A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation—A case report and review of the literature

Author:

Burns Charlotte,Cheung Abigail,Stark ZornitzaORCID,Choo Sharon,Downie Lilian,White Sue,Conyers Rachel,Cole Theresa

Publisher

Elsevier BV

Subject

Immunology and Allergy

Reference8 articles.

1. Impaired response to interferon-α/β and lethal viral disease in human STAT1 deficiency;Dupuis;Nat Genet,2003

2. Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo;Chapgier;J Immunol,2006

3. Severe impairment of IFN-γ and IFN-α responses in cells of a patient with a novel STAT1 splicing mutation;Vairo;Immunobiology,2011

4. Nontuberculous mycobacterial infections in children with inborn errors of the immune system;Haverkamp;J Infect,2013

5. Leiden Open Variation Database. Mendelian genes. Available from: https://grenada.lumc.nl/LOVD2/mendelian_genes/pubmed_references.php. Accessed October 1, 2015.

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