Statements (58)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
|
| gptkbp:affects |
immune system
antibody production cytokine signaling immune reconstitution B-cell function |
| gptkbp:associated_with |
gptkb:immunotherapy
|
| gptkbp:can_cause |
autoimmune disorders
|
| gptkbp:can_detect |
genetic testing
peripheral blood samples |
| gptkbp:can_lead_to |
T-cell development issues
chronic infections abnormal immune cell populations impaired immune responses reduced T-cell counts |
| gptkbp:can_result_in |
lymphopenia
|
| gptkbp:caused_by |
spontaneous mutations
|
| https://www.w3.org/2000/01/rdf-schema#label |
IL-7 receptor mutations
|
| gptkbp:impact |
vaccine responses
|
| gptkbp:inherits_from |
autosomal recessive inheritance
|
| gptkbp:involve_changes_in |
IL7 R gene
|
| gptkbp:is_associated_with |
failure to thrive
increased mortality risk gastrointestinal infections failure to respond to vaccines thymic dysplasia |
| gptkbp:is_characterized_by |
defective lymphocyte development
deficient T-cell activation |
| gptkbp:is_essential_for |
clinical diagnosis
understanding genetic immunodeficiencies understanding immunodeficiencies understanding lymphocyte homeostasis |
| gptkbp:is_found_in |
various populations
|
| gptkbp:is_involved_in |
chronic disease management
immune dysregulation lymphocyte signaling pathways |
| gptkbp:is_linked_to |
increased risk of infections
recurrent respiratory infections chronic inflammatory conditions increased risk of malignancies increased autoimmune activity lymphoid tissue development |
| gptkbp:is_part_of |
genetic counseling
|
| gptkbp:is_recognized_by |
biopsy samples
|
| gptkbp:is_relevant_to |
clinical trials
pediatric immunology transplantation outcomes |
| gptkbp:is_studied_for |
therapeutic interventions
potential therapies |
| gptkbp:is_studied_in |
animal models
clinical research immune system disorders |
| gptkbp:may_require_treatment_with |
gptkb:gene_therapy
|
| gptkbp:resulted_in |
increased susceptibility to infections
|
| gptkbp:scientific_classification |
primary immunodeficiencies
|
| gptkbp:treatment |
immunoglobulin replacement therapy
|
| gptkbp:bfsParent |
gptkb:T-cell_ALL
|
| gptkbp:bfsLayer |
5
|