Nucleoside Deaminases

Un caso di anemia macrocitica non megaloblastica: la sindrome di Blackfan Diamond

Aquisti G, Basso ME, Rabbone I

2024/5 — pag. 92-93 — DOI

The case of a two-year-old child with severe isolated anaemia (6 g%) and marked macrocytosis, ultimately diagnosed as Blackfan Diamond syndrome, is described. The genetic, clinical and prognostic aspects of the disease are briefly discussed....

Il DADA(2) è tratto!

Aldera E, Dufour F, Mercuri C, Rosina S, Volpi S, Gattorno M, Caorsi R

2023/9 — pag. 600 — DOI

A diagnosis of adenosine deaminase 2 deficiency (a rare autoinflammatory, panarteritis-like disease) was eventually made in a 10-year-old girl who had been presenting with nodular skin lesion, unexplained fever and anaemia for three years. ...

Buona crescita, cattiva immunità

Grasso AG

2021/8 — pag. 257-257 — DOI

The author presents a case of common variable immunodeficiency due to adenosine deaminase 1 deficiency diagnosed in a 3-year-old girl with recurrent pneumonia slowly respondent to the antibiotic therapy....

I lividi di ADA(2)

A. Filpo

2020/1 — pag. 14-15

Chirurghi al vaglio delle evidenze.Ma quanto rompe questo VRS!ADA.Quanto è bello donare un rene!Quando finire è più difficile che cominciare.

2009/2 — pag. 79-80