title: Coenzyme Q10 and immunity: A case report and new implications for treatment of recurrent infections in metabolic diseases.
abstract: Coenzyme Q10 (CoQ10) deficiency can manifest diversely, from isolated myopathy to multisystem involvement. Immune dysregulation has not been reported as a feature of the disease. We report a four-year old girl with failure to thrive, recurrent infections, developmental delay with hypotonia, and CoQ10 deficiency with impaired immune function, which improved after CoQ10 and immunoglobulin replacement therapy. Immune dysfunction in CoQ10 deficiency should be considered and treated appropriately.
authors.affiliation: Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA. Electronic address: sfarough@bwh.harvard.edu.
authors.forename: S
authors.initials: S
authors.lastname: Farough
authors.affiliation: Department of Genetics, Brigham and Women's Hospital, Children's Hospital, Boston, MA, USA.
authors.forename: A
authors.initials: A
authors.lastname: Karaa
authors.affiliation: Department of Pediatric Neurology, Massachusetts General Hospital, Boston, MA, USA.
authors.forename: M A
authors.initials: MA
authors.lastname: Walker
authors.affiliation: Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
authors.forename: N
authors.initials: N
authors.lastname: Slate
authors.affiliation: Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.
authors.forename: T
authors.initials: T
authors.lastname: Dasu
authors.affiliation: Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.
authors.forename: J
authors.initials: J
authors.lastname: Verbsky
authors.affiliation: Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
authors.forename: R
authors.initials: R
authors.lastname: Fusunyan
authors.affiliation: Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
authors.forename: C
authors.initials: C
authors.lastname: Canapari
authors.affiliation: Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
authors.forename: T B
authors.initials: TB
authors.lastname: Kinane
authors.affiliation: Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
authors.forename: J
authors.initials: J
authors.lastname: Van Cleave
authors.affiliation: Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
authors.forename: D A
authors.initials: DA
authors.lastname: Sweetser
authors.affiliation: Department of Pediatric Neurology, Massachusetts General Hospital, Boston, MA, USA.
authors.forename: K B
authors.initials: KB
authors.lastname: Sims
authors.affiliation: Pediatric Immunodeficiency Program, Massachusetts General Hospital for Children, Boston, USA. Electronic address: jewalter@mgh.harvard.edu.
authors.forename: J E
authors.initials: JE
authors.lastname: Walter
mesh_terms: D001259:Ataxia / Q000175:diagnosis / Q000188:drug therapy / Q000276:immunology* / Q000378:metabolism*; D002675:Child, Preschool; D056947:Enzyme Replacement Therapy; D005260:Female; D006801:Humans; D007109:Immunity / Q000502:physiology*; D007074:Immunoglobulin G / Q000097:blood / Q000276:immunology; D016131:Lymphocyte Subsets / Q000276:immunology / Q000378:metabolism; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000276:immunology* / Q000378:metabolism*; D018908:Muscle Weakness / Q000175:diagnosis / Q000188:drug therapy / Q000276:immunology* / Q000378:metabolism*; D016896:Treatment Outcome; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000172:deficiency* / Q000276:immunology / Q000378:metabolism / Q000627:therapeutic use
chemical_list: D007074:Immunoglobulin G; D014451:Ubiquinone; C024989:coenzyme Q10
keywords: Coenzyme Q(10;); Immune deficiency; Mitochondria;; Recurrent infections;