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Published in 2017 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-017-0391-9
Abstract: To the Editor Population-based screening of newborns can effectively identify infants with genetic defects of the immune system leading to severe combined immunodeficiency (SCID) [1]. Early diagnosis of SCID prompts intervention before life-threatening infections and…
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Keywords:
linked moesin;
first case;
scid;
identified newborn ... See more keywords
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Published in 2021 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2021.726406
Abstract: X-linked moesin associated immunodeficiency (X-MAID) is a primary immunodeficiency disease in which patients suffer from profound lymphopenia leading to recurrent infections. The disease is caused by a single point mutation leading to a R171W amino…
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Keywords:
moesin associated;
model;
immunodeficiency;
immunodeficiency maid ... See more keywords