COMMON VARIABLE IMMUNODEFICIENCY (CVI) OF CHILDHOOD WITH AUTOIMMUNE DISEASE

Abstract

CVI in childhood is not a well described entity. We have followed 6 children (2 males and 4 females) with this disease who have also had multiple severe, autoimmune disorders that have overshadowed infections as clinical problems. These children have all had onset of disease before 5 years of age and all have had severe growth failure. The autoimmune disorders have included ITP with autoimmune hemolytic anemia (3/6), diarrhea, malabsorption or gastritis (5/6), JRA (2/6), parotitis (2/6), chronic active hepatitis (2/6) and Guillian Barré Syndrome (2/6). All have had hypogammaglobulinemia. T and B cells have been present in the peripheral circulation, although in some cases in reduced numbers. Delayed hypersensitivity skin tests and proliferative responses to mitogens have been normal. T cell subsets, done in 4 of the patients, demonstrated an increased ratio of T helpers to T suppressors (T4/T8); 3.2 ± 0.6 vs. 1.8 ± 0.4. In vitro assays demonstrated normal or increased T cell help. When patient T cells were added to control B cells in pokeweed mitogen stimulated cultures, the number of plasma cells produced was equal to or greater than that produced when control T cells were added. In contrast, patient B cells did not differentiate into plasma cells even when supplemented with normal T cells. CVI in childhood with autoimmune disease may represent a unique syndrome which may provide new insights into understanding of B cell differentiation.