Disease: IMMUNODEFICIENCY 32B ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
IMMUNODEFICIENCY 32B
CUI: C4016741
Disease: IMMUNODEFICIENCY 32B
0.010 GeneticVariation BEFREE Autosomal recessive IRF8 deficiency is caused by mutation K108E and associated with severe disease with complete depletion of monocytes and dendritic cells. 23468103 2013