Properties (55)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:physicist
|
| gptkbp:associatedWith |
increased susceptibility to infections
|
| gptkbp:canLeadTo |
opportunistic infections
chronic lung disease autoimmune disorders gastrointestinal infections lymphoproliferative disorders |
| gptkbp:causedBy |
mutation in the CD40 ligand gene
|
| gptkbp:characterizedBy |
high levels of immunoglobulin M (IgM)
low levels of immunoglobulin A (IgA) low_levels_of_immunoglobulin_G_(IgG) |
| gptkbp:diseaseResistance |
serum immunoglobulin levels
|
| gptkbp:firstDescribedBy |
1993
|
| https://www.w3.org/2000/01/rdf-schema#label |
Hyper-IgM syndrome
|
| gptkbp:impact |
antibiotic prophylaxis
immunoglobulin replacement therapy |
| gptkbp:inheritsFrom |
X-linked recessive pattern
|
| gptkbp:isAssociatedWith |
failure to thrive
recurrent infections increased mortality risk increased risk of lymphoma |
| gptkbp:isConsidered |
a rare disease
|
| gptkbp:isCounteredBy |
both males and females
|
| gptkbp:isFoundIn |
males
|
| gptkbp:isLinkedTo |
B cell dysfunction
CD40 gene mutations CD40L gene mutations T cell abnormalities impaired class switching |
| gptkbp:isPartOf |
genetic immunodeficiencies
primary immunodeficiency diseases |
| gptkbp:isStudiedIn |
clinical research
genetic research immunology research |
| gptkbp:isUsedFor |
gene therapy
genetic testing hepatitis sinusitis clinical evaluation pneumonia sepsis flow cytometry antiviral medications otitis media stem cell transplantation |
| gptkbp:mayHave |
lymphadenopathy
splenomegaly chronic diarrhea dermatological manifestations oral thrush |
| gptkbp:relatedTo |
CD40 signaling pathway
|
| gptkbp:requires |
infection prevention
lymphoproliferative disorders autoimmune complications immunoglobulin levels |