Revisiting human primary immunodeficiencies.
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.
Casanova
Jean-Laurent
JL
Laboratory of Human Genetics of Infectious Diseases, Institut National de la Santé et de la Recherche Médicale, Paris, France. casanova@necker.fr
Fieschi
Claire
C
Zhang
Shen-Ying
SY
Abel
Laurent
L
D000328:Adult; D002648:Child; D017074:Common Variable Immunodeficiency / Q000453:epidemiology / Q000235:genetics; D003424:Crohn Disease / Q000235:genetics; D020803:Encephalitis, Herpes Simplex / Q000235:genetics; D004819:Epidermodysplasia Verruciformis / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000453:epidemiology / Q000235:genetics*; D053592:Interleukin-1 Receptor-Associated Kinases / Q000172:deficiency / Q000235:genetics; D007918:Leprosy / Q000235:genetics; D008297:Male; D010641:Phenotype; D017471:Receptors, Interferon / Q000172:deficiency / Q000235:genetics; D053707:Receptors, Interleukin-12 / Q000172:deficiency / Q000235:genetics; D019014:fas Receptor / Q000235:genetics; D000096743:Interferon gamma Receptor
D053592:Interleukin-1 Receptor-Associated Kinases; D017471:Receptors, Interferon; D053707:Receptors, Interleukin-12; D019014:fas Receptor; D000096743:Interferon gamma Receptor; C491901:FAS protein, human; C507773:IRAK4 protein, human