Autoimmune diseases of gastrointestinal tract in children with humoral immunodeficiency – problems of diagnosis

The most common humoral immunodeficiencies in children are selected IgA deficiency (IgAD) and common variable im­munodeficiency (CVID). IgA deficiency is diagnosed based on laboratory tests because the majority of patients demonstrate no clinical symptoms. Standards for CVID diagnosis include clinical symptoms, hypogammaglobulinemia (IgG and often IgA), weak production of specific antibodies in response to vaccination and disorders of cellular immunity. Humoral immunodeficiencies are associated with autoimmunity in about 30% of cases. Autoimmune diseases in children include hematological (e.g. thrombocytopenia) and gastrointestinal (GI) diseases (mainly celiac and Crohn’s disease). There are no standards of diagnostic procedures of GI autoimmunity in immunodeficiency patients. The screening of GI autoimmunity was performed in all children with humoral immunodeficiencies including detection of antibodies for celiac disease (anti-endomysial, tissue transglutaminase and gliadin), Crohn’s disease (anti-Saccharomyces cerevisiae antigens, pancreatic cells) and ulcerative colitis (anti neutrophils cytoplasm, goblet cells). The lowering of the limit for a positive value of antibodies is postulated to adjust these results to weaker production of antibodies due to immunodeficiency. This screening led to determining a group of children with present antibodies independently of clinical symptoms. Careful moni­­toring of antibodies and occurrence of clinical symptoms is suggested to diagnose as early as possible concomitant autoimmune disease in children with immunodeficiency.