Common variable immunodeficiency in a six-year-old boy with sarcoidosis

Abstract

Introduction Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder characterized by hypogammaglobulinemia and recurrent infections. Sarcoidosis, a multi-system granulomatous disease, could co-exist with CVID as documented in adult case reports. The association is still unclear. Immunologic defect and abnormal host response are possible explanations. Patients with CVID and sarcoidosis present with hypogammaglobulinemia rather than hypergammaglobulinemia as seen in sarcoidosis alone. Review of literature showed a paucity of case reports in children. We describe a six-year-old child who had a diagnosis of sarcoidosis with eventual diagnosis of CVID. Case report A six-year-old boy presented at age five with dyspnea, fever, rash, and inguinal lymphadenopathy. He had splenomegaly, anemia and thrombocytopenia. Mediastinal lymph node biopsy demonstrating noncaseating granuloma and an elevated serum angiotensin converting enzyme level of 181U/L (normal 14-70) led to the diagnosis of sarcoidosis. He was treated with systemic corticosteroids. Since infancy, he presented with persistent cough, nasal congestion, recurrent otitis media and sinusitis. At age six, he was hospitalized for pneumonia unresponsive to multiple courses of oral antibiotics. Immune work-up revealed an IgG of 13mg/dl (normal: 504–1465), IgA of <6 (27–195), IgM of 23 (24–214), and IgE of 10 (0–59). The finding of hypogammaglobulinemia without evidence of secondary causes of immunodeficiency led to the diagnosis of CVID. His recurrent sino-pulmonary infections ceased after initiation of monthly intravenous immunoglobulin therapy. Conclusion Although CVID and sarcoidosis are rare childhood diseases, children with sarcoidosis with recurrent infections should be evaluated for CVID. Conversely, patient with CVID should be monitored for sarcoid activity.