01928nas a2200385   4500000000100000008004100001260001300042653001000055653001000065653003700075653001800112653003300130653003600163653001100199653003800210653001300248653001100261653003700272653004600309653001200355653000900367653001400376653002600390653003000416653001700446100001500463700001400478700001200492700001100504245004900515300001100564490000800575520094500583022001401528       2008                            d  c2008 Aug10aAdult10aChild10aCommon Variable Immunodeficiency10aCrohn Disease10aEncephalitis, Herpes Simplex10aEpidermodysplasia Verruciformis10aFemale10aGenetic Predisposition to Disease10agenotype10aHumans10aImmunologic Deficiency Syndromes10aInterleukin-1 Receptor-Associated Kinases10aleprosy10aMale10aPhenotype10aReceptors, Interferon10aReceptors, Interleukin-1210afas Receptor1 aCasanova J1 aFieschi C1 aZhang S1 aAbel L00aRevisiting human primary immunodeficiencies.  a115-270 v2643 a<p>Human primary immunodeficiencies (PIDs) are often thought to be confined to a few rare, familial, monogenic, recessive traits impairing the development or function of one or several leucocyte subsets and resulting in multiple, recurrent, opportunistic and fatal infections in infancy. We highlight here the rapidly growing number of exceptions to each of these conventional qualifications. Indeed, bona fide PIDs include common and sporadic illnesses and may present as dominant, or even polygenic traits; their pathogenesis may involve non haematopoietic cells, and they may result in single episode of illness, with a single or multiple morbid phenotypes, some of which may involve infection, in otherwise healthy adults. We need to increase awareness of the multitude of clinical presentations of human PIDs considerably and rapidly in the medical community. Human PIDs should be considered in a wide range of clinical situations.</p>  a1365-2796