The phenotypical implications of immune dysregulation in fragile X syndrome.

Kun-Hsing YuN PalmerK FoxL ProckK D MandlI S KohaneD Prilutsky

Published in: European journal of neurology (2020)

Our systematic comorbidity analyses identified immunologically-based phenotypes associated with FXS. Our findings align with previous observations of compromised immunity and phagocytic defects in animal models of FXS. These results suggest the importance of immune-related pathways in FXS patients and their relevance to the FMR1 gene.

Keyphrases

end stage renal disease
ejection fraction
chronic kidney disease
newly diagnosed
peritoneal dialysis
genome wide
copy number
patient reported outcomes
transcription factor
patient reported