Research

Study of Immune Deficiency Diseases in Paediatrics (GEMDIP)

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Publications

  • Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Baris S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martinez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW, NIHR-BioResource – Rare Diseases Consortium, Warnatz K and Grimbacher B.

    Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY . 146(4): 901-911. Number of citations: 66

    [doi:10.1016/j.jaci.2019.11.051]

  • Soler-García a, Fernández de Sevilla-Estrach M, Abad R, Esteva-Afonso C, Alsina L, Vázquez J, Munoz-Almagro C and Noguera-Julián A.

    Meningococcal Serogroup B Disease in Vaccinated Children

    Journal of the Pediatric Infectious Diseases Society . 9(4): 454-459. Number of citations: 5

    [doi:10.1093/jpids/piz071]

  • Gonzalez-Bertolin I, Izurieta-Pacheco AC, Borrull-Senra AM and Deyà-Martinez A.

    UVULA EDEMA AND DIARRHEA IN AN EIGHT-YEAR-OLD GIRL

    JOURNAL OF EMERGENCY MEDICINE . 59(2): 75-77.

    [doi:10.1016/j.jemermed.2020.05.019]

  • Deyà-Martinez A, Flinn AM and Gennery AR.

    Neonatal thymectomy in children-accelerating the immunologic clock?

    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY . 146(2): 236-243. Number of citations: 17

    [doi:10.1016/j.jaci.2020.02.028]

  • Martín-Nalda A, Fortuny-Guasch C, Rey L, Bunney TD, Alsina L, Esteve-Solé A, Bull D, Anton MC, Basagaña M, Casals F, Deyá A, García-Prat M, Gimeno R, Juan-Otero M, Martinez-Banaclocha H, Martinez-Garcia JJ, Mensa-Vilaró A, Rabionet-Janssen R, Martin-Begue N, Rudilla F, Yagüe-Ribes J, Estivill X, García-Patos V, Pujol RM, Soler-Palacín P, Katan M, Pelegrín P, Colobran R, Vicente-Villa MA and Arostegui-Gorospe JI.

    Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations

    JOURNAL OF CLINICAL IMMUNOLOGY . 40(7): 987-1000. Number of citations: 33

    [doi:10.1007/s10875-020-00794-7]

  • López M, Gonce A, Meler E, Plaza-Martín AM, Hernández-Bou S, Martinez-Portilla RJ, Cobo-Cobo T, García F, Gómez-Roig MD, Gratacós E, Palacio-Navarro A, Figueras F and on behalf of the COVID Collaborative Group.

    Coronavirus Disease 2019 in Pregnancy: A Clinical Management Protocol and Considerations for Practice

    FETAL DIAGNOSIS AND THERAPY . 47(7): 519-528. Number of citations: 41

    [doi:10.1159/000508487]

  • Deyà-Martinez A, Gordón Y, Molina-Anguita C, Vlagea A, Piquer-Gibert M, Juan-Otero M, Esteve-Solé A, Anton-Lopez J, Madrid Á, García-García A, Plaza-Martín AM, Armangue-Salvador T and Alsina L.

    Single-cycle rituximab-induced immunologic changes in children Enhanced in neuroimmunologic disease?

    NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION . 7(4): 724. Number of citations: 11

    [doi:10.1212/NXI.0000000000000724]

  • Fierro V, Valluzzi RL, Banzato C, Plaza-Martín AM, Bosque M, Íbero M, Echeverría LAZ, Mennini M, Dahdah L, de Castellar R, Tort G and Jiménez J.

    A well-tolerated new amino acid-based formula for cow's milk allergy

    IMMUNITY INFLAMMATION AND DISEASE . 8(2): 140-149. Number of citations: 4

    [doi:10.1002/iid3.286]

  • Garrido-Pérez N, Vela-Sebastián A, López-Gallardo E, Emperador S, Iglesias-Jimenez E, Meade P, Jimenez-Mallebrera C, Montoya C, Bayona-Bafaluy MP and Ruiz-Pesini E.

    Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 21(9): . Number of citations: 6

    [doi:10.3390/ijms21093374]

  • Giancane G, Swart JF, Castagnola E, Groll AH, Horneff G, Huppertz HI, Lovell DJ, Wolfs T, Herlin T, Dolezalova P, Sanner H, Susic G, Sztajnbok F, Maritsi D, Constantin T, Vargova V, Sawhney S, Rygg M, K Oliveira S, Cattalini M, Bovis F, Bagnasco F, Pistorio A, Martini A, Wulffraat N, Ruperto N and Paediatric Rheumatology International Trials Organisation (PRINTO).

    Opportunistic infections in immunosuppressed patients with juvenile idiopathic arthritis: analysis by the Pharmachild Safety Adjudication Committee.

    ARTHRITIS RESEARCH & THERAPY . 22(1): 71-71. Number of citations: 19

    [doi:10.1186/s13075-020-02167-2]