A case of common variable immunodeficiency presenting with furunculosis

Area of Science:

• Immunology
• Genetics
• Dermatology

Background:

• Common variable immunodeficiency (CVID) is the most frequent primary immunodeficiency, characterized by low immunoglobulin levels (IgG, IgA, and sometimes IgM).
• Genetic factors contribute, with 20% of cases showing dominant inheritance, leading to a heterogeneous disorder with diverse clinical manifestations.
• Diagnosis is often delayed, resulting in irreversible organ damage, particularly bronchiectasis, despite effective immunoglobulin replacement therapy.

Observation:

• CVID is a multisystem disorder presenting with recurrent sinopulmonary infections, but also affecting other systems.
• Clinical features include gastrointestinal issues, granulomatous inflammation, cutaneous manifestations, and increased susceptibility to infections, autoimmunity, and malignancies like lymphoma and stomach cancer.
• A case of CVID was identified in a dermatology clinic due to widespread skin infection, fever, and malaise.

Findings:

• The case highlights that CVID can manifest with dermatological symptoms, necessitating high clinical suspicion.
• Early recognition of CVID is imperative for timely intervention and preventing long-term complications.
• The underlying mechanisms of CVID's immunodeficiency remain incompletely understood.

Implications:

• Dermatologists and other clinicians must maintain a high index of suspicion for CVID, even with unusual presentations.
• Prompt investigation and diagnosis of CVID can lead to effective treatment with immunoglobulin infusions.
• Increased awareness and a lower threshold for relevant investigations are crucial for early CVID diagnosis and management.