Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
immunodeficiency disorder
|
| gptkbp:affects |
immune system
|
| gptkbp:alsoKnownAs |
HIGM syndrome
|
| gptkbp:causedBy |
defects in class switch recombination
mutations in AID gene mutations in CD40 gene mutations in CD40 ligand gene mutations in UNG gene |
| gptkbp:characterizedBy |
elevated IgM antibodies
low or absent IgG, IgA, and IgE antibodies |
| gptkbp:complication |
gptkb:liver_disease
autoimmune disorders malignancy |
| gptkbp:diagnosedBy |
genetic testing
immunoglobulin level testing |
| gptkbp:firstDescribed |
1961
|
| https://www.w3.org/2000/01/rdf-schema#label |
hyper-IgM syndrome
|
| gptkbp:inheritance |
X-linked recessive
autosomal recessive |
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
hepatosplenomegaly
neutropenia opportunistic infections recurrent infections |
| gptkbp:treatment |
hematopoietic stem cell transplantation
immunoglobulin replacement therapy antibiotic prophylaxis |
| gptkbp:bfsParent |
gptkb:CD40
|
| gptkbp:bfsLayer |
8
|