bare lymphocyte syndrome type II
GPTKB entity
Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
immunodeficiency |
| gptkbp:affects |
immune system
|
| gptkbp:causedBy |
mutations in CIITA gene
mutations in RFX5 gene mutations in RFXANK gene mutations in RFXAP gene |
| gptkbp:characterizedBy |
recurrent infections
severe immunodeficiency absence of MHC class II expression |
| gptkbp:diagnosedBy |
genetic testing
flow cytometry for HLA-DR expression |
| gptkbp:firstDescribed |
1970s
|
| https://www.w3.org/2000/01/rdf-schema#label |
bare lymphocyte syndrome type II
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
209920
|
| gptkbp:otherName |
MHC class II deficiency
|
| gptkbp:symptom |
gptkb:pneumonia
failure to thrive chronic diarrhea |
| gptkbp:treatment |
hematopoietic stem cell transplantation
immunoglobulin replacement therapy antibiotic prophylaxis |
| gptkbp:bfsParent |
gptkb:MHC_class_II_molecules
|
| gptkbp:bfsLayer |
7
|