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gptkbp:instanceOf
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gptkb:disease
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gptkbp:abbreviation
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gptkb:Severe_Combined_Immunodeficiency
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gptkbp:affects
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immune system
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gptkbp:alsoKnownAs
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gptkb:bubble_boy_disease
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gptkbp:causedBy
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gptkb:genetic_disorder
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gptkbp:diagnosedBy
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genetic testing
newborn screening
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gptkbp:firstDescribed
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1950s
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gptkbp:fullName
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gptkb:Severe_Combined_Immunodeficiency
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gptkbp:ICD-10_code
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D81.0
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gptkbp:inheritance
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X-linked recessive
autosomal recessive
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gptkbp:notableGroup
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gptkb:Adenosine_deaminase_deficiency_SCID
gptkb:Jak3_deficiency_SCID
gptkb:X-linked_SCID
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gptkbp:OMIM
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300400
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gptkbp:prevalence
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rare
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gptkbp:prognosis
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fatal if untreated
good with early treatment
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gptkbp:riskFactor
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life-threatening infections
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gptkbp:symptom
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failure to thrive
recurrent infections
chronic diarrhea
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gptkbp:treatment
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gptkb:gene_therapy
gptkb:enzyme_replacement_therapy
bone marrow transplant
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gptkbp:bfsParent
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gptkb:bubble_boy_disease
gptkb:severe_combined_immunodeficiency_(SCID)
gptkb:RAG2_gene
gptkb:Maddy_Whittier
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gptkbp:bfsLayer
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8
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https://www.w3.org/2000/01/rdf-schema#label
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SCID
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