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Severe Combined Immunodeficiency Resulting From Mutations in <i>MTHFD1</i>

8 Jan 2013

Abstract excerpt

Folate and vitamin B(12) metabolism are essential for de novo purine synthesis, and several defects in these pathways have been associated with immunodeficiency. Here we describe the occurrence of severe combined immunodeficiency (SCID) with megaloblastic anemia, leukopenia, atypical hemolytic uremic syndrome, and neurologic abnormalities in which hydroxocobalamin and folate therapy provided partial immune...

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Identifiers

PMID: 23296427
DOI: 10.1542/peds.2012-0899

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