Severe Combined Immunodeficiency (SCID)

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:genetic_disorder gptkb:immunodeficiency
gptkbp:affects	immune system
gptkbp:alsoKnownAs	gptkb:bubble_boy_disease
gptkbp:cannotReceive	live vaccines
gptkbp:causedBy	genetic mutations X-linked recessive inheritance autosomal recessive inheritance
gptkbp:characterizedBy	defective B cells defective NK cells defective T cells
gptkbp:complication	failure to thrive opportunistic infections life-threatening infections
gptkbp:diagnosedBy	genetic testing newborn screening lymphocyte subset analysis
gptkbp:firstDescribed	1950s
gptkbp:ICD-10_code	D81.0
gptkbp:inheritance	X-linked recessive autosomal recessive
gptkbp:MeSH_ID	D012583
gptkbp:mostCommonGeneInvolved	gptkb:IL2RG
gptkbp:mostCommonType	gptkb:X-linked_SCID
gptkbp:notableCase	gptkb:David_Vetter
gptkbp:OMIM	300400
gptkbp:otherGenesInvolved	gptkb:ADA gptkb:DCLRE1C gptkb:JAK3 gptkb:RAG1 gptkb:RAG2
gptkbp:prevalence	1 in 50,000 to 100,000 births
gptkbp:prognosis	fatal if untreated good with early treatment
gptkbp:riskFactor	family history
gptkbp:subspecies	gptkb:Reticular_dysgenesis gptkb:ADA-SCID gptkb:Omenn_syndrome gptkb:X-linked_SCID
gptkbp:symptom	gptkb:pneumonia failure to thrive oral thrush chronic diarrhea severe recurrent infections
gptkbp:treatment	gptkb:gene_therapy gptkb:enzyme_replacement_therapy hematopoietic stem cell transplantation immunoglobulin replacement therapy
gptkbp:bfsParent	gptkb:Arabian gptkb:Everything,_Everything
gptkbp:bfsLayer	6
https://www.w3.org/2000/01/rdf-schema#label	Severe Combined Immunodeficiency (SCID)