Selected scientific publications

Recent and representative work

1. 2026: Unexpected genetically determined immune dysregulation with liver involvement: GIMAP5 therapeutic dilemmas between targeted therapy and HSCT. M Moratti et al. Frontiers in Immunology.
2. 2024: OTULIN-related conditions: report of a new case and review of the literature using GenIA. A Caballero-Oteyza, L Crisponi, XP Peng, H Wang, P Mrovecova, S Olla, et al. Clinical Immunology, 110292.
3. 2023: GenIA, the Genetic Immunology Advisor database for inborn errors of immunity. A Caballero-Oteyza, L Crisponi, XP Peng, K Yauy, S Volpi, S Giardino, et al. Journal of Allergy and Clinical Immunology 153 (3), 831-843.
4. 2023: ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality. E Sindram, A Caballero-Oteyza, N Kogata, S Chor Mei Huang, Z Alizadeh, et al. Disease Models and Mechanisms 16 (7).
5. 2022: Copy number analysis in a large cohort suggestive of inborn errors of immunity indicates a wide spectrum of relevant chromosomal losses and gains. R Wan, M Schieck, A Caballero-Oteyza, W Hofmann, AV Cochino, et al. Journal of Clinical Immunology 42 (5), 1083-1092.
6. 2021: Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis. N Frede, et al. Journal of Clinical Immunology.
7. 2021: Establishing molecular diagnoses in a cohort of 291 patients with predominantly antibody deficiency by targeted next-generation sequencing: experience from a monocentric study. J Rojas-Restrepo, A Caballero-Oteyza, K Huebscher, H Haberstroh, et al. Frontiers in Immunology 12, 786516.
8. 2021: Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice. L Wang, D Aschenbrenner, Z Zeng, X Cao, D Mayr, M Mehta, M Capitani, et al. Nature Genetics 53 (4), 500-510.
9. 2021: Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1. P Kury, J Staniek, O Wegehaupt, I Janowska, M Eckenweiler, et al. Journal of Allergy and Clinical Immunology 147 (5), 1977-1980.
10. 2019: ATP released by intestinal bacteria limits the generation of protective IgA against enteropathogens. M Proietti, L Perruzza, D Scribano, G Pellegrini, R D'Antuono, F Strati, et al. Nature Communications 10 (1), 250.
11. 2017: Screening of 181 patients with antibody deficiency for deficiency of adenosine deaminase 2 sheds new light on the disease in adulthood. J Schepp, M Proietti, N Frede, M Buchta, K Huebscher, J Rojas Restrepo, et al. Arthritis and Rheumatology 69 (8), 1689-1700.
12. 2014: ATP-gated ionotropic P2X7 receptor controls follicular T helper cell numbers in Peyer's patches to promote host-microbiota mutualism. M Proietti, V Cornacchione, TR Jost, A Romagnani, CE Faliti, L Perruzza, et al. Immunity 41 (5), 789-801.