Buscar recursos académicos

IntroductionActivated Phosphoinositide 3-Kinase Delta Syndrome (APDS) is a rare disease characterized by early-onset, progressive symptoms. Delayed diagnosis and inadequate treatment in childhood may exacerbate disease m...

Inborn errors of immunity (IEI), once considered rare, are more common than previously thought, affecting up to 1:1000 individuals, with 555 IEI identified involving variants in 546 genes. This expanded genetic and clini...

ObjectiveEarly recognition of inborn errors of immunity (IEI) is critical to avoid morbidity and irreversible organ damage. Jeffrey Modell Foundation (JMF) warning signs have long guided and still guide clinical suspicio...