Primary immunodeficiencies is a group of disorders that comprises inborn errors of immunity. Affected patients are characterized by recurrent infections or other immunological problems.
The first hereditary disorders which showed impaired immune defense were X-linked agammaglobulinemia, congenital
neutropenia, and severe combined immunodeficiency(SCID). There first primary immunodeficiencies were mostly hematopoietic, recessive, rare, and monogenic.[Error: Macro 'ref' doesn't exist]
Prediposition to severe infectious diseases historically was the hallmark of primary immunodeficiencies. Today other phenotypes may are included autoimmunity, angioedema, granulomas, autoinflammation, hemophagocytosis, and thrombotic microangiopathy.
The prevalence of primary immunodeficiencies is estimated about 1:2000. However, if the complexity of the immune system is taken into account and the fact that some defects only manifest under specific environmental conditions, we may conclude that almost everybody carries some sort of immunodeficiency.[Error: Macro 'ref' doesn't exist]
Casanova JL et al. (2007) Primary immunodeficiencies: a field in its infancy.[^]
Orphanet articleOrphanet ID 101997 [^]
Wikipedia articleWikipedia EN (Primary_immunodeficiency) [^]