X-linked severe combined immunodeficiency (SCID)

URI: https://gptkb.org/entity/X-linked_severe_combined_immunodeficiency_(SCID)
GPTKB entity
Statements (32)
Predicate Object
gptkbp:instanceOf gptkb:genetic_disorder
gptkb:immunodeficiency
gptkbp:affects immune system
gptkbp:affectsGender males predominantly
gptkbp:alsoKnownAs gptkb:X-SCID
gptkb:X-linked_SCID
gptkbp:category gptkb:rare_disease
gptkbp:cause severe susceptibility to infections
gptkbp:characterizedBy absence of NK cells
absence of T cells
non-functional B cells
gptkbp:deficiencyCauses gptkb:common_gamma_chain_(γc)
gptkbp:diagnosedBy genetic testing
immunophenotyping
gptkbp:firstDescribed 1950s
gptkbp:ICD-10_code D81.0
gptkbp:inheritance X-linked recessive
gptkbp:mutationAssociatedWith gptkb:IL2RG_gene
gptkbp:newbornScreening gptkb:TREC_assay
gptkbp:OMIM 300400
gptkbp:prevalence 1 in 50,000 to 100,000 live births
gptkbp:prognosis fatal if untreated
gptkbp:riskFactor family history of SCID
gptkbp:symptom failure to thrive
recurrent infections
chronic diarrhea
gptkbp:treatment gptkb:gene_therapy
gptkb:enzyme_replacement_therapy
hematopoietic stem cell transplantation
gptkbp:bfsParent gptkb:IL2RG
gptkbp:bfsLayer 8
https://www.w3.org/2000/01/rdf-schema#label X-linked severe combined immunodeficiency (SCID)