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Page 1
"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.
Olyha SJ, O'Connor SK, Kribis M, Bucklin ML, Uthaya Kumar DB, Tyler PM, Alam F, Jones KM, Sheikha H, Konnikova L, Lakhani SA, Montgomery RR, Catanzaro J, Du H, DiGiacomo DV, Rothermel H, Moran CJ, Fiedler K, Warner N, Hoppenreijs EPAH, van der Made CI, Hoischen A, Olbrich P, Neth O, Rodríguez-Martínez A, Lucena Soto JM, van Rossum AMC, Dalm VASH, Muise AM, Lucas CL. Olyha SJ, et al. Among authors: olbrich p. J Clin Immunol. 2024 Jan 17;44(2):44. doi: 10.1007/s10875-023-01610-8. J Clin Immunol. 2024. PMID: 38231408
Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature.
Deyà-Martínez A, Rivière JG, Roxo-Junior P, Ramakers J, Bloomfield M, Guisado Hernandez P, Blanco Lobo P, Abu Jamra SR, Esteve-Sole A, Kanderova V, García-García A, Lopez-Corbeto M, Martinez Pomar N, Martín-Nalda A, Alsina L, Neth O, Olbrich P. Deyà-Martínez A, et al. Among authors: olbrich p. J Clin Immunol. 2022 Jul;42(5):1071-1082. doi: 10.1007/s10875-022-01257-x. Epub 2022 Apr 29. J Clin Immunol. 2022. PMID: 35486339 Free PMC article. Review.
SARS-CoV-2 infection in a pediatrics STAT1 GOF patient under Ruxolitinib therapy-a matter of balance?
Guisado Hernández P, Blanco Lobo P, Villaoslada I, de Felipe B, Lucena JM, Martín Gutierrez G, Castro MJ, Gutiérrez Valencia A, Sánchez Codez MI, Gaboli M, Neth O, Olbrich P. Guisado Hernández P, et al. Among authors: olbrich p. J Clin Immunol. 2021 Oct;41(7):1502-1506. doi: 10.1007/s10875-021-01081-9. Epub 2021 Jun 9. J Clin Immunol. 2021. PMID: 34109505 Free PMC article. No abstract available.
Ex vivo effect of JAK inhibition on JAK-STAT1 pathway hyperactivation in patients with dominant-negative STAT3 mutations.
Lobo PB, Guisado-Hernández P, Villaoslada I, de Felipe B, Carreras C, Rodriguez H, Carazo-Gallego B, Méndez-Echevarria A, Lucena JM, Aljaro PO, Castro MJ, Noguera-Uclés JF, Milner JD, McCann K, Zimmerman O, Freeman AF, Lionakis MS, Holland SM, Neth O, Olbrich P. Lobo PB, et al. Among authors: olbrich p. J Clin Immunol. 2022 Aug;42(6):1193-1204. doi: 10.1007/s10875-022-01273-x. Epub 2022 May 4. J Clin Immunol. 2022. PMID: 35507130 Free article.
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P… See abstract for full author list ➔ Leiding JW, et al. Among authors: olbrich p. J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. J Allergy Clin Immunol. 2023. PMID: 36228738 Free PMC article.
Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.
López-Nevado M, González-Granado LI, Ruiz-García R, Pleguezuelo D, Cabrera-Marante O, Salmón N, Blanco-Lobo P, Domínguez-Pinilla N, Rodríguez-Pena R, Sebastián E, Cruz-Rojo J, Olbrich P, Ruiz-Contreras J, Paz-Artal E, Neth O, Allende LM. López-Nevado M, et al. Among authors: olbrich p. Front Immunol. 2021 Aug 10;12:671755. doi: 10.3389/fimmu.2021.671755. eCollection 2021. Front Immunol. 2021. PMID: 34447369 Free PMC article.
Study of an extended family with CTLA-4 deficiency suggests a CD28/CTLA-4 independent mechanism responsible for differences in disease manifestations and severity.
Hou TZ, Olbrich P, Soto JML, Sanchez B, Moreno PS, Borte S, Stauss HJ, Burns SO, Walker LSK, Pan-Hammarström Q, Hammarström L, Sansom DM, Neth O. Hou TZ, et al. Among authors: olbrich p. Clin Immunol. 2018 Mar;188:94-102. doi: 10.1016/j.clim.2018.01.001. Epub 2018 Jan 3. Clin Immunol. 2018. PMID: 29305966 Free article.
Typhoid fever causing haemophagocytic lymphohistiocytosis in a non-endemic country - first case report and review of the current literature.
Sánchez-Moreno P, Olbrich P, Falcón-Neyra L, Lucena JM, Aznar J, Neth O. Sánchez-Moreno P, et al. Among authors: olbrich p. Enferm Infecc Microbiol Clin (Engl Ed). 2019 Feb;37(2):112-116. doi: 10.1016/j.eimc.2018.04.011. Epub 2018 Jun 7. Enferm Infecc Microbiol Clin (Engl Ed). 2019. PMID: 29887216 Review. English, Spanish.
72 results