title: Subacute demyelinating polyradiculoneuropathy complicating Epstein-Barr virus infection in GATA2 haploinsufficiency.
abstract: BACKGROUND
  Autosomal dominant haploinsufficiency of GATA2 causes monocytopenia and natural killer cell lymphopenia, resulting in predisposition to mycobacterial, fungal, and viral infections.
  
  
  METHODS
  Herein we report on the clinical, serologic, electrophysiologic, and pathologic evaluations of a 29-year-old woman with GATA2 haploinsufficiency and active Epstein-Barr virus (EBV) infection complicated by subacute painful neuropathy.
  
  
  RESULTS
  Nerve conduction and electromyography studies showed predominantly demyelinating sensorimotor polyradiculoneuropathy. Lumbar spine MRI showed thickening and enhancement of the cauda equina nerve roots. Serum and cerebrospinal fluid anti-IgG and IgM EBV capsid and nucleic acid antibodies were positive. Sural nerve biopsy showed microvasculitis and an increased frequency of fibers with segmental demyelination. Intravenous immunoglobulin and steroids improved the patient's neuropathy.
  
  
  CONCLUSIONS
  GATA2 mutation-related immunodeficiency may predispose to EBV-associated subacute demyelinating polyradiculoneuropathy by both viral susceptibility and immune dysregulation. In patients who present in this manner, immunodeficiency syndromes should be considered when lymphomatous infiltration is excluded. Immunotherapy can be helpful. Muscle Nerve 57: 150-156, 2018.
authors.affiliation: Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Kazamel
authors.affiliation: Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA.
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Klein
authors.affiliation: Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA.
authors.forename: Eduardo E
authors.initials: EE
authors.lastname: Benarroch
authors.affiliation: Department of Hematology, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Mrinal M
authors.initials: MM
authors.lastname: Patnaik
authors.affiliation: Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA.
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Tracy
mesh_terms: D000328:Adult; D000888:Antibodies, Anti-Idiotypic; D020274:Autoimmune Diseases of the Nervous System / Q000473:pathology; D001706:Biopsy; D004576:Electromyography; D020031:Epstein-Barr Virus Infections / Q000150:complications* / Q000000981:diagnostic imaging; D005260:Female; D050989:GATA2 Transcription Factor / Q000235:genetics*; D057895:Haploinsufficiency / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes; D008279:Magnetic Resonance Imaging; D009431:Neural Conduction; D009460:Neurologic Examination; D011129:Polyradiculoneuropathy / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D013497:Sural Nerve / Q000473:pathology
chemical_list: D000888:Antibodies, Anti-Idiotypic; D050989:GATA2 Transcription Factor; C494711:GATA2 protein, human; C048844:anti-IgG
keywords: Epstein-Barr virus; GATA2; demyelinating; microvasculitis; myelodysplastic syndrome; polyradiculoneuropathy