Buscar
Mostrando ítems 1-3 de 3
Artículo
Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations—10 Children and Review of the Literature
(SPRINGER, 2022)
Introduction Since the frst description of gain of function (GOF) mutations in signal transducer and activator of transcrip tion (STAT) 1, more than 300 patients have been described with a broad clinical phenotype including ...
Artículo
Ex vivo efect of JAK inhibition on JAK‑STAT1 pathway hyperactivation in patients with dominant‑negative STAT3 mutations
(SPRINGER, 2022)
Purpose STAT1 gain-of-function (GOF) and dominant-negative (DN) STAT3 syndromes share clinical manifestations includ ing infectious and infammatory manifestations. Targeted treatment with Janus-kinase (JAK) inhibitors shows ...
Artículo
Inborn errors of immunity causing pediatric susceptibility to fungal diseases
(MDPI, 2023-01-22)
Inborn errors of immunity are a heterogeneous group of genetically determined disorders that compromise the immune system, predisposing patients to infections, autoinflammatory/autoimmunity syndromes, atopy/allergies, ...