Common variable immunodeficiency and its inflammatory neurological manifestations: A case report and literature review

Autores da FMUP

• Maria João De Castro Santos Pinto

  Autor

• Andreia Filipa Gomes Da Costa

  Autor

• André Da Silva Marques Pinto

  Autor

• Joana Da Cruz Guimarães Ferreira De Almeida

  Autor

Participantes de fora da FMUP

• Martins, Barbara
• Miranda, Joana
• Melo, Natalia
• Ceia, Filipa
• Costa, Jose Torres

Unidades de investigação

• Medicina

• Neurociências Clínicas e Saúde Mental

Abstract

Background: Common variable immunodeficiency disorders (CVID) are a group of primary immunodeficiencies characterized by impaired immunoglobulin production and dysregulated immune response. Neurological man-ifestations have been described in a few patients, and little is known about its clinic and therapeutic approach. Thus, this work aimed to review the literature on it and to help differentiate CVID from its mimics, especially sarcoidosis. Methods: We described a case report and included a literature review of inflammatory neurological involvement in CVID.Results: A 32-year-old female patient with a medical history of recurrent bacterial infections, temporal focal epilepsy and granulomatous lung disease under study, and cervix squamous cell carcinoma, was initially admitted to the emergency department due to intracranial hypertension. After excluding infectious and neoplastic etiologies, the most likely hypothesis was that granulomatous pulmonary, cerebral, and lep-tomeningeal inflammatory involvement were associated with sarcoidosis. Two years later, a diagnosis of CVID was made, and the patient was secondarily diagnosed with Granulomatous and Lymphocytic Interstitial Lung Disease (GLILD) and related inflammatory brain disease - both complications of CVID. After starting targeted treatment with immunoglobulin replacement and pulse glucocorticoids followed by a chronic taper, the patient became stable. However, three consecutive failures in immunoglobulin intake during the COVID-19 pandemic led to disease recurrence with relapse of neurological manifestations.Conclusion: This case illustrates the complex multiple organ manifestations of CVID. When granulomatous conditions arise in these patients, a rare lung disease arising in the context of CVID, the GLILD disease with multisystem involvement, should be taken into consideration. Early treatment with combined steroids and immunotherapy seems to be effective in controlling CVID's neurological manifestations.

Keywords

• Common variable immunodeficiency; Neurological disease; Autoimmunity; Granulomatous-lymphocytic interstitial lung; disease