X-linked SCID

GPTKB entity

Statements (31)
Predicate Object
gptkbp:instanceOf genetic disorder
immunodeficiency
gptkbp:affects immune system
mostly males
gptkbp:alsoKnownAs gptkb:X-SCID
gptkb:X-linked_severe_combined_immunodeficiency
gptkbp:causedBy mutations in the common gamma chain
gptkbp:characterizedBy absence of NK cells
absence of T cells
non-functional B cells
gptkbp:detects newborn screening
gptkbp:diagnosedBy genetic testing
lymphocyte subset analysis
gptkbp:firstDescribed 1950s
https://www.w3.org/2000/01/rdf-schema#label X-linked SCID
gptkbp:ICD-10_code D81.0
gptkbp:inheritance X-linked recessive
gptkbp:mutationAssociatedWith gptkb:IL2RG_gene
gptkbp:OMIM 300400
gptkbp:prevalence 1 in 50,000 to 100,000 live births
gptkbp:relatedTo gptkb:ADA-SCID
JAK3 deficiency
gptkbp:riskFactor life-threatening infections
gptkbp:symptom failure to thrive
recurrent infections
chronic diarrhea
gptkbp:treatment gene therapy
hematopoietic stem cell transplantation
immunoglobulin replacement therapy
gptkbp:bfsParent gptkb:immunodeficiency
gptkbp:bfsLayer 6