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Page 1
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. Among authors: seneviratne s. 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.
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.
Gámez-Díaz L, August D, Stepensky P, Revel-Vilk S, Seidel MG, Noriko M, Morio T, Worth AJJ, Blessing J, Van de Veerdonk F, Feuchtinger T, Kanariou M, Schmitt-Graeff A, Jung S, Seneviratne S, Burns S, Belohradsky BH, Rezaei N, Bakhtiar S, Speckmann C, Jordan M, Grimbacher B. Gámez-Díaz L, et al. Among authors: seneviratne s. J Allergy Clin Immunol. 2016 Jan;137(1):223-230. doi: 10.1016/j.jaci.2015.09.025. J Allergy Clin Immunol. 2016. PMID: 26768763
Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers.
Egg D, Schwab C, Gabrysch A, Arkwright PD, Cheesman E, Giulino-Roth L, Neth O, Snapper S, Okada S, Moutschen M, Delvenne P, Pecher AC, Wolff D, Kim YJ, Seneviratne S, Kim KM, Kang JM, Ojaimi S, McLean C, Warnatz K, Seidl M, Grimbacher B. Egg D, et al. Among authors: seneviratne s. Front Immunol. 2018 Sep 10;9:2012. doi: 10.3389/fimmu.2018.02012. eCollection 2018. Front Immunol. 2018. PMID: 30250467 Free PMC article.
Therapeutic options for CTLA-4 insufficiency.
Egg D, Rump IC, Mitsuiki N, Rojas-Restrepo J, Maccari ME, Schwab C, Gabrysch A, Warnatz K, Goldacker S, Patiño V, Wolff D, Okada S, Hayakawa S, Shikama Y, Kanda K, Imai K, Sotomatsu M, Kuwashima M, Kamiya T, Morio T, Matsumoto K, Mori T, Yoshimoto Y, Dybedal I, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Lorenz HM, Sullivan KE, Heimall J, Moutschen M, Litzman J, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Snapper S, Giulino-Roth L, Svaton M, Platt CD, Hambleton S, Neth O, Gosse G, Reinsch S, Holzinger D, Kim YJ, Bakhtiar S, Atschekzei F, Schmidt R, Sogkas G, Chandrakasan S, Rae W, Derfalvi B, Marquart HV, Ozen A, Kiykim A, Karakoc-Aydiner E, Králíčková P, de Bree G, Kiritsi D, Seidel MG, Kobbe R, Dantzer J, Alsina L, Armangue T, Lougaris V, Agyeman P, Nyström S, Buchbinder D, Arkwright PD, Grimbacher B. Egg D, et al. Among authors: seneviratne s. J Allergy Clin Immunol. 2022 Feb;149(2):736-746. doi: 10.1016/j.jaci.2021.04.039. Epub 2021 Jun 7. J Allergy Clin Immunol. 2022. PMID: 34111452 Free article.
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.
Spectrum and management of complement immunodeficiencies (excluding hereditary angioedema) across Europe.
Turley AJ, Gathmann B, Bangs C, Bradbury M, Seneviratne S, Gonzalez-Granado LI, Hackett S, Kutukculer N, Alachkar H, Hambleton S, Ritterbusch H, Kralickova P, Marodi L, Seidel MG, Dueckers G, Roesler J, Huissoon A, Baxendale H, Litzman J, Arkwright PD. Turley AJ, et al. Among authors: seneviratne s. J Clin Immunol. 2015 Feb;35(2):199-205. doi: 10.1007/s10875-015-0137-5. Epub 2015 Feb 8. J Clin Immunol. 2015. PMID: 25663093
Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency.
Wehr C, Gennery AR, Lindemans C, Schulz A, Hoenig M, Marks R, Recher M, Gruhn B, Holbro A, Heijnen I, Meyer D, Grigoleit G, Einsele H, Baumann U, Witte T, Sykora KW, Goldacker S, Regairaz L, Aksoylar S, Ardeniz Ö, Zecca M, Zdziarski P, Meyts I, Matthes-Martin S, Imai K, Kamae C, Fielding A, Seneviratne S, Mahlaoui N, Slatter MA, Güngör T, Arkwright PD, van Montfrans J, Sullivan KE, Grimbacher B, Cant A, Peter HH, Finke J, Gaspar HB, Warnatz K, Rizzi M; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiency. Wehr C, et al. Among authors: seneviratne s. J Allergy Clin Immunol. 2015 Apr;135(4):988-997.e6. doi: 10.1016/j.jaci.2014.11.029. Epub 2015 Jan 14. J Allergy Clin Immunol. 2015. PMID: 25595268
Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations.
Hou TZ, Verma N, Wanders J, Kennedy A, Soskic B, Janman D, Halliday N, Rowshanravan B, Worth A, Qasim W, Baxendale H, Stauss H, Seneviratne S, Neth O, Olbrich P, Hambleton S, Arkwright PD, Burns SO, Walker LS, Sansom DM. Hou TZ, et al. Among authors: seneviratne s. Blood. 2017 Mar 16;129(11):1458-1468. doi: 10.1182/blood-2016-10-745174. Epub 2017 Feb 3. Blood. 2017. PMID: 28159733 Free PMC article.
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.
Schubert D, Bode C, Kenefeck R, Hou TZ, Wing JB, Kennedy A, Bulashevska A, Petersen BS, Schäffer AA, Grüning BA, Unger S, Frede N, Baumann U, Witte T, Schmidt RE, Dueckers G, Niehues T, Seneviratne S, Kanariou M, Speckmann C, Ehl S, Rensing-Ehl A, Warnatz K, Rakhmanov M, Thimme R, Hasselblatt P, Emmerich F, Cathomen T, Backofen R, Fisch P, Seidl M, May A, Schmitt-Graeff A, Ikemizu S, Salzer U, Franke A, Sakaguchi S, Walker LSK, Sansom DM, Grimbacher B. Schubert D, et al. Among authors: seneviratne s. Nat Med. 2014 Dec;20(12):1410-1416. doi: 10.1038/nm.3746. Epub 2014 Oct 20. Nat Med. 2014. PMID: 25329329 Free PMC article.
471 results