Genomes and Genes
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...
- Leucine-rich repeat containing 8A (LRRC8A) is essential for T lymphocyte development and functionLalit Kumar
Division of Immunology and 2 Joint Program in Transfusion Medicine, Division of Laboratory Medicine, Boston Children s Hospital and 3 Department of Pediatrics, 4 Department of Microbiology and Immunobiology, and 5 Department of Pathology, Harvard Medical School, Boston, MA 02115
J Exp Med 211:929-42. 2014..These findings reveal an essential role for LRRC8A in T cell development, survival, and function. ..
- Pediatric chronic nonbacterial osteomyelitisArturo Borzutzky
Program in Rheumatology, Division of Immunology, Children s Hospital Boston, Boston, Massachusetts 02115, USA
Pediatrics 130:e1190-7. 2012..We conducted a retrospective review to assess the clinical characteristics and treatment responses of a large cohort of pediatric CNO patients...
- 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...