TY - JOUR KW - Adult KW - Child KW - Common Variable Immunodeficiency KW - Crohn Disease KW - Encephalitis, Herpes Simplex KW - Epidermodysplasia Verruciformis KW - Female KW - Genetic Predisposition to Disease KW - genotype KW - Humans KW - Immunologic Deficiency Syndromes KW - Interleukin-1 Receptor-Associated Kinases KW - leprosy KW - Male KW - Phenotype KW - Receptors, Interferon KW - Receptors, Interleukin-12 KW - fas Receptor AU - Casanova J AU - Fieschi C AU - Zhang S AU - Abel L AB -

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.

BT - Journal of internal medicine C1 - http://www.ncbi.nlm.nih.gov/pubmed/18544117?dopt=Abstract DA - 2008 Aug DO - 10.1111/j.1365-2796.2008.01971.x IS - 2 J2 - J. Intern. Med. LA - eng N2 -

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.

PY - 2008 SP - 115 EP - 27 T2 - Journal of internal medicine TI - Revisiting human primary immunodeficiencies. VL - 264 SN - 1365-2796 ER -