IL-21 Receptor Mutation in Humans Leads to Disseminated Cryptosporidiosis, Antibody Defects, and Abnormal B and T Cell Function

Abstract

We report two young brothers with consanguineous parents who presented with recurrent bacterial pneumonia, bronchiectasis and chronic disseminated Cryptosporidium and Norovirus infection leading to diarrhea, severe malabsorption, and liver disease.