ernstige gecombineerde immunodeficiëntie door volledige deficiëntie van 'recombination-activating gene' 1 en/of 'recombination-activating gene' 2
A rare genetic T cell negative B cell negative severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present