Disease: IRAK4 Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843256
Disease: IRAK4 Deficiency
IRAK4 Deficiency 		0.610 GeneticVariation disease UNIPROT Functional assessment of the mutational effects of human IRAK4 and MyD88 genes. 24316379 2014
CUI: C1843256
Disease: IRAK4 Deficiency
IRAK4 Deficiency 		0.610 Biomarker disease BEFREE To better understand the clinical significance of IRAK4 deficiency we examined the impact of IRAK4 on bacterial recognition in human monocytes. 23519847 2013
CUI: C1843256
Disease: IRAK4 Deficiency
IRAK4 Deficiency 		0.610 GeneticVariation disease UNIPROT We documented the clinical features and outcome of 48 patients with IRAK-4 deficiency and 12 patients with MyD88 deficiency, from 37 kindreds in 15 countries.The clinical features of IRAK-4 and MyD88 deficiency were indistinguishable. 21057262 2010
CUI: C1843256
Disease: IRAK4 Deficiency
IRAK4 Deficiency 		0.610 GeneticVariation disease UNIPROT Impaired neutrophil migration and phagocytosis in IRAK-4 deficiency. 19663824 2009
CUI: C1843256
Disease: IRAK4 Deficiency
IRAK4 Deficiency 		0.610 GeneticVariation disease UNIPROT TLR9 activation induces normal neutrophil responses in a child with IRAK-4 deficiency: involvement of the direct PI3K pathway. 17878374 2007
CUI: C1843256
Disease: IRAK4 Deficiency
IRAK4 Deficiency 		0.610 GeneticVariation disease UNIPROT Pyogenic bacterial infections in humans with IRAK-4 deficiency. 12637671 2003
CUI: C1843256
Disease: IRAK4 Deficiency
IRAK4 Deficiency 		0.610 GeneticVariation disease UNIPROT Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections. 12925671 2003
CUI: C1843256
Disease: IRAK4 Deficiency
IRAK4 Deficiency 		0.610 Biomarker disease CTD_human
CUI: C1843256
Disease: IRAK4 Deficiency
IRAK4 Deficiency 		0.610 GermlineCausalMutation disease ORPHANET