Brainstem Infarction in Immunodeficiency Identified as Adenosine Deaminase 2 Deficiency: Case Report

J Clin Immunol. 2023 Oct;43(7):1597-1602. doi: 10.1007/s10875-023-01526-3. Epub 2023 Jun 12.


Purpose: We present the case of a 24-year-old male with CNS granulomatosis due to an immunodeficiency syndrome which was identified as deficiency of adenosine deaminase 2 (DADA2) as a cause of brainstem infarction.

Methods: Case report and detailed description of the clinical course of diagnosis and treatment.

Case: The patient's medical history consisted of an unknown immunodeficiency syndrome. Based on former findings, common variable immunodeficiency (CVID) was diagnosed. The patient suffered from three consecutive brainstem strokes of unknown etiology within 3 years. An MRI scan detected gadolinium-enhancing, granulomatous-suspect lesions in the interpeduncular cistern, temporal lobe, and tegmentum. Laboratory analysis was compatible with CVID, with leukopenia and immunoglobulin deficiency. Because granulomatous CNS inflammation was suspected, the patient received methylprednisolone immunosuppressive therapy, which led to partially regressive MRI lesions. However, in contrast to imaging, the patient showed a progressive cerebellar syndrome, indicating plasma exchange therapy and immunoglobulin treatment, which led to rapid symptom amelioration. After a relapse and a further stroke, expanded analysis confirmed DADA2 (and not CVID) as the inflammatory cause for recurrent stroke. After starting the therapy with immunoglobulins and adalimumab, no further strokes occurred.

Conclusion: We present the case of a young adult with diagnosis of DADA2 as a cause for recurrent strokes due to vasculitis. This stroke etiology is rare but should be considered as a cause of recurrent stroke of unknown origin in young patients to avoid a disabling disease course by disease-specific treatment options.

Keywords: Ataxia; CVID; DADA2; Immunoglobulins; Immunosuppression; Stroke.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Deaminase
  • Adult
  • Brain Stem Infarctions*
  • Common Variable Immunodeficiency*
  • Humans
  • Immunoglobulins
  • Immunologic Deficiency Syndromes*
  • Intercellular Signaling Peptides and Proteins
  • Male
  • Stroke*
  • Young Adult


  • Adenosine Deaminase
  • Intercellular Signaling Peptides and Proteins
  • Immunoglobulins

Supplementary concepts

  • deficiency of adenosine deaminase 2
  • Severe combined immunodeficiency due to adenosine deaminase deficiency