Abstract
Case Our patient was a male of Dene native background from the Northwest Territories of Canada. Between the ages of 2 weeks to 6 months of age he had multiple bouts of both viral and bacterial pneumonia, two episodes of bacteremia, and showed poor growth. Despite a low lymphocyte count of 0.9 x 10 cells/L and undetectable immunoglobulins, an immunologist was not initially consulted. Finally, after his fifth episode of pneumonia he was referred to the Immunology Department in Edmonton and then transferred to the Alberta Children’s Hospital in Calgary. Initial testing revealed IgG levels t).
Highlights
Bare lymphocyte syndrome (BLS) is a rare, hereditary immunodeficiency characterized by the absence of major histocompatibility complex (MHC) class II leading to a form of severe combined immunodeficiency (SCID)
MHC class II expression was investigated looking for HLA-DR proteins by flow cytometry and were found to be absent
T-cell receptor excision circle (TREC) studies have begun to be used as part of newborn screening programs for SCID
Summary
Bare lymphocyte syndrome (BLS) is a rare, hereditary immunodeficiency characterized by the absence of major histocompatibility complex (MHC) class II leading to a form of severe combined immunodeficiency (SCID). Case Our patient was a male of Dene native background from the Northwest Territories of Canada. Between the ages of 2 weeks to 6 months of age he had multiple bouts of both viral and bacterial pneumonia, two episodes of bacteremia, and showed poor growth. Despite a low lymphocyte count of 0.9 x 109 cells/L and undetectable immunoglobulins, an immunologist was not initially consulted.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
