Timo Hautala

机构：Oulu University Hospital · ORCID：0000-0001-7889-1614

发表论文 88 篇 · 总被引 2370 次 · h-index 28

代表论文

• PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants (2023 · Journal of Allergy and Clinical Immunology · 被引 57)
• Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction (2021 · Journal of Allergy and Clinical Immunology · 被引 49)
• Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae (2022 · Clinical Immunology · 被引 24)
• Central Nervous System and Ocular Manifestations in Puumala Hantavirus Infection (2021 · Viruses · 被引 21)
• Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis (2024 · Cell Reports Medicine · 被引 18)
• A20 haploinsufficiency disturbs immune homeostasis and drives the transformation of lymphocytes with permissive antigen receptors (2024 · Science Advances · 被引 15)