Accès ouvert
2026
article
OpenAlex
Antonios Gkantaras, ESID Registry Working Party, Dalia Abd Elaziz, Sohilla Lofty M. Abdelkader et autres
Diagnosing common variable immunodeficiency (CVID) in childhood remains contentious, as monogenic inborn errors of immunity (IEIs) are increasingly recognized in CVID-like phenotypes. We analyzed 7,525 ESID Registry patients with a clinical diagnosis of CVID to investigate age-dependent genetic architecture and associated phenotypes. …
gr
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Accès ouvert
2026
article
OpenAlex
Roberto Pereira da Costa, Mariana Lima, Sofia Guedes, Marisa Vieira et autres
Introduction Macrophage activation syndrome (MAS) is a life-threatening hyperinflammatory condition. Emapalumab, an IFNγ-directed antibody, is approved for use in the USA but not in Europe. Case A 15-year-old girl presented with fever, odynophagia and a transient rash. After 9 days of hospitalization …
pt
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Accès ouvert
2026
article
OpenAlex
Joana Costa Branco, Margarida Cunha, Ana Dias Curado, Inês Girbal et autres
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare monogenic autoimmune disorder caused by mutations in the FOXP3 gene. It typically presents in early infancy with severe multisystem autoimmunity. We report the case of a male preterm infant, born at 30 …
pt
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