[Atypical presentation of common variable immunodeficiency without infections]

Area of Science:

• Immunology
• Clinical Medicine

Background:

• Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by hypogammaglobulinemia and impaired antibody responses.
• Recurrent bacterial infections are typical, but autoimmune diseases and neoplasms are common comorbidities.
• Diagnosis is often delayed, particularly in adults, with a frequent lag in identifying the underlying antibody defect.

Observation:

• This study examined 30 CVID patients, identifying 5 (16.6%) with non-infectious initial presentations.
• Manifestations included immune cytopenias (thrombocytopenic purpura, hemolytic anemia), pernicious anemia, and insulin-dependent diabetes.
• Four patients exhibited IgG levels below 400 mg/dl at diagnosis.

Findings:

• Atypical presentations of CVID, particularly autoimmune disorders, can occur in the absence of recurrent infections.
• Immune cytopenias and autoimmune conditions like pernicious anemia and diabetes were observed as initial clinical features.
• Low IgG levels (<400 mg/dl) were noted in a subset of patients with non-infectious CVID.

Implications:

• Recognizing atypical CVID presentations is crucial to avoid diagnostic delays.
• Baseline immunoglobulin level testing is recommended for patients presenting with autoimmune disorders, even without a history of infections.
• This approach may improve early detection and management of CVID.