Autoimmune Hemolytic Anemia and Spontaneous Pneumothorax as Initial Manifestations of Common Variable Immunodeficiency Complicated with Granulomatous–Lymphocytic Interstitial Lung Disease

Abstract

Common variable immunodeficiency (CVID) is the most common antibody deficiency in adults and is frequently associated with autoimmune conditions. One such condition is autoimmune hemolytic anemia (AIHA), an acquired blood disorder that can be the initial manifestation of CVID. Additionally, patients may develop granulomatous and lymphoproliferative lung disease (GLILD), a serious complication that worsens prognosis and requires early recognition. We describe a 25-year-old man with AIHA who had a severe hemolytic crisis and persistent anemia despite optimal immunomodulatory therapy. Infectious diseases, other autoimmune disorders and neoplasms were ruled out. In further studies, marked hypogammaglobulinemia of IgG, IgA, IgM and IgE was documented, confirming the diagnosis of CVID as the underlying cause of his refractory AIHA. During hospitalization, the patient developed a spontaneous pneumothorax with associated pulmonary micronodules, raising a strong suspicion of GLILD. This case illustrates that CVID may initially present as apparently isolated AIHA and remain unrecognized until serious complications emerge. Measurement of serum immunoglobulin levels should be considered in patients with atypical or treatment-refractory AIHA, recurrent infections, or accompanying lymphoproliferative features, as early recognition of CVID enables timely IVIG replacement and monitoring for associated complications.