title: Neurologic sequela in a patient with galactosemia potentially mediated by interleukin-11 dysfunction.
abstract: A 16-year-old galactosemic patient, homozygous for the 5.5-kb gene deletion, suffered severe neurologic regression following streptococcal infection. Since the gene deletion includes the promoter of interleukin-11a receptor involved in neuronal apoptosis, we questioned whether this patient had no interleukin-11a receptor activity-resulting in neuronal toxicity during septicemia. We hypothesized that interleukin-11 levels would be elevated because of a loss of feedback induced by the absent interleukin-11Ra receptor complex. To assess this, we compared interleukin-11 levels in the proband and 2 of his siblings with the same genetic deletion, to age-matched controls. No differences were found in interleukin-11 levels between groups. Our study was not carried out during acute infective states, when the disrupted immunoregulation triggered by sepsis is relevant, and is thus limited. In conclusion, although interleukin-11 was not chronically elevated in individuals with galactosemia and 5.5-kb gene deletion, data do not rule out potential interleukin-11 dysfunction during acute infection.
authors.affiliation: Pediatric Movement Disorders, Neuropediatric Unit, Shaare Zedek Medical Center, Jerusalem, Israel gidswinter@gmail.com.
authors.forename: Gidon N
authors.initials: GN
authors.lastname: Winter
authors.affiliation: Pediatric Movement Disorders, Neuropediatric Unit, Shaare Zedek Medical Center, Jerusalem, Israel.
authors.forename: Hilla
authors.initials: H
authors.lastname: Ben-Pazi
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D004569:Electroencephalography; D005693:Galactosemias / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D017370:Interleukin-11 / Q000097:blood*; D053703:Interleukin-11 Receptor alpha Subunit / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D011401:Promoter Regions, Genetic; D012640:Seizures / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D035781:Siblings; D014057:Tomography, X-Ray Computed; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics
chemical_list: C508611:IL11 protein, human; C508428:IL11RA protein, human; D017370:Interleukin-11; D053703:Interleukin-11 Receptor alpha Subunit; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase
keywords: apoptosis; immune; infection