Cód. SSPA: IBiS-A-14
The Congenital Alterations of Immunity group (Inborn Error of Immunity, IEI), led by Dr. Olaf Neth, is part of the Pediatric Unit of Infectious Diseases, Rheumatology and Immunology of the Hospital Universitario Virgen del Rocío in Seville (HUVR), a local, regional, national and international reference, aimed at care, research and education.
Likewise, the IEI group is included in the area of Infectious Diseases and the Immune System of the Instituto de Biomedicina de Sevilla (IBiS).
The main active research lines of the IEI group are:
- Neonatal screening for early detection of primary immunodeficiencies (PIDs)
- Quantification of T-cell receptor excision circles (TREC) and K-deleting recombination excision circles (KREC) through the newborn heel test.
-Expansion of SMN1 for early diagnosis of spinal muscular atrophy (SMA) with the same heel test
- Optimization of the diagnosis and management of patients with immune disorders
- Evaluation of the specific therapeutic impact of the use of JAK1/2 inhibitors in patients (in vitro) and in a murine model (in vivo) with STAT3 LOF and STAT1 GOF, as well as studying the susceptibility to pulmonary infections due to S aureus and S pneumoniae in mut-STAT3 LOF and mut-STAT1 GOF transgenic mice
- Screening for ADA2 deficiency in children and adults, an underdiagnosed autoinflammatory disease with a wide clinical spectrum and co-morbidity.
- Proteomic approaches for the development of anti-pneumococcal vaccines and novel diagnostic methods
- “Reinforced” epidemiological surveillance of invasive pneumococcal disease in pediatric patients.
- Characterization of the epidemiology and serotypes/genotypes of S. pneumoniae in nasopharyngeal carriers.
- Identification of potential promising protein vaccine candidates based on their abundance, conservation and immunogenic capacity.
