Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
immunodeficiency disorder |
| gptkbp:affects |
immune system
|
| gptkbp:cause |
failure to thrive
recurrent infections genetic mutations chronic diarrhea IL2RG gene mutation adenosine deaminase deficiency |
| gptkbp:characterizedBy |
defective B cell function
defective T cell function |
| gptkbp:diagnosedBy |
immunological testing
|
| gptkbp:hasOrphanetID |
ORPHA:183660
|
| https://www.w3.org/2000/01/rdf-schema#label |
combined immunodeficiency
|
| gptkbp:includes |
immunodeficiency
|
| gptkbp:inheritance |
X-linked recessive
autosomal recessive |
| gptkbp:MeSH_ID |
D007153
|
| gptkbp:subspecies |
gptkb:Omenn_syndrome
bare lymphocyte syndrome |
| gptkbp:symptom |
fungal infections
opportunistic infections persistent viral infections |
| gptkbp:treatment |
hematopoietic stem cell transplantation
immunoglobulin replacement therapy |
| gptkbp:bfsParent |
gptkb:CD27
|
| gptkbp:bfsLayer |
8
|