Statements (77)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
|
| gptkbp:affects |
cytokine production
immune cell signaling lymphocyte differentiation immune system homeostasis cytokine receptor signaling JAK3 protein function |
| gptkbp:are_part_of |
JAK-STAT signaling pathway
|
| gptkbp:associated_with |
gptkb:immunotherapy
|
| gptkbp:can_be_screened_in |
clinical settings
|
| gptkbp:can_cause |
lymphoproliferative disorders
failure of hematopoiesis |
| gptkbp:can_detect |
genetic testing
|
| gptkbp:can_involve |
nucleotide substitutions
|
| gptkbp:can_lead_to |
increased healthcare costs
recurrent infections chronic infections increased susceptibility to infections abnormal immune responses failure to thrive in infants immunodeficiency syndromes |
| gptkbp:can_result_in |
abnormal lymphocyte counts
impaired antibody production |
| gptkbp:disrupt |
cytokine signaling pathways
|
| https://www.w3.org/2000/01/rdf-schema#label |
JAK3 gene mutations
|
| gptkbp:impact |
T-cell development
|
| gptkbp:inherits_from |
autosomal recessive trait
|
| gptkbp:investigates |
clinical trials
therapeutic interventions therapeutic targets gene editing approaches patient cohorts |
| gptkbp:is_analyzed_in |
next-generation sequencing
|
| gptkbp:is_associated_with |
gptkb:disease
increased risk of infections chronic inflammatory conditions reduced survival rates defective T-cell activation reduced B-cell function |
| gptkbp:is_characterized_by |
specific genetic variants
specific phenotypic features |
| gptkbp:is_common_in |
certain populations
|
| gptkbp:is_documented_in |
gptkb:literature
genetic databases |
| gptkbp:is_examined_in |
diagnostic purposes
genetic counseling genetic epidemiology studies immunological studies prognostic implications |
| gptkbp:is_linked_to |
autoimmune diseases
chronic lung disease increased risk of malignancies increased autoimmunity risk increased morbidity rates inflammatory disorders |
| gptkbp:is_noted_for |
variable expressivity
high mutation rates high clinical variability |
| gptkbp:is_recognized_by |
whole exome sequencing
familial cases PCR analysis patients with SCID |
| gptkbp:is_studied_for |
biomarker development
clinical management strategies potential therapies |
| gptkbp:is_studied_in |
animal models
clinical research biomedical research. |
| gptkbp:may_be_screened_in |
newborn screening programs
|
| gptkbp:result |
deletions in the JAK3 gene
|
| gptkbp:resulted_in |
impaired immune response
|
| gptkbp:scientific_classification |
pathogenic variants
|
| gptkbp:treatment |
gptkb:gene_therapy
targeted therapies immunoglobulin replacement therapy |
| gptkbp:bfsParent |
gptkb:immunotherapy
|
| gptkbp:bfsLayer |
4
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