FNIP1, folliculin interacting protein 1, 96459

N. diseases: 24; N. variants: 5
Disease: Humoral immune defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0522274
Disease: Humoral immune defect
Humoral immune defect 		0.010 Biomarker group BEFREE To address this issue, we created a recessive loss-of-function variant of Fnip1 Homozygous FNIP1 deficiency resulted in profound B-cell deficiency, partially restored by overexpression of the antiapoptotic protein BCL2, whereas heterozygous deficiency caused a loss of marginal zone B cells. 27303042 2016