Central Nervous System Involvement in Common Variable Immunodeficiency: A Case of Acute Unilateral Optic Neuritis in a 26-Year-Old Italian Patient

Abstract

Common Variable Immunodeficiency (CVID) is a group of heterogeneous primary immunodeficiencies sharing defective B lymphocytes maturation and dysregulated immune response and resulting in impaired immunoglobulin production. Clinical picture encompasses increased susceptibility to infections, hematologic malignancies, inflammatory, and autoimmune diseases. Neurological manifestations are uncommon and optic neuritis has been previously reported only in one case with bilateral involvement. We hereby report a case of a 26-year-old man affected by CVID undergoing regular immunoglobulin supplementation, who presented with acute unilateral demyelinating optic neuritis and lymphocytic pleocytosis in the cerebrospinal fluid. A variety of infectious, inflammatory, and neoplastic conditions were excluded and a diagnosis of clinically isolated optic neuritis was made. The patient was treated with a short course of intravenous steroids with complete recovery. Overall, this case expands our current knowledge about clinical spectrum of complications in CVID and highlights the need for further research about this complex disease.

Common variable immunodeficiency with granulomatous-lymphocytic interstitial lung disease and preceding neurological involvement: a case-report

“…In this case, infection, primary malignancy and cerebral lymphoma were excluded following review of CSF and brain biopsy specimens. This patient’s CVID-associated neurological disease also responded well to immunosuppressive therapy, which is consistent with the findings of a previously published case report [ 13 ].…”

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

“…Among the described cases in the literature (Table 1), infections are the main cause of CVID-associated neurological dysfunction, particularly meningitis and encephalitis [4,9]. Autoimmune/in ammatory conditions comprise the second largest category of neurologic complications (1.4% of CVID patients) [4,5], including myelitis [5,[9][10][11][12], brain in ammatory/demyelinating disease [4,5,7,13], unilateral [2,5] and bilateral [14] optic neuritis, cerebral vasculitis [5], and encephalopathy (autoimmune encephalitis [5] and acute encephalomyelitis [15]). Van de Ven et al [16] reported a 4% prevalence of in ammatory CNS disease, higher than previously reported.…”

“…Van de Ven et al [16] reported a 4% prevalence of in ammatory CNS disease, higher than previously reported. Of the studies reporting in ammatory lesions, the majority are case reports [2,4,7,[9][10][11][12][13][14][15]; there are few observational studies [5,[16][17][18]. Although some of these studies report a higher frequency of neurological CVID manifestations in females [9,17], in others [16], age and gender distribution were comparable between CVID controls without CNS manifestations and CNS disease patients (mean age 46.6y ±15 in controls vs. 44.1y ±11.0 in CNS disease).…”

“…Common variable immunode ciency disorders (CVID) are the most clinically signi cant primary immunode ciency in adults, accounting for 90% of symptomatic primary antibody de ciencies [1]. They are characterized by low levels of serum immunoglobulin (Ig) G with IgA and/or IgM de cit due to a primary antibody failure [2]. Current estimates suggest a prevalence ranging from 1:25,000 to 1:100,000 in Caucasian individuals [1,3]; recently, a Finnish study suggested a higher prevalence of 6.9:100,000 [3].…”

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

“…In addition to infectious complications, autoimmune manifestations, including immune cytopenias, pneumonia, inflammatory bowel disease, and granulomatous inflammation, occur in about 20% of cases ( 3 ). Central nervous system (CNS) involvement is rare in CVID; most data are found for cerebral granulomatous disease ( 4 ), one case reported unilateral optic neuritis ( 5 ). Management of CVID includes immunoglobulin replacement (IgRT), immunosuppressive therapy for autoimmune manifestations, and close surveillance for the development of additional comorbidities ( 2 ).…”