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OTULIN-related conditions: Report of a new case and review of the literature using GenIA.
Caballero-Oteyza A, Crisponi L, Peng XP, Wang H, Mrovecova P, Olla S, Siguri C, Marnissi F, Jouhadi Z, Aksentijevich I, Grimbacher B, Proietti M. Caballero-Oteyza A, et al. Among authors: proietti m. Clin Immunol. 2024 Aug;265:110292. doi: 10.1016/j.clim.2024.110292. Epub 2024 Jun 22. Clin Immunol. 2024. PMID: 38914362 Free article. Review.
[Macrocytic anemia and polychondritis: VEXAS syndrome].
Zeisbrich M, Schindler V, Krausz M, Proietti M, Mrovecova P, Voll RE, Glaser C, Röther F, Warnatz K, Venhoff N. Zeisbrich M, et al. Among authors: proietti m. Z Rheumatol. 2024 Apr;83(3):229-233. doi: 10.1007/s00393-023-01318-5. Epub 2023 Feb 3. Z Rheumatol. 2024. PMID: 36735069 Free PMC article. German.
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: proietti m. 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.
Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing.
Alizadeh Z, Fazlollahi MR, Mazinani M, Badalzadeh M, Heydarlou H, Carapito R, Molitor A, de Oteyza ACG, Proietti M, Bavani MS, Shariat M, Fallahpour M, Movahedi M, Moradi L, Grimbacher B, Bahram S, Pourpak Z. Alizadeh Z, et al. Among authors: proietti m. Genes Immun. 2023 Aug;24(4):207-214. doi: 10.1038/s41435-023-00215-w. Epub 2023 Jul 29. Genes Immun. 2023. PMID: 37516813
Telomere biology disorders may manifest as common variable immunodeficiency (CVID).
Rolles B, Caballero-Oteyza A, Proietti M, Goldacker S, Warnatz K, Camacho-Ordonez N, Prader S, Schmid JP, Vieri M, Isfort S, Meyer R, Kirschner M, Brümmendorf TH, Beier F, Grimbacher B. Rolles B, et al. Among authors: proietti m. Clin Immunol. 2023 Dec;257:109837. doi: 10.1016/j.clim.2023.109837. Epub 2023 Nov 8. Clin Immunol. 2023. PMID: 37944684
GenIA, the Genetic Immunology Advisor database for inborn errors of immunity.
Caballero-Oteyza A, Crisponi L, Peng XP, Yauy K, Volpi S, Giardino S, Freeman AF, Grimbacher B, Proietti M. Caballero-Oteyza A, et al. Among authors: proietti m. J Allergy Clin Immunol. 2024 Mar;153(3):831-843. doi: 10.1016/j.jaci.2023.11.022. Epub 2023 Nov 30. J Allergy Clin Immunol. 2024. PMID: 38040041 Free article.
OTULIN-related conditions: Report of a new case and review of the literature using GenIA.
Caballero-Oteyza A, Crisponi L, Peng XP, Wang H, Mrovecova P, Olla S, Siguri C, Marnissi F, Jouhadi Z, Aksentijevich I, Grimbacher B, Proietti M. Caballero-Oteyza A, et al. Among authors: proietti m. Res Sq [Preprint]. 2024 Mar 8:rs.3.rs-3950863. doi: 10.21203/rs.3.rs-3950863/v2. Res Sq. 2024. Update in: Clin Immunol. 2024 Aug;265:110292. doi: 10.1016/j.clim.2024.110292. PMID: 38712244 Free PMC article. Updated. Preprint.
A novel transmembrane CXCR4 variant that expands the WHIM genotype-phenotype paradigm.
Zmajkovicova K, Pawar S, Sharapova SO, Geier CB, Wiest I, Nguyen C, Monticelli H, Maier-Munsa S, Chen K, Sleasman JW, Aleshkevich S, Polyakova E, Sakovich I, Warnatz K, Grimbacher B, Proietti M, Sondheimer N, Ujhazi B, Gordon S, Ellison M, Yilmaz M, Walter JE, Badarau A, Taveras AG, Neff JL, Bledsoe JR, Tarrant TK. Zmajkovicova K, et al. Among authors: proietti m. Blood Adv. 2024 Jul 23;8(14):3754-3759. doi: 10.1182/bloodadvances.2023011875. Blood Adv. 2024. PMID: 38768429 Free PMC article. No abstract available.
437 results