Celiac disease is a chronic immune-mediated multisystem disorder that may affect several organs. Isolated hypertransaminasemia, with mild or nonspecific histologic changes in the liver biopsy, also known as “celiac hepatitis”, is the most frequent presentation of liver injury in celiac disease. Both, histologic changes and liver enzymes reverse to normal after treatment with a gluten-free diet in most patients. Here we report the case of a young boy presenting with asymptomatic and persistent hypertransaminasemia whose etiologic investigation led to the diagnosis of celiac disease that resolved with dietary treatment alone. This case emphasizes the need to screen Celiac disease in patients with cryptogenic hypertransaminasemia, irrespective of the existence of gastrointestinal symptoms. It also exemplifies a particular situation in which a liver biopsy is useful to establish the diagnosis of celiac hepatitis.

Hyper-IgE syndrome (HIES) is a primary immunodeficiency disorder characterized by eczema, cold abscesses, pneumonia, eosinophilia, and a very high serum IgE concentration. An association with celiac disease is rare. Immunodeficiency and autoimmunity are two manifestations of immune system dysfunction that can be associated with common pathophysiological links. We present the case of a 3-year-old child with psychomotor retardation and a history of recurrent infections who had generalized eczema, failure to thrive, and abdominal distension with hepatosplenomegaly. The patient improved after receiving a monthly intravenous immunoglobulin infusion and a gluten-free diet.