DNA-Binding domain mutations confer severe outcome at an early age among STAT1 gain-of-function patients.
Ori ScottHarjit DadiLinda VongYehonatan PasternakJenny GarkabyJessica Willett PachulAmarilla B MandolaRae BragerRobert HostofferAmit NahumChaim M RoifmanPublished in: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology (2021)
We report that STAT1 GOF patients with DBD mutations may be regarded as a unique subgroup, impacted more by early-onset profound combined immunodeficiency and with earlier mortality. These findings may impact clinical decision making with respect to early intervention, and in particular hematopoietic stem cell transplant considerations, in such patients.
Keyphrases
- early onset
- end stage renal disease
- ejection fraction
- dna binding
- chronic kidney disease
- peritoneal dialysis
- cell proliferation
- late onset
- prognostic factors
- hematopoietic stem cell
- type diabetes
- patient reported outcomes
- clinical trial
- cardiovascular disease
- transcription factor
- coronary artery disease
- patient reported