Loss-of-Function Mutations in the IL-21 Receptor Gene Cause a Primary Immunodeficiency Syndrome
نویسندگان
چکیده
STUDY POPULATION. Two sets of kindreds were studied. The first set included a 4-year-old boy and a 10-year-old sister born from consanguineous Lebanese parents with phenotypes characterized by recurrent respiratory infections and chronic cryptosporidial gastrointestinal infection and associated chronic cholangitis, biliary fibrosis, and cirrhosis. A second unrelated set included an 8-yearold boy and a 13-year-old boy from consanguineous Columbian parents who had a phenotype similar to that of the first set, including recurrent respiratory infections, chronic cryptosporidial gastrointestinal infection, and hepatobiliary disease.
منابع مشابه
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome
Primary immunodeficiencies (PIDs) represent exquisite models for studying mechanisms of human host defense. In this study, we report on two unrelated kindreds, with two patients each, who had cryptosporidial infections associated with chronic cholangitis and liver disease. Using exome and candidate gene sequencing, we identified two distinct homozygous loss-of-function mutations in the interleu...
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