Publications

List of selected publications

1. GenIA, the Genetic Immunology Advisor database for inborn errors of immunity. A Caballero-Oteyza, L Crisponi, XP Peng, K Yauy, S Volpi, S Giardino, … Journal of Allergy and Clinical Immunology 153 (3), 831-843

2. 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, …Clinical Immunology, 110292

3. ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality. E Sindram, A Caballero-Oteyza, N Kogata, S Chor Mei Huang, Z Alizadeh, … Disease models & mechanisms 16 (7)

4. 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, …Journal of clinical immunology 42 (5), 1083-1092 *co-last author

5. Establishing the 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, … Frontiers in Immunology 12, 786516. *co-last author

6. Screening of 181 patients with antibody deficiency for deficiency of adenosine deaminase 2 sheds new light on the disease in adulthood

7. J Schepp, M Proietti, N Frede, M Buchta, K Hübscher, J Rojas Restrepo, … Arthritis & Rheumatology 69 (8), 1689-1700. *co-first author

8. ATP-gated ionotropic P2X7 receptor controls follicular T helper cell numbers in Peyer’s patches to promote host-microbiota mutualism

9. M Proietti, V Cornacchione, TR Jost, A Romagnani, CE Faliti, L Perruzza, … Immunity 41 (5), 789-801

10. 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, … Nature communications 10 (1), 250

11. 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, … Nature genetics 53 (4), 500-510

12. Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1. P Kury, J Staniek, O Wegehaupt, I Janowska, M Eckenweiler, … Journal of Allergy and Clinical Immunology 147 (5), 1977-1980

Prizes and awards

• 2016 Italian Scleroderma Society “GILS”, Award as young researcher in Systemic Sclerosis

• 2018 Foreign postdoctoral fellow Instute Curie Research Centre