title: Inborn errors of metabolism underlying primary immunodeficiencies.
abstract: A number of inborn errors of metabolism (IEM) have been shown to result in predominantly immunologic phenotypes, manifesting in part as inborn errors of immunity. These phenotypes are mostly caused by defects that affect the (i) quality or quantity of essential structural building blocks (e.g., nucleic acids, and amino acids), (ii) cellular energy economy (e.g., glucose metabolism), (iii) post-translational protein modification (e.g., glycosylation) or (iv) mitochondrial function. Presenting as multisystemic defects, they also affect innate or adaptive immunity, or both, and display various types of immune dysregulation. Specific and potentially curative therapies are available for some of these diseases, whereas targeted treatments capable of inducing clinical remission are available for others. We will herein review the pathogenesis, diagnosis, and treatment of primary immunodeficiencies (PIDs) due to underlying metabolic disorders.
authors.affiliation: Research Center for Immunodeficiencies, Tehran University of Medical Sciences, Tehran, Iran, nparvaneh@tums.ac.ir.
authors.forename: Nima
authors.initials: N
authors.lastname: Parvaneh
authors.forename: Pierre
authors.initials: P
authors.lastname: Quartier
authors.forename: Parastoo
authors.initials: P
authors.lastname: Rostami
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Pascale
authors.initials: P
authors.lastname: de Lonlay
mesh_terms: D004734:Energy Metabolism / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007109:Immunity / Q000235:genetics; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D008928:Mitochondria / Q000378:metabolism*; D058990:Molecular Targeted Therapy; D011499:Protein Processing, Post-Translational / Q000235:genetics
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