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Severe infectious diseases of childhood as monogenic inborn errors of immunity

Casanova, Jean-Laurent

Proceedings of the National Academy of Sciences - PNAS, 2015-12, Vol.112 (51), p.E7128-E7137 [Periódico revisado por pares]

United States: National Academy of Sciences

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Título:
Severe infectious diseases of childhood as monogenic inborn errors of immunity
Autor: Casanova, Jean-Laurent
Assuntos: Adolescent ; Biological Sciences ; Candidiasis, Chronic Mucocutaneous - genetics ; Candidiasis, Chronic Mucocutaneous - immunology ; Child ; Complement System Proteins - genetics ; Encephalitis, Herpes Simplex - genetics ; Encephalitis, Herpes Simplex - immunology ; Epidermodysplasia Verruciformis - genetics ; Epidermodysplasia Verruciformis - immunology ; Genetic Diseases, Inborn - genetics ; Genetic Diseases, Inborn - immunology ; Genetic Predisposition to Disease ; Genetics ; Genotype & phenotype ; Humans ; Immunologic Deficiency Syndromes - genetics ; Immunologic Deficiency Syndromes - immunology ; Infections - genetics ; Infections - immunology ; Infectious diseases ; Influenza, Human - genetics ; Influenza, Human - immunology ; Interferon-gamma - genetics ; Interferon-gamma - immunology ; Lymphoproliferative Disorders - genetics ; Lymphoproliferative Disorders - immunology ; Malaria - genetics ; Malaria - immunology ; Models, Genetic ; Models, Immunological ; Mycobacterium Infections - genetics ; Mycobacterium Infections - immunology ; Neisseria - immunology ; Neisseria - pathogenicity ; PNAS Plus ; Pneumococcal Infections - genetics ; Pneumococcal Infections - immunology ; Tinea - genetics ; Tinea - immunology ; Young Adult
É parte de: Proceedings of the National Academy of Sciences - PNAS, 2015-12, Vol.112 (51), p.E7128-E7137
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Reviewers: M.D.C., Emory University; and R.A.G., University of California, Los Angeles.
Contributed by Jean-Laurent Casanova, November 3, 2015 (sent for review September 15, 2015; reviewed by Max D. Cooper and Richard A. Gatti)
Author contributions: J.-L.C. designed research, performed research, analyzed data, and wrote the paper.
Descrição: This paper reviews the developments that have occurred in the field of human genetics of infectious diseases from the second half of the 20th century onward. In particular, it stresses and explains the importance of the recently described monogenic inborn errors of immunity underlying resistance or susceptibility to specific infections. The monogenic component of the genetic theory provides a plausible explanation for the occurrence of severe infectious diseases during primary infection. Over the last 20 y, increasing numbers of life-threatening infectious diseases striking otherwise healthy children, adolescents, and even young adults have been attributed to single-gene inborn errors of immunity. These studies were inspired by seminal but neglected findings in plant and animal infections. Infectious diseases typically manifest as sporadic traits because human genotypes often display incomplete penetrance (most genetically predisposed individuals remain healthy) and variable expressivity (different infections can be allelic at the same locus). Infectious diseases of childhood, once thought to be archetypal environmental diseases, actually may be among the most genetically determined conditions of mankind. This nascent and testable notion has interesting medical and biological implications.
Editor: United States: National Academy of Sciences
Idioma: Inglês

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Severe infectious diseases of childhood as monogenic inborn errors of immunity

Casanova, Jean-Laurent

United States: National Academy of Sciences

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