bare lymphocyte syndrome type I
GPTKB entity
Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
immunodeficiency |
| gptkbp:affects |
immune system
MHC class I expression |
| gptkbp:firstDescribed |
1981
|
| https://www.w3.org/2000/01/rdf-schema#label |
bare lymphocyte syndrome type I
|
| gptkbp:ICD-10_code |
D81.1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:TAP1_gene
gptkb:TAP2_gene |
| gptkbp:OMIM |
604571
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
respiratory tract infections
chronic lung disease recurrent bacterial infections |
| gptkbp:synonym |
BLS type I
MHC class I deficiency |
| gptkbp:treatment |
antibiotics
lung transplantation |
| gptkbp:bfsParent |
gptkb:ATP-binding_cassette_sub-family_B_member_2
gptkb:TAP1 gptkb:TAP2 gptkb:TAP_transporter gptkb:TAP1_gene gptkb:TAP2_gene |
| gptkbp:bfsLayer |
8
|