X-linked severe combined immunodeficiency
GPTKB entity
Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:immunotherapy
|
| gptkbp:affects |
immune system
|
| gptkbp:associated_with |
increased susceptibility to infections
|
| gptkbp:caused_by |
mutation in the IL2 RG gene
|
| gptkbp:clinical_trial |
lymphopenia
ongoing for new therapies absence of T and NK cells focused on gene editing techniques investigating alternative therapies normal or elevated B cells |
| gptkbp:diagnosis |
newborn screening
|
| gptkbp:diseases |
other forms of SCID
|
| gptkbp:emergency_services |
IVIG therapy
immediate antibiotic therapy |
| gptkbp:financial_support |
resources for families
available through organizations |
| gptkbp:first_described_by |
in the 1960s
|
| gptkbp:future_plans |
enhancing patient education
expanding access to treatments improving gene therapy efficacy |
| gptkbp:gender_predominance |
male
|
| gptkbp:genetic_studies |
recommended for families
available for IL2 RG gene |
| gptkbp:historical_context |
identified as a genetic disorder
part of the SCID spectrum |
| https://www.w3.org/2000/01/rdf-schema#label |
X-linked severe combined immunodeficiency
|
| gptkbp:immunization_guidelines |
live vaccines contraindicated
inactivated vaccines recommended |
| gptkbp:inherits_from |
X-linked recessive
|
| gptkbp:long_term_outcomes |
potential for normal life expectancy with treatment
improved with early treatment risk of autoimmune diseases |
| gptkbp:prevalence |
1 in 200,000 to 1 in 1,000,000 live births
|
| gptkbp:public_awareness |
increased due to advocacy groups
|
| gptkbp:research_focus |
gene therapy advancements
immunological studies |
| gptkbp:risk_factor |
maternal age
family history of SCID |
| gptkbp:screening_methods |
flow cytometry
PCR testing |
| gptkbp:symptoms |
failure to thrive
recurrent infections |
| gptkbp:transmission |
X-linked inheritance
|
| gptkbp:treatment |
gptkb:gene_therapy
bone marrow transplant access to specialized care availability of donor matches high cost of therapies |
| gptkbp:bfsParent |
gptkb:David_Vetter
|
| gptkbp:bfsLayer |
5
|