Affiliation: Harvard University
- A girl with severe hand swelling and abdominal crampsArturo Borzutzky
Division of Immunology, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
Clin Chem 54:1733-6; discussion 1736-7. 2008
- NOD2-associated diseases: Bridging innate immunity and autoinflammationArturo Borzutzky
Children s Hospital Boston, MA 02115, USA
Clin Immunol 134:251-61. 2010..The patient had a susceptibility polymorphism of NOD2 previously described in CD, but not in BS or EOS. We discuss the complex role of NOD2 in innate immunity to microbes and the clinical consequences of disturbances in this system...
- Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporterArturo Borzutzky
Division of Immunology, Children s Hospital Boston, Boston, MA, USA
Clin Immunol 133:287-94. 2009..PCFT mutations should be considered in infants with SCID-like phenotype, as the immunodeficiency is reversible with parenteral folinic acid repletion...
- DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activationHaifa H Jabara
Division of Immunology, Children s Hospital and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA
Nat Immunol 13:612-20. 2012..Thus, DOCK8 functions as an adaptor in a TLR9-MyD88 signaling pathway in B cells...