[We describe a child with interleukin-12 receptor beta1 (IL-12Rbeta1) deficiency caused by a homozygous IL12RB1 large deletion who presented at the age of 1 year with recurrent, often asymptomatic episodes of bacteremia caused by group D Salmonella species.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE