Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

Highlights ▶ Autosomal recessive complete loss-of-function STAT1 deficiency predisposes to mycobacterial and viral diseases. ▶ Autosomal recessive partial loss-of-function STAT1 deficiency predisposes to mild mycobacterial and viral diseases. ▶ Autosomal dominant loss-of-function STAT1 deficiency pr...

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Bibliographic Details
Published in:Current opinion in immunology 2012-08, Vol.24 (4), p.364-378
Main Authors: Boisson-Dupuis, Stephanie, Kong, Xiao-Fei, Okada, Satoshi, Cypowyj, Sophie, Puel, Anne, Abel, Laurent, Casanova, Jean-Laurent
Format: Article
Language:English
Subjects:
Alleles
Allergy and Immunology
Genetic Predisposition to Disease
Humans
Metabolism, Inborn Errors - genetics
Mycobacterium Infections - genetics
Phenotype
STAT1 Transcription Factor - genetics
Virus Diseases - genetics
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Summary:Highlights ▶ Autosomal recessive complete loss-of-function STAT1 deficiency predisposes to mycobacterial and viral diseases. ▶ Autosomal recessive partial loss-of-function STAT1 deficiency predisposes to mild mycobacterial and viral diseases. ▶ Autosomal dominant loss-of-function STAT1 deficiency predisposes to mycobacterial disease. ▶ Autosomal dominant gain-of-function STAT1 disorder predisposes to chronic mucocutaneous disease.
ISSN:0952-7915
1879-0372
1879-0372
DOI:10.1016/j.coi.2012.04.011