IL1A, interleukin 1 alpha, 3552

N. diseases: 1002; N. variants: 19
Disease: INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2748507
Disease: INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY 		0.020 Biomarker disease BEFREE IL-1 pathway dysregulation is present in several of these disorders and blocking IL-1 therapeutically has resulted in control of disease in DIRA, Majeed syndrome and in some cases of SAPHO and CRMO. 23917160 2013
CUI: C2748507
Disease: INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY 		0.020 Biomarker disease BEFREE Skin and bone inflammation in the newborn period have been described in 3 of these autoinflammatory disorders: neonatal-onset multisystem inflammatory disease, Majeed syndrome, and deficiency of interleukin-1 (IL-1) receptor antagonist (DIRA) syndrome. 22127713 2011