Omenn syndrome

GPTKB entity

Statements (29)
Predicate Object
gptkbp:instanceOf gptkb:disease
immunodeficiency
gptkbp:affects immune system
gptkbp:category genetic disorder
immunodeficiency
gptkbp:firstDescribed gptkb:G._S._Omenn
1965
gptkbp:hasOrphanetID ORPHA:2827
https://www.w3.org/2000/01/rdf-schema#label Omenn syndrome
gptkbp:ICD-10_code D81.0
gptkbp:inheritance autosomal recessive
gptkbp:MeSH_ID D020164
gptkbp:mutationAssociatedWith gptkb:IL7R_gene
gptkb:RAG1_gene
gptkb:RAG2_gene
gptkbp:OMIM 603554
gptkbp:symptom alopecia
failure to thrive
hepatosplenomegaly
lymphadenopathy
recurrent infections
eosinophilia
chronic diarrhea
elevated IgE
erythroderma
gptkbp:treatment immunosuppressive therapy
hematopoietic stem cell transplantation
gptkbp:bfsParent gptkb:Gilbert_S._Omenn
gptkbp:bfsLayer 6