . 4(2): 100919-100919. Number of citations: 9

    [doi:10.1016/j.xcrm.2023.100919]

  • 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, Jordán-García 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-Lopez 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, Covid HGE, Pan-Hammarström Q, Planas AM, Meyts I, Haerynck F, Pujol A, Sancho-Shimizu V, Dalgard C, 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 and Casanova JL.

    Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children

    SCIENCE . 379(6632): 554-3627. Number of citations: 73

    [doi:10.1126/science.abo3627]

  • Forcade E, Bacquet S, Ballot C, Capin L, Garnier F, Giraud C, Guérout-Vérité MA, Letellier C, Magnani A, Mamez AC, Nasone J, Sinayoko M, Baudoux E, Mialou V, Yakoub-Agha I and Calmels B.

    Method and impact of allografts cryopreservation during the Covid-19 pandemic: Guidelines from the SFGM-TC

    BULLETIN DU CANCER . 110(2): 39-47. Number of citations: 1

    [doi:10.1016/j.bulcan.2022.03.015]

  • Luo Y, Acevedo D, Baños-Lopez N, Pluma A, Castellanos-Moreira R, Moreno E, Rodríguez-García S, Deyà-Martinez A, García-García AP, Quesada-Masachs E, Torres M, Casellas M, Grados D, Martí-Castellote C, Anton-Lopez J, Vlagea A, Juan-Otero M, Esteve-Solé A and Alsina L.

    Expected impact of immunomodulatory agents during pregnancy: A newborn's perspective

    PEDIATRIC ALLERGY AND IMMUNOLOGY . 34(2): . Number of citations: 7

    [doi:10.1111/pai.13911]

  • García-García AP, Fortuny-Guasch C, Fumadó V, Jordán-García I, Ruiz-López L, González-Navarro EA, Egri N, Esteve-Solé A, Luo Y, Vlagea A, Manuel Monsonis Cabedo, Launes-Montana C, Soler-García a, Codina-Bergadà A, Juan-Otero M, Pascal-Capdevila R, Deyà-Martinez A and Alsina L.

    Acute and long-term immune responses to SARS-CoV-2 infection in unvaccinated children and young adults with inborn errors of immunity

    FRONTIERS IN IMMUNOLOGY . 14: 1084630-1084630. Number of citations: 2

    [doi:10.3389/fimmu.2023.1084630]