Autologous Stem Cell Transplantation in Common Variable Immunodeficiency: A Case of Successful Treatment of Severe Refractory Autoimmune Encephalitis

Abstract

Common variable immunodeficiency (CVID) is the most common primary immunodeficiency in adults. It is associated with hypogammaglobulinemia, recurring infections and autoimmune phenomena. Treatment includes immunoglobulin substitution and immunosuppressants. Autoimmune neurological manifestations of CVID are rare and occur predominantly as granulomatous disease. We report the case of a 35-year-old woman with CVID who developed autoimmune encephalitis as demonstrated by double cerebral biopsy. Infectious or malignant causes could be excluded. Despite intensive immunosuppressive therapy with common regimens no significant improvement could be achieved. Ultimately, an autologous hematopoietic stem cell transplantation (HSCT) was performed, resulting in lasting complete remission of the encephalitis. To our knowledge, this is the first report of refractory autoimmune phenomena in CVID treated by autologous HSCT.

Stem Cell Therapy in Neuroimmunological Diseases and Its Potential Neuroimmunological Complications

“…One patient suffering from autoimmune-mediated encephalitis was a 35 year old woman with concomitant common variable immunodeficiency (CVID), who revealed uncontrolled disease activity with new MRI lesions despite application of different immunomodulatory therapies comprising intravenous immunoglobulins (IVIG), prednisolone, azathioprine, rituximab, cyclophosphamide, and abatacept [ 99 ]. Due to the highly refractory disease course, a double cerebral biopsy was performed, and the histologic results were compatible with autoimmune-mediated encephalitis (MS and lymphoma were excluded) [ 99 ].…”

“…Four female patients with systemic lupus erythematosus (SLE, age 18–25 years, disease duration 2–9 years) also suffered from CNS affection [ 100 , 101 , 102 ]. Neurological manifestations included paresis/plegia, loss of vision, disturbance of speech, bladder and bowel dysfunction, headache, and hallucinations [ 99 , 100 , 101 , 102 ]. Results of neurological diagnostic work-up revealed longitudinal extensive transverse myelitis (LETM), optic neuritis, cerebral lesions, and infarction [ 100 , 101 , 102 ].…”

“…Autologous hematopoietic stem cells were mobilized with cyclophosphamide and G-CSF in all of these patients except one SLE patient who underwent bone marrow aspiration [ 100 , 101 , 102 ]. Conditioning regimens were cyclophosphamide + ATG ( n = 3), cyclophosphamide + total body irradiation ( n = 1), and etoposite + melphalan ( n = 1) [ 99 , 100 , 101 , 102 ]. Adverse events were reported in all patients, including infections, treatment-related toxicity, and transient worsening of neurological symptoms [ 99 , 100 , 101 , 102 ].…”

“…Conditioning regimens were cyclophosphamide + ATG ( n = 3), cyclophosphamide + total body irradiation ( n = 1), and etoposite + melphalan ( n = 1) [ 99 , 100 , 101 , 102 ]. Adverse events were reported in all patients, including infections, treatment-related toxicity, and transient worsening of neurological symptoms [ 99 , 100 , 101 , 102 ]. However, no deaths related to the treatment procedure were reported [ 99 , 100 , 101 , 102 ].…”

“…Adverse events were reported in all patients, including infections, treatment-related toxicity, and transient worsening of neurological symptoms [ 99 , 100 , 101 , 102 ]. However, no deaths related to the treatment procedure were reported [ 99 , 100 , 101 , 102 ]. During follow-up (6–45 months), the disease course of all patients was beneficially affected (partly with complete recovery) [ 99 , 100 , 101 , 102 ].…”