Case report: Use of granulocyte-colony stimulating factor as an immunomodulatory therapy in a patient with neuromyelitis optica spectrum disorder and comorbid immunodeficiency

Gina S. Perez Giraldo*, Edith L. Graham, Stephen VanHaerents, Roumen Balabanov

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Autoimmune diseases can coexist with immunodeficiency. We describe a treatment approach in which granulocyte-colony stimulating factor (G-CSF) is used to restore immune competence without worsening autoimmunity. G-CSF is a polyfunctional cytokine that influences survival, proliferation, and differentiation of hematopoietic stem cells, and has immunomodulatory effects on the innate and adaptive immune systems. Objective: To report a case of neuromyelitis optica spectrum disorder (NMOSD) with comorbid immunodeficiency and frequent infections. Methods: Case report and review of literature. Results: A 23 years-old man presented with a focal onset seizure with impaired awareness at age 12. At age 18, he developed headaches, recurrent multifocal seizures, and non-convulsive status epilepticus. Brain magnetic resonance imaging (MRI) showed extensive T2 hyperintense and gadolinium-enhancing periventricular and corpus callosum lesions. Serum aquaporin 4 antibody was positive 1:10,000 (normal value <1.5 titer), hence he was diagnosed with NMOSD. As a complication, patient developed mucormycotic pneumonia with cavitation, requiring thoracotomy precluding use of immunosuppressants. Gene testing demonstrated a mutation in MT-ND4 gene encoding for NADH dehydrogenase 4 in mitochondrial complex 1. Eventually, he began a treatment with filgrastim, a G-CSF analog, in addition to intravenous immunoglobulins and prednisone. Patient’s NMOSD has been in remission without relapses, or coexistent infections ever since. Conclusion: G-CSF is a polyfunctional cytokine with important immunomodulatory effects, which makes it an interesting therapeutic option when autoimmunity coexists with immunodeficiency and was used successfully in this case.

Original languageEnglish (US)
Article number1240356
JournalFrontiers in Neurology
Volume14
DOIs
StatePublished - 2023

Funding

GP’s fellowship was funded by the National Multiple Sclerosis Society.

Keywords

  • autoimmunity
  • granulocyte-colony stimulating factor
  • immunodeficiency
  • immunomodulation
  • neuromyelitis optica spectrum disorder

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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