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Inborn errors of immunity (IEI) can manifest with neurological disorders, indicating genetic overlap between immune and nervous system diseases. However, neurological disorder genes are rarely screened systematically for...

IntroductionCGD is an inborn error of immunity that results in severe, recurrent bacterial and fungal infections, immune dysregulation, and chronic inflammation. Profiling the cytokine signature in CGD patients may infor...

While studying familial celiac disease, we identified four individuals with a rare heterozygous loss-of-function variant in the highly conserved, early-evolved ABCF1 gene. In addition, the 246 individuals heterozygous fo...