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gptkbp:instanceOf
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genetic disorder
immunodeficiency
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gptkbp:abbreviation
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gptkb:SCID
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gptkbp:affects
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infants
immune system
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gptkbp:alternativeName
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primary_immunodeficiency
severe_combined_immunodeficiency
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gptkbp:category
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inborn errors of immunity
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gptkbp:causedBy
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genetic mutations
X-linked recessive inheritance
autosomal recessive inheritance
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gptkbp:characterizedBy
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defective B cells
defective NK cells
defective T cells
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gptkbp:contraindication
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live vaccines
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gptkbp:diagnosedBy
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gptkb:TREC_assay
genetic testing
newborn screening
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gptkbp:firstDescribed
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1950s
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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:MeSH_ID
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D004678
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gptkbp:mostCommonForm
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gptkb:X-linked_SCID
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gptkbp:mostCommonGene
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gptkb:IL2RG
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gptkbp:notableCase
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gptkb:David_Vetter
the boy in the bubble
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gptkbp:OMIM
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300400
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gptkbp:otherGenesInvolved
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gptkb:ADA
gptkb:CD3D
gptkb:CD3E
gptkb:CD3Z
gptkb:DCLRE1C
gptkb:JAK3
gptkb:RAG1
gptkb:RAG2
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gptkbp:prevalence
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rare
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gptkbp:prevention
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genetic counseling
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gptkbp:prognosis
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fatal if untreated
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gptkbp:riskFactor
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consanguinity
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gptkbp:symptom
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gptkb:pneumonia
failure to thrive
oral thrush
recurrent infections
chronic diarrhea
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gptkbp:treatment
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gene therapy
enzyme replacement therapy
hematopoietic stem cell transplantation
immunoglobulin replacement therapy
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gptkbp:bfsParent
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gptkb:gene_therapy
gptkb:Bloom_syndrome
gptkb:Human_Immunodeficiency_Virus/Acquired_Immunodeficiency_Syndrome
gptkb:Tufts_Medical_Center
gptkb:Class_I_PI3K
gptkb:HIV
gptkb:PIK3CD
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gptkbp:bfsLayer
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5
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