adenosine deaminase deficiency
GPTKB entity
Statements (60)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:physicist
|
| gptkbp:affects |
quality of life
immune system |
| gptkbp:associated_with |
lymphopenia
elevated adenosine levels |
| gptkbp:can_be |
metabolic disturbances
|
| gptkbp:can_lead_to |
chronic lung disease
gastrointestinal issues death in infancy |
| gptkbp:caused_by |
gptkb:healthcare_organization
autoimmune disorders mutations in the ADA gene |
| gptkbp:current_use |
requires lifelong management
|
| gptkbp:descendant |
autosomal recessive
|
| gptkbp:first_described_by |
1970s
|
| gptkbp:focuses_on |
public health initiatives
clinical research |
| https://www.w3.org/2000/01/rdf-schema#label |
adenosine deaminase deficiency
|
| gptkbp:includes |
genetic screening panels
|
| gptkbp:is_affected_by |
viral infections
|
| gptkbp:is_associated_with |
increased risk of malignancies
failure of T-cell development lymphoid tissue abnormalities |
| gptkbp:is_characterized_by |
deficiency of adenosine deaminase enzyme
increased levels of toxic metabolites severe immune dysfunction |
| gptkbp:is_linked_to |
genetic counseling
increased risk of infections increased adenosine toxicity |
| gptkbp:is_monitored_by |
regular health check-ups
|
| gptkbp:is_often_used_in |
certain populations
|
| gptkbp:is_part_of |
immunodeficiency disorders
SCID spectrum disorders |
| gptkbp:is_popular_in |
rare
|
| gptkbp:is_recognized_by |
gptkb:hospital
family history patients with SCID |
| gptkbp:is_studied_in |
potential gene therapies
|
| gptkbp:location |
chromosome 20
|
| gptkbp:managed_by |
supportive care
|
| gptkbp:recognizes |
enzyme activity assay
|
| gptkbp:reproduction |
gptkb:ADA_gene
|
| gptkbp:research |
gptkb:physicist
|
| gptkbp:resulted_in |
defective purine metabolism
|
| gptkbp:screenings |
newborns
|
| gptkbp:social_responsibility |
blood tests
clinical evaluation early childhood |
| gptkbp:subject |
clinical trials.
|
| gptkbp:symptoms |
failure to thrive
recurrent infections |
| gptkbp:treatment |
gptkb:physicist
stem cell therapy bone marrow transplant specialized medical centers immunoglobulin therapy antibiotic prophylaxis |
| gptkbp:type_of |
primary immunodeficiency
|
| gptkbp:bfsParent |
gptkb:healthcare_organization
|
| gptkbp:bfsLayer |
3
|