Cellular and molecular basis of immunodeficiencies: their consequences for the development and induction of the...

This review lists primary immunodeficiencies which essentially involve mutations in genes coding for functionally important molecules, membrane antigens (e.g., MHC), chains of lymphokine receptors, protein kinases of the signal cascade, transcription factors, and important regulators of cellular metabolism. Mutations and subsequent immunodeficiencies occur as early as during embryogenesis (lymphopoiesis-I) as well as during induction of the immune response by antigen (ligand) binding to cell receptors, TCR and BCR (immunopoiesis-II). Immunodeficiencies are classified according the developmental stages in which they occur most markedly, even in clinical terms. Some early mutations are immediately lethal, some express themselves by blocking embryonic lymphopoiesis, while other mutations do not become demonstrable until after cell stimulation by antigens (see the Tables).