Severe Combined Immunodeficiency

URI: https://gptkb.org/entity/Severe_Combined_Immunodeficiency
GPTKB entity
Statements (49)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:abbreviation gptkb:SCID
gptkbp:affectedPopulation infants
gptkbp:affects immune system
gptkbp:alsoKnownAs gptkb:bubble_boy_disease
gptkbp:causedBy genetic mutations
X-linked mutation
autosomal recessive mutation
gptkbp:characterizedBy defective B cells
defective NK cells
defective T cells
gptkbp:complication autoimmunity
failure to thrive
opportunistic infections
malignancy
gptkbp:diagnosedBy genetic testing
lymphocyte count
gptkbp:firstDescribed 1950s
gptkbp:hasGeneTherapyApproved gptkb:Strimvelis
gptkbp:hasOrphanetID ORPHA:183660
https://www.w3.org/2000/01/rdf-schema#label Severe Combined Immunodeficiency
gptkbp:ICD-10_code D81.0
gptkbp:inheritance X-linked recessive
autosomal recessive
gptkbp:MeSH_ID D012583
gptkbp:mutationAssociatedWith gptkb:IL2RG_gene
gptkb:JAK3_gene
gptkb:RAG1_gene
gptkb:RAG2_gene
ADA gene
gptkbp:notableCase gptkb:David_Vetter
gptkbp:OMIM 300400
gptkbp:prevalence rare
gptkbp:prognosis fatal if untreated
gptkbp:relatedTo immunodeficiency
gptkbp:riskFactor life-threatening infections
gptkbp:screenedBy newborn screening
gptkbp:subspecies gptkb:ADA-SCID
gptkb:X-linked_SCID
JAK3 deficiency
RAG1/2 deficiency
gptkbp:symptom failure to thrive
recurrent infections
chronic diarrhea
gptkbp:treatment gene therapy
bone marrow transplant
immunoglobulin replacement therapy
gptkbp:bfsParent gptkb:SCID
gptkbp:bfsLayer 7