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The GAIN Registry - a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation.
Staus P, Rusch S, El-Helou S, Müller G, Krausz M, Geisen U, Caballero-Oteyza A, Krüger R, Bakhtiar S, Lee-Kirsch MA, Fasshauer M, Baumann U, Hoyer BF, Farela Neves J, Borte M, Carrabba M, Hauck F, Ehl S, Bader P, von Bernuth H, Atschekzei F, Seppänen MRJ, Warnatz K, Nieters A, Kindle G, Grimbacher B. Staus P, et al. Among authors: caballero oteyza a. J Clin Immunol. 2023 Aug;43(6):1289-1301. doi: 10.1007/s10875-023-01472-0. Epub 2023 Apr 21. J Clin Immunol. 2023. PMID: 37084016 Free PMC article.
Motor protein mutations cause a new form of hereditary spastic paraplegia.
Caballero Oteyza A, Battaloğlu E, Ocek L, Lindig T, Reichbauer J, Rebelo AP, Gonzalez MA, Zorlu Y, Ozes B, Timmann D, Bender B, Woehlke G, Züchner S, Schöls L, Schüle R. Caballero Oteyza A, et al. Neurology. 2014 Jun 3;82(22):2007-16. doi: 10.1212/WNL.0000000000000479. Epub 2014 May 7. Neurology. 2014. PMID: 24808017 Free PMC article.
Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1).
Schubert D, Klein MC, Hassdenteufel S, Caballero-Oteyza A, Yang L, Proietti M, Bulashevska A, Kemming J, Kühn J, Winzer S, Rusch S, Fliegauf M, Schäffer AA, Pfeffer S, Geiger R, Cavalié A, Cao H, Yang F, Li Y, Rizzi M, Eibel H, Kobbe R, Marks AL, Peppers BP, Hostoffer RW, Puck JM, Zimmermann R, Grimbacher B. Schubert D, et al. J Allergy Clin Immunol. 2018 Apr;141(4):1427-1438. doi: 10.1016/j.jaci.2017.06.042. Epub 2017 Aug 4. J Allergy Clin Immunol. 2018. PMID: 28782633 Free PMC article.
Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency.
Magg T, Okano T, Koenig LM, Boehmer DFR, Schwartz SL, Inoue K, Heimall J, Licciardi F, Ley-Zaporozhan J, Ferdman RM, Caballero-Oteyza A, Park EN, Calderon BM, Dey D, Kanegane H, Cho K, Montin D, Reiter K, Griese M, Albert MH, Rohlfs M, Gray P, Walz C, Conn GL, Sullivan KE, Klein C, Morio T, Hauck F. Magg T, et al. Sci Immunol. 2021 Jun 18;6(60):eabf9564. doi: 10.1126/sciimmunol.abf9564. Sci Immunol. 2021. PMID: 34145065 Free PMC article.
Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.
Rojas-Restrepo J, Caballero-Oteyza A, Huebscher K, Haberstroh H, Fliegauf M, Keller B, Kobbe R, Warnatz K, Ehl S, Proietti M, Grimbacher B. Rojas-Restrepo J, et al. Among authors: caballero oteyza a. Front Immunol. 2021 Dec 17;12:786516. doi: 10.3389/fimmu.2021.786516. eCollection 2021. Front Immunol. 2021. PMID: 34975878 Free PMC article.
Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains.
Wan R, Schieck M, Caballero-Oteyza A, Hofmann W, Cochino AV, Shcherbina A, Sherkat R, Wache-Mainier C, Fernandez A, Sultan M, Illig T, Grimbacher B, Proietti M, Steinemann D. Wan R, et al. Among authors: caballero oteyza a. J Clin Immunol. 2022 Jul;42(5):1083-1092. doi: 10.1007/s10875-022-01276-8. Epub 2022 Apr 29. J Clin Immunol. 2022. PMID: 35486341 Free PMC article.
Common Variable Immunodeficiency: More Pathways than Roads to Rome.
Peng XP, Caballero-Oteyza A, Grimbacher B. Peng XP, et al. Among authors: caballero oteyza a. Annu Rev Pathol. 2023 Jan 24;18:283-310. doi: 10.1146/annurev-pathmechdis-031521-024229. Epub 2022 Oct 20. Annu Rev Pathol. 2023. PMID: 36266261 Free article. Review.
ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality.
Sindram E, Caballero-Oteyza A, Kogata N, Chor Mei Huang S, Alizadeh Z, Gámez-Díaz L, Fazlollhi MR, Peng X, Grimbacher B, Way M, Proietti M. Sindram E, et al. Among authors: caballero oteyza a. Dis Model Mech. 2023 Jul 1;16(7):dmm050145. doi: 10.1242/dmm.050145. Epub 2023 Jul 20. Dis Model Mech. 2023. PMID: 37382373 Free PMC article.
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