Article

Clinical and immunological impact of JAK inhibition in concurrent Down Syndrome and STAT1 gain of function

2025-04-17

Abstract excerpt

<h4>Background: </h4> Down syndrome (DS) and STAT1 gain-of-function (GOF) share clinical and molecular features, including persistent inflammation. We aim to investigate whether the coexistence of DS and a STAT1 GOF mutation in a patient synergistically enhance interferon (IFN) signaling and exacerbate inflammatory responses, posing additional management challenges. <h4>Methods: </h4>: Two patients (P1 and P2) we...

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Literature Corpus work: 5941f39b-7356-5be4-9cb9-dd3118898940
DOI: 10.22541/au.174487772.24218369/v1

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