ACTR2, actin related protein 2, 10097

N. diseases: 45; N. variants: 1
Disease: Combined immunodeficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.010 GeneticVariation disease BEFREE Patients with mutations in the actin-related protein complex 1B (ARPC1B) subunit of Arp2/3 show combined immunodeficiency, with symptoms of immune dysregulation, including recurrent viral infections and reduced CD8+ T cell count. 31710310 2019