Articles with "mhc deficiency" as a keyword



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MHC class II deficiency: Report of a novel mutation and special review.

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Published in 2018 at "Allergologia et immunopathologia"

DOI: 10.1016/j.aller.2017.04.006

Abstract: The MHC II deficiency is a rare autosomal recessive primary immunodeficiency syndrome with increased susceptibility to respiratory and gastrointestinal infections, failure to thrive and early mortality. This syndrome is caused by mutations in transcription regulators… read more here.

Keywords: novel mutation; mhc; report; mhc deficiency ... See more keywords
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A Novel RFXANK Mutation in a Chinese Child With MHC II Deficiency: Case Report and Literature Review

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Published in 2020 at "Open Forum Infectious Diseases"

DOI: 10.1093/ofid/ofaa314

Abstract: Abstract Major histocompatibility complex (MHC) II deficiency is a rare primary immunodeficiency disorder that is characterized by the deficiency of MHC class II molecules. The disease is caused by transcription factor mutations including class II… read more here.

Keywords: rfxank gene; deficiency; mutation; mhc deficiency ... See more keywords