title: Progressive neurodegenerative syndrome in a patient with X-linked agammaglobulinemia receiving intravenous immunoglobulin therapy.
abstract: A progressive encephalopathy of unknown etiology has been described in patients with primary immunodeficiency disorders. In this report, we characterize the clinical features of this progressive neurodegenerative dementing disorder in a young man with Bruton agammaglobulinemia, through neuropsychological tests and a video sequence. The clinical course of the encephalopathy seems rather uniform: Cognition, especially frontal lobe function, is affected in the early stages, and some patients develop movement disorders. The syndrome causes severe cognitive and physical disability, and can eventually be fatal. The autoimmunity results from dysregulated immune responses, but the underlying mechanism has not yet been fully explained.
authors.affiliation: *Institute of Neurological Sciences and Psychiatry †Department of Neurology, Hacettepe University, Ankara, Turkey ‡Department of Pediatrics, Immunology-Allergy, Akdeniz University, Faculty of Medicine, Antalya, Turkey §Department of Immunology, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
authors.forename: Aslihan Taskiran
authors.initials: AT
authors.lastname: Sag
authors.forename: Esen
authors.initials: E
authors.lastname: Saka
authors.forename: Tuba Turul
authors.initials: TT
authors.lastname: Ozgur
authors.forename: Ozden
authors.initials: O
authors.lastname: Sanal
authors.forename: Deniz Cagdas
authors.initials: DC
authors.lastname: Ayvaz
authors.forename: Bulent
authors.initials: B
authors.lastname: Elibol
authors.forename: Asli Tuncer
authors.initials: AT
authors.lastname: Kurne
mesh_terms: D000361:Agammaglobulinemia / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology / Q000503:physiopathology / Q000523:psychology; D001284:Atrophy; D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D003072:Cognition Disorders / Q000209:etiology* / Q000235:genetics / Q000276:immunology; D003937:Diagnosis, Differential; D018450:Disease Progression; D005625:Frontal Lobe / Q000473:pathology; D040181:Genetic Diseases, X-Linked / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology / Q000503:physiopathology / Q000523:psychology; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000008:administration & dosage* / Q000009:adverse effects; D008279:Magnetic Resonance Imaging; D008297:Male; D009069:Movement Disorders / Q000209:etiology* / Q000235:genetics / Q000276:immunology; D019636:Neurodegenerative Diseases / Q000209:etiology; D009483:Neuropsychological Tests; D055815:Young Adult
chemical_list: D016756:Immunoglobulins, Intravenous