Statements (37)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
primary immunodeficiency disease |
| gptkbp:affects |
gptkb:B_cells
gptkb:T_cells |
| 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 |
opportunistic infections
recurrent infections elevated IgM levels low or absent IgA low or absent IgG |
| gptkbp:complication |
gptkb:liver_disease
autoimmune disorders neutropenia |
| gptkbp:diagnosedBy |
genetic testing
immunoglobulin quantification |
| gptkbp:firstDescribed |
1961
|
| https://www.w3.org/2000/01/rdf-schema#label |
Hyper IgM syndrome
|
| gptkbp:ICD-10_code |
D80.5
|
| gptkbp:inheritance |
X-linked recessive
autosomal recessive |
| gptkbp:MeSH_ID |
D006943
|
| gptkbp:OMIM |
308230
|
| gptkbp:prevalence |
rare
|
| gptkbp:subspecies |
Autosomal recessive Hyper IgM syndrome
X-linked Hyper IgM syndrome |
| gptkbp:symptom |
failure to thrive
chronic diarrhea lymphoid hyperplasia |
| gptkbp:treatment |
hematopoietic stem cell transplantation
immunoglobulin replacement therapy antibiotic prophylaxis |
| gptkbp:bfsParent |
gptkb:IGHM
|
| gptkbp:bfsLayer |
8
|