Inborn errors of immunity

Considerazioni su “Errori congeniti dell’immunità”

Bonazza P, Moratti M, Valencic I.

2025/6 — pag. 352-353 — DOI

Infezioni herpetiche invasive neonatali

Valencic I, Moratti M, Conti F, Nanni N, Ancora G.

2025/3 — pag. 171-175 — DOI

Herpetic infection is a condition with high rates of neonatal morbidity and mortality; to date, there is no universally recognized strategy for the perinatal management of the risk of Herpes Simplex Virus (HSV) transmission based on the prognostic va...

Il bambino che ritorna perché ha sempre la febbre: capire, sapere e saper fare

De Nardi L, Insalaco A, De Benedetti F.

2024/6 — pag. 355-363 — DOI

Fever is a very common symptom in children, mostly due to infections. It is a physiological body defence mechanism against damage. However, when it is recurring, it is difficult to understand which are the underlying causes. Recurrent fever is most c...

Difetti congeniti dell’immunità: non solo le vecchie immunodeficienze

Tommasini A, Valencic E, Naviglio S.

2024/4 — pag. 219-226 — DOI

Inborn errors of immunity are a rapidly-developing area of clinical study. Based on the description of a small set of disorders with a significant risk of infection that may be identified with a small number of lab tests, the definition has been expa...

Sindromi, genetica e immunologia: dall’inizio della fine alla fine dell’inizio

Guerra F, Saettini F, Biondi A.

2023/9 — pag. 569-574 — DOI

Syndromic immunodeficiencies are defined as a group of immunodeficiencies in which the immunological defect may be found only in a subgroup of patients. They fall within a more complex clinical picture and may not represent the primary clinical probl...

Una MIS-C come possibile spia di errori congeniti dell’immunità

Drago E, Massaccesi E, Ridella F, Scalas M, Caorsi R, Fioredda F

2023/3 — pag. 52-52 — DOI

The Authors described the case of a 2-year-old child presenting with the typical clinical features of MIS-C finally diagnosed as Wiskott-Aldrich immunodeficiency....

Difetti immunitari non convenzionali in pazienti con infezione grave

A. Marzollo, J. Bustamante, M.C. Putti, M. Stronati, M. Bendavid, J-L. Casanova, G. Basso, A. Borghesi

2017/8 — pag. 503-510

Severe infectious disease in an otherwise healthy child is often perceived as a sporadic event with no genetic cause. Recent data challenge this assumption showing that a mutation in genes involved in host defence can be found in a significant prop...