Report of 8 Cases and Review of the Literature

Abstract

The true incidence of sarcoidosis in common variable immunodeficiency (CVID) is unknown. We report here 8 cases of sarcoidosis among 80 patients with CVID followed in our clinics, along with 22 well-documented cases reported in the literature. Sarcoidosis, therefore, represents an important entity to consider among patients with CVID who exhibit clinical, radiographic, laboratory, and biopsy findings compatible with sarcoidosis. Conversely, the diagnosis of CVID should be considered in patients with sarcoidosis who do not exhibit the characteristic hypergammaglobulinemia and who have a history of recurrent infections. Although many features of sarcoidosis are similar in patients with CVID to those in patients with sarcoidosis alone, there are many important differences. Patients with CVID in whom sarcoidosis develops present with hypogammaglobulinemia rather than hypergammaglobulinemia and have a higher prevalence of recurrent infections, thrombocytopenia, and splenic involvement. Steroids, in most cases, appeared helpful in reducing adenopathy and splenomegaly, improving uveitis, lowering serum alkaline phosphatase, and reversing hematologic abnormalities. The underlying pathophysiology responsible for the association of these 2 disorders in the same patient remains obscure. However, as more patients are identified, it may be possible to gain a better understanding of the immunologic defect responsible for the dual presentation of these 2 relatively uncommon diseases.

Sarcoidosis and Common Variable Immunodeficiency

“…However, sarcoidosis has only been diagnosed in a minority of these patients. Altogether, 40 cases have been described to date [11, 12, 13]. The patients suffered from lymphadenopathy and a mild to moderate pulmonary involvement in conjunction with hepatomegaly and fibrotic enlargement of the spleen.…”

“…The patients suffered from lymphadenopathy and a mild to moderate pulmonary involvement in conjunction with hepatomegaly and fibrotic enlargement of the spleen. Pulmonary fibrosis did not become severe in any of them before the age of 30 [11, 12, 13]. Only 2 died of restrictive lung disease.…”

“…Late and mostly mild lung involvement might be the reason why the incidence of sarcoidosis in CVID has been underestimated: only recent studies that systematically screened all CVID patients for simultaneous occurrence of sarcoidosis described an incidence of up to 10% [12]. …”

“…The significance of these findings in the pathogenesis of sarcoidosis may be elucidated if they could also be demonstrated in other related or associated kinds of disease. In view of the given prevalence of sarcoidosis of 1–65/10 5 , the incidence of up to 10% in CVID patients suggests a strong association [12]. …”

“…Sarcoidosis was recognized only in a small minority of these patients though. To date, altogether 40 patients have been described who fulfill the diagnostic criteria of both sarcoidosis and CVID [11, 12, 13, 14]. …”