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Page 1
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study.
Fischer M, Olbrich P, Hadjadj J, Aumann V, Bakhtiar S, Barlogis V, von Bismarck P, Bloomfield M, Booth C, Buddingh EP, Cagdas D, Castelle M, Chan AY, Chandrakasan S, Chetty K, Cougoul P, Crickx E, Dara J, Deyà-Martínez A, Farmand S, Formankova R, Gennery AR, Gonzalez-Granado LI, Hagin D, Hanitsch LG, Hanzlikovà J, Hauck F, Ivorra-Cortés J, Kisand K, Kiykim A, Körholz J, Leahy TR, van Montfrans J, Nademi Z, Nelken B, Parikh S, Plado S, Ramakers J, Redlich A, Rieux-Laucat F, Rivière JG, Rodina Y, Júnior PR, Salou S, Schuetz C, Shcherbina A, Slatter MA, Touzot F, Unal E, Lankester AC, Burns S, Seppänen MRJ, Neth O, Albert MH, Ehl S, Neven B, Speckmann C. Fischer M, et al. Among authors: deya martinez a. J Allergy Clin Immunol. 2024 Jan;153(1):275-286.e18. doi: 10.1016/j.jaci.2023.10.018. Epub 2023 Nov 5. J Allergy Clin Immunol. 2024. PMID: 37935260
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.
Schwab C, Gabrysch A, Olbrich P, Patiño V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom DM, Lucena JM, Seidl M, Schmitt-Graeff A, Reiser V, Emmerich F, Frede N, Bulashevska A, Salzer U, Schubert D, Hayakawa S, Okada S, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Sumnik Z, Sediva A, Slatter M, Arkwright PD, Cant A, Lorenz HM, Giese T, Lougaris V, Plebani A, Price C, Sullivan KE, Moutschen M, Litzman J, Freiberger T, van de Veerdonk FL, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Speckmann C, Ehl S, Leichtner A, Blumberg R, Franke A, Snapper S, Zeissig S, Cunningham-Rundles C, Giulino-Roth L, Elemento O, Dückers G, Niehues T, Fronkova E, Kanderová V, Platt CD, Chou J, Chatila TA, Geha R, McDermott E, Bunn S, Kurzai M, Schulz A, Alsina L, Casals F, Deyà-Martinez A, Hambleton S, Kanegane H, Taskén K, Neth O, Grimbacher B. Schwab C, et al. J Allergy Clin Immunol. 2018 Dec;142(6):1932-1946. doi: 10.1016/j.jaci.2018.02.055. Epub 2018 May 4. J Allergy Clin Immunol. 2018. PMID: 29729943 Free PMC article.
Outcome of autoimmune cytopenia after hematopoietic cell transplantation in primary immunodeficiency.
Lum SH, Selvarajah S, Deya-Martinez A, McNaughton P, Sobh A, Waugh S, Burton-Fanning S, Newton L, Gandy J, Nademi Z, Owens S, Williams E, Emonts M, Flood T, Cant A, Abinun M, Hambleton S, Gennery AR, Slatter M. Lum SH, et al. J Allergy Clin Immunol. 2020 Aug;146(2):406-416. doi: 10.1016/j.jaci.2020.04.053. Epub 2020 May 19. J Allergy Clin Immunol. 2020. PMID: 32442647
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. 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.
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
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, Barış 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-Martínez 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; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
Impact of cytomegalovirus infection prior to hematopoietic stem cell transplantation in children with inborn errors of immunity.
Del Rosal T, Quintana-Ortega C, Deyá-Martinez A, Soler-Palacín P, Goycochea-Valdivia WA, Salmón N, Pérez-Martínez A, Alsina L, Martín-Nalda A, Alonso L, Neth O, Bravo-Gallego LY, Gonzalez-Granado LI, Mendez-Echevarria A. Del Rosal T, et al. Among authors: deya martinez a. Eur J Pediatr. 2022 Nov;181(11):3889-3898. doi: 10.1007/s00431-022-04614-5. Epub 2022 Sep 14. Eur J Pediatr. 2022. PMID: 36102997 Free PMC article.
Correction: Improved survival and graft function in ex vivo T-cell depleted haploidentical hematopoietic cell transplantation for primary immunodeficiency.
Lum SH, Sobh A, Carruthers K, Nademi Z, Watson H, McNaughton P, Selvarajah S, Deyà-Martínez A, Abinun M, Flood T, Cant A, Hambleton S, Gennery AR, Slatter M. Lum SH, et al. Bone Marrow Transplant. 2021 Jun;56(6):1483-1484. doi: 10.1038/s41409-020-01175-9. Bone Marrow Transplant. 2021. PMID: 35145239 No abstract available.
Improved survival and graft function in ex vivo T-cell depleted haploidentical hematopoietic cell transplantation for primary immunodeficiency.
Lum SH, Sobh A, Carruthers K, Nademi Z, Watson H, McNaughton P, Selvarajah S, Deyà-Martínez A, Abinun M, Flood T, Cant A, Hambleton S, Gennery AR, Slatter M. Lum SH, et al. Bone Marrow Transplant. 2021 May;56(5):1200-1204. doi: 10.1038/s41409-020-01152-2. Epub 2020 Nov 24. Bone Marrow Transplant. 2021. PMID: 33235352 No abstract available.
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.
Le Voyer T, Sakata S, Tsumura M, Khan T, Esteve-Sole A, Al-Saud BK, Gungor HE, Taur P, Jeanne-Julien V, Christiansen M, Köhler LM, ElGhazali GE, Rosain J, Nishimura S, Sakura F, Bouaziz M, Oleaga-Quintas C, Nieto-Patlán A, Deyà-Martinez À, Altuner Torun Y, Neehus AL, Roynard M, Bozdemir SE, Al Kaabi N, Al Hassani M, Mersiyanova I, Rozenberg F, Speckmann C, Hainmann I, Hauck F, Alzahrani MH, Alhajjar SH, Al-Muhsen S, Cole T, Fuleihan R, Arkwright PD, Badolato R, Alsina L, Abel L, Desai M, Al-Mousa H, Shcherbina A, Marr N, Boisson-Dupuis S, Casanova JL, Okada S, Bustamante J. Le Voyer T, et al. J Immunol. 2021 Jul 1;207(1):133-152. doi: 10.4049/jimmunol.2001451. Epub 2021 Jun 28. J Immunol. 2021. PMID: 34183371 Free PMC article.
42 results