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gptkbp:instanceOf
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gptkb:genetic_disorder
gptkb:immunodeficiency
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gptkbp:affects
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immune system
mostly males
|
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gptkbp:alsoKnownAs
|
gptkb:X-SCID
gptkb:X-linked_severe_combined_immunodeficiency
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gptkbp:causedBy
|
mutations in the common gamma chain
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gptkbp:characterizedBy
|
absence of NK cells
absence of T cells
non-functional B cells
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gptkbp:detects
|
newborn screening
|
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gptkbp:diagnosedBy
|
genetic testing
lymphocyte subset analysis
|
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gptkbp:firstDescribed
|
1950s
|
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gptkbp:ICD-10_code
|
D81.0
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gptkbp:inheritance
|
X-linked recessive
|
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gptkbp:mutationAssociatedWith
|
gptkb:IL2RG_gene
|
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gptkbp:OMIM
|
300400
|
|
gptkbp:prevalence
|
1 in 50,000 to 100,000 live births
|
|
gptkbp:relatedTo
|
gptkb:ADA-SCID
JAK3 deficiency
|
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gptkbp:riskFactor
|
life-threatening infections
|
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gptkbp:symptom
|
failure to thrive
recurrent infections
chronic diarrhea
|
|
gptkbp:treatment
|
gptkb:gene_therapy
hematopoietic stem cell transplantation
immunoglobulin replacement therapy
|
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gptkbp:bfsParent
|
gptkb:Severe_Combined_Immunodeficiency_(SCID)
|
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gptkbp:bfsLayer
|
7
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|
https://www.w3.org/2000/01/rdf-schema#label
|
X-linked SCID
|