Properties (46)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:advertising |
important for early diagnosis
|
| gptkbp:advocacy |
important for policy changes
important for awareness campaigns important for funding research |
| gptkbp:ageLimit |
infancy
|
| gptkbp:associatedWith |
lymphoma
autoimmune disorders |
| gptkbp:causedBy |
mutation in the WAS gene
|
| gptkbp:clinicalTrials |
ongoing
access to care severe allergic reactions easy bruising recurrent infections availability of specialists cost of therapies |
| gptkbp:demographics |
rare
|
| gptkbp:diseaseResistance |
variable
blood tests depends on severity early treatment improves outcomes |
| gptkbp:educational_programs |
available online
medical literature patient brochures |
| gptkbp:family |
genetic counseling
|
| gptkbp:gender |
male predominance
|
| gptkbp:geneticDiversity |
Xp11.22
|
| https://www.w3.org/2000/01/rdf-schema#label |
Wiskott-Aldrich syndrome
|
| gptkbp:impact |
bone marrow transplant
immunoglobulin therapy |
| gptkbp:introduced |
Wiskott and Aldrich
|
| gptkbp:nobleFamily |
X-linked recessive
|
| gptkbp:publicAccess |
needs improvement
|
| gptkbp:relatedPatent |
gptkb:eczema_herpeticum
IgA deficiency hemophagocytic lymphohistiocytosis |
| gptkbp:research |
available
diagnostic tool |
| gptkbp:researchFocus |
gene therapy
treatment advancements immunological studies |
| gptkbp:researchInterest |
focused on rare diseases
|
| gptkbp:supports |
available for families
|
| gptkbp:symptoms |
eczema
thrombocytopenia immunodeficiency |