Question

why is the term “inborn errors of immunity” now being used instead of “primary immunodeficiencies” to encompass inherited immune system defects? Explain (6marks)

Answer 1

Inborn errors of immunity are not limited to conventional primary immunodeficiencies which are associated with overt immunological phenotype and multiple infectious phenotypes. The non conventional primary immunodeficiency may be recessive or dominant and may or may not affect the cells derived from the hemopoietic lineage.

Inborn errors of immunity are genetic disorders with broad clinical manifestation ranging from increased susceptibility to infections to significant immune disregulation leads to multiple autoimmune phenomena lymphoproliferation and malignancy.

The treatment is challenging as it requires careful balancing of immunosuppression in subjects at increased risk of infection. The improved ability to define inborn errors of immunity pathophysiology at molecular level has set the basis for the development of targeted therapeutic invention.